High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

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class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors" data-existing-collections-url="/list-existing-collections/" data-add-to-existing-collection-url="/add-to-existing-collection/" data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/" data-get-article-ids-by-search-url="/get-article-ids-by-search/" data-myncbi-max-collection-name-length="100" data-add-to-collection-max-amount="1000" data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"> <input type="hidden" name="csrfmiddlewaretoken" value="fF4FCqj7wCp5zijNlsfmKE49RvPiwptO7mZTaXleTCdmItUh53DeJNn2kpcHjZjp"> <div class="choice-group" role="radiogroup"> <ul class="radio-group-items"> <li> <input type="radio" id="collections-action-panel-new" class="collections-new" name="collections" value="new" data-ga-category="save_share" data-ga-action="collections" data-ga-label="collections_radio_new"> <label for="collections-action-panel-new">Create a new collection</label> </li> <li> <input type="radio" id="collections-action-panel-existing" class="collections-existing" name="collections" value="existing" checked="true" data-ga-category="save_share" data-ga-action="collections" data-ga-label="collections_radio_existing"> <label for="collections-action-panel-existing">Add to an existing collection</label> </li> </ul> </div> <div class="controls-wrapper"> <div class="action-panel-control-wrap new-collections-controls"> <label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk"> Name your collection: </label> <input type="text" name="add-to-new-collection" id="collections-action-panel-add-to-new" class="collections-action-add-to-new" pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/" maxlength="100" data-ga-category="save_share" data-ga-action="create_collection" data-ga-label="non_favorties_collection"> <div class="collections-new-name-too-long usa-input-error-message selection-validation-message"> Name must be less than 100 characters </div> </div> <div class="action-panel-control-wrap existing-collections-controls"> <label for="collections-action-panel-add-to-existing" class="action-panel-label"> Choose a collection: </label> <select id="collections-action-panel-add-to-existing" class="action-panel-selector collections-action-add-to-existing" data-ga-category="save_share" data-ga-action="select_collection" data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"> </select> <div class="collections-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your collection due to an error<br> <a href="#">Please try again</a> </div> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore data-ga-category="save_share" data-ga-action="collections" data-ga-label="add"> Add </button> <button class="action-panel-cancel" aria-label="Close 'Add to Collections' panel" ref="linksrc=close_collections_panel" aria-controls="collections-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="collections" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="bibliography-action-panel" class="bibliography-action-panel action-panel in-progress-dots-panel" aria-hidden="true" data-bibliography-open-panel-enabled="false" data-bibliography-open-panel-url-hash="#open-bibliography-panel"> <div class="inner-wrap"> <h3 class="action-panel-heading"> Add to My Bibliography </h3> <form id="bibliography-action-panel-form" class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors" data-add-to-bibliography-max-amount="100" data-add-to-bibliography-batch-size="10" data-bibliography-delegates-url="/list-bibliography-delegates/" data-add-to-bibliography-url="/add-to-bibliography/" data-get-article-ids-by-search-url="/get-article-ids-by-search/" data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/"> <input type="hidden" name="csrfmiddlewaretoken" value="fF4FCqj7wCp5zijNlsfmKE49RvPiwptO7mZTaXleTCdmItUh53DeJNn2kpcHjZjp"> <div class="action-panel-control-wrap bibliographies-controls"> <div class="choice-group"> <ul class="bibliographies-action-add radio-group-items"> <li> <input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/> <label for="my-bibliography">My Bibliography</label> </li> </ul> </div> </div> <div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your delegates due to an error<br> <a href="#">Please try again</a> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore> Add </button> <button class="action-panel-cancel" aria-label="Close 'Add to bibliography' panel" ref="linksrc=close_bibliography_panel" aria-controls="bibliography-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="mybib" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true" data-saved-search-open-panel-enabled="false" data-saved-search-open-panel-url-hash="#open-saved-search-panel"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Your saved search </h2> <form id="saved-search-action-panel-form" class="saved-search-action-panel-form action-panel-content action-form" data-create-saved-search-url="/create-saved-search/" data-try-search-terms-url="/try-search-term/" data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/"> <input type="hidden" name="csrfmiddlewaretoken" value="fF4FCqj7wCp5zijNlsfmKE49RvPiwptO7mZTaXleTCdmItUh53DeJNn2kpcHjZjp"> <div class="action-panel-control-wrap"> <label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk"> Name of saved search: </label> <input maxlength="200" type="text" name="saved-search-name" id="saved-search-name" class="saved-search-name" value="" required pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"> </div> <div class="action-panel-control-wrap"> <label for="saved-search-term" class="action-panel-label required-field-asterisk"> Search terms: </label> <textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea> </div> <div class="test-search-term-wrap"> <a href="#" class="try-search-term">Test search terms</a> </div> <div class="choice-group action-panel-extra-margin-top"> <span class="action-panel-label" id="fieldset-label"> Would you like email updates of new search results? </span> <fieldset id="saved-search-alert" aria-describedby="fieldset-label"> <legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend> <ul class="radio-group-items"> <li> <input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked> <label for="saved-search-alert-yes" class="action-panel-label">Yes</label> </li> <li> <input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no"> <label for="saved-search-alert-no" class="action-panel-label">No</label> </li> </ul> </fieldset> </div> <div class="alert-schedule-wrap"> <div class="action-panel-control-wrap"> <label class="action-panel-label"> Email: </label> <span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span> </div> <div class="action-panel-control-wrap action-panel-extra-margin-top"> <label for="saved-search-frequency" class="action-panel-label"> Frequency: </label> <select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency"> <option value="monthly">Monthly</option> <option value="weekly">Weekly</option> <option value="daily">Daily</option> </select> </div> <div class="action-panel-control-wrap saved-search-monthly-additional"> <label for="saved-search-monthly-on-day" class="action-panel-label"> Which day? </label> <select id="saved-search-monthly-on-day" class="no-border-panel-selector"> <option value="Sunday">The first Sunday</option> <option value="Monday">The first Monday</option> <option value="Tuesday">The first Tuesday</option> <option value="Wednesday">The first Wednesday</option> <option value="Thursday">The first Thursday</option> <option value="Friday">The first Friday</option> <option value="Saturday">The first Saturday</option> <option value="day">The first day</option> <option value="weekday">The first weekday</option> </select> </div> <div class="action-panel-control-wrap saved-search-weekly-additional"> <label for="saved-search-weekly-on-day" class="action-panel-label"> Which day? </label> <select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day"> <option value="Sunday">Sunday</option> <option value="Monday">Monday</option> <option value="Tuesday">Tuesday</option> <option value="Wednesday">Wednesday</option> <option value="Thursday">Thursday</option> <option value="Friday">Friday</option> <option value="Saturday">Saturday</option> </select> </div> <div class="action-panel-control-wrap"> <label for="saved-search-report" class="action-panel-label"> Report format: </label> <select id="saved-search-report" class="no-border-panel-selector saved-search-report"> <option value="DocSum">Summary</option> <option value="DocSumText">Summary (text)</option> <option value="Abstract">Abstract</option> <option value="AbstractText">Abstract (text)</option> <option value="MEDLINE">PubMed</option> </select> </div> <div class="action-panel-control-wrap"> <label for="saved-search-amount" class="action-panel-label"> Send at most: </label> <select id="saved-search-amount" class="no-border-panel-selector saved-search-amount"> <option value="1">1 item</option> <option value="5" selected>5 items</option> <option value="10">10 items</option> <option value="20">20 items</option> <option value="50">50 items</option> <option value="100">100 items</option> <option value="200">200 items</option> </select> </div> <div> <input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result"> <label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox"> Send even when there aren't any new results </label> </div> <div class="action-panel-control-wrap option-text-in-email-wrap"> <label for="saved-search-email-text" class="action-panel-label"> Optional text in email: </label> <textarea name="saved-search-email-text" id="saved-search-email-text" class="saved-search-email-text"></textarea> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Saving..." data-ga-category="save_share" data-ga-action="alert" data-ga-label="save"> Save </button> <button class="action-panel-cancel" aria-label="Close 'Your saved search' panel" ref="linksrc=close_saved_search_panel" aria-controls="saved-search-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="alert" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Create a file for external citation management software </h2> <form id="citation-manager-action-panel-form" class="action-panel-content action-form" action="/results-export-ids/" data-by-search-action="/results-export-search-data/" data-by-ids-action="/results-export-ids/" method="post" data-by-search-method="post" data-by-ids-method="post"> <input type="hidden" name="csrfmiddlewaretoken" value="fF4FCqj7wCp5zijNlsfmKE49RvPiwptO7mZTaXleTCdmItUh53DeJNn2kpcHjZjp"> <input name="results-format" type="hidden" value="pubmed"/> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Sending..." data-ga-category="save_share" data-ga-action="citation_manager" data-ga-label="save"> Create file </button> <button class="action-panel-cancel" aria-label="Close 'Send citations to citation manager' panel" ref="linksrc=close_citation_manager_panel" aria-controls="citation-manager-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="citation_manager" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Your RSS Feed </h2> <form id="rss-action-panel-form" class="rss-action-panel-form action-panel-content action-form" data-create-rss-feed-url="/create-rss-feed-url/" data-search-form-term-value=""> <input type="hidden" name="csrfmiddlewaretoken" value="fF4FCqj7wCp5zijNlsfmKE49RvPiwptO7mZTaXleTCdmItUh53DeJNn2kpcHjZjp"> <div class="action-panel-control-wrap"> <label for="rss-name" class="action-panel-label required-field-asterisk"> Name of RSS Feed: </label> <input maxlength="200" placeholder="Name" type="text" name="rss-name" id="rss-name" class="rss-name" value='' required pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"> </div> <div class="rss-limit-wrap"> <div class="action-panel-control-wrap action-panel-extra-margin-top"> <label for="rss-limit" class="action-panel-label"> Number of items displayed: </label> <select id="rss-limit" class="no-border-panel-selector rss-limit"> <option value="5">5</option> <option value="10">10</option> <option value="15" selected="selected">15</option> <option value="20">20</option> <option value="50">50</option> <option value="100">100</option> </select> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Creating..." data-ga-category="save_share" data-ga-action="alert" data-ga-label="save"> Create RSS </button> <button class="action-panel-cancel" aria-label="Close 'Your RSS' panel" ref="linksrc=close_rss_panel" aria-controls="rss-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="alert" data-ga-label="cancel"> Cancel </button> </div> <div class="action-panel-control-wrap rss-link-copy-wrap"> <label for="rss-link" class="usa-sr-only">RSS Link</label> <input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link"> <button type="button" disabled class="rss-link-copy-button disabled" data-ga-category="save_share" data-ga-action="rss" data-ga-label="copy"> Copy </button> </div> </form> </div> </div> </div> </div> <div class="article-page" id="article-page" data-article-pmid="29100083"> <aside class="page-sidebar"> <div class="inner-wrap"> <div class="full-text-links"> <div class="full-view"> <h3 class="title"> Full text links </h3> <div class="full-text-links-list"> <a class="link-item dialog-focus" href="https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(17)30377-4" target="_blank" rel="noopener" ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3048&itool=Abstract-def&log$=linkouticon&uid=29100083&db=pubmed&nlmid=0370475" title="See full text options at Elsevier Science" data-ga-category="full_text" data-ga-action="Elsevier Science" data-ga-label="29100083" ><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--linkinghub.elsevier.com-ihub-images-celloa.png" alt="full text provider logo"><span class="text"> Elsevier Science </span></a><a class="link-item pmc " href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/29100083/" target="_blank" rel="noopener" ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=29100083&db=pubmed&nlmid=0370475" title="Free full text at PubMed Central" data-ga-category="full_text" data-ga-action="PMC" data-ga-label="29100083" ><span class="text"> Free PMC article </span></a> </div> 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data-collections-open-dialog-enabled="false" data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F29100083%2F%23open-collections-dialog" data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog" class="dialog collections-dialog" aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form" class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors" data-existing-collections-url="/list-existing-collections/" data-add-to-existing-collection-url="/add-to-existing-collection/" data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/" data-myncbi-max-collection-name-length="100" data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="fF4FCqj7wCp5zijNlsfmKE49RvPiwptO7mZTaXleTCdmItUh53DeJNn2kpcHjZjp"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio" id="collections-action-dialog-new" class="collections-new" name="collections" value="new" data-ga-category="collections_button" data-ga-action="click" data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio" id="collections-action-dialog-existing" class="collections-existing" name="collections" value="existing" checked="true" data-ga-category="collections_button" data-ga-action="click" data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk"> Name your collection: </label><input type="text" name="add-to-new-collection" id="collections-action-dialog-add-to-new" class="collections-action-add-to-new" pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/" maxlength="100" data-ga-category="collections_button" data-ga-action="create_collection" data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message"> Name must be less than 100 characters </div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label"> Choose a collection: </label><select id="collections-action-dialog-add-to-existing" class="action-panel-selector collections-action-add-to-existing" data-ga-category="collections_button" data-ga-action="select_collection" data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore data-ga-category="collections_button" data-ga-action="click" data-ga-label="add"> Add </button><button class="action-panel-cancel" aria-label="Close 'Add to Collections' panel" ref="linksrc=close_collections_panel" aria-controls="collections-action-panel" aria-expanded="false" data-ga-category="collections_button" data-ga-action="click" data-ga-label="cancel"> Cancel </button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger" title="Open dialog with more actions to take" ref="linksrc=more_actions_btn"></button><div class="display-options" 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journal American journal of human genetics" data-pinger-ignore> Am J Hum Genet </button><div id="full-view-journal" class="journal-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for journal American journal of human genetics"><div class="title">Actions</div><div class="content"><ul class="journal-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Am+J+Hum+Genet%22%5Bjour%5D&sort=date&sort_order=desc" data-href="/?term=%22Am+J+Hum+Genet%22%5Bjour%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_journal_name_link&journal_abbrev=Am J Hum Genet" data-ga-category="search" data-ga-action="journal_link" data-ga-label="Am J Hum Genet"> Search in PubMed </a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link" ref ="linksrc=search_in_nlm_catalog_link" href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Am+J+Hum+Genet%22%5BTitle+Abbreviation%5D" data-ga-category="search_catalog" data-ga-action="journal_link" data-ga-label="Am J Hum Genet"> Search in NLM Catalog </a></li><li><a class="add-to-search-link dropdown-block-link" ref ="linksrc=add_to_search_link" role="button" data-search-term='"Am J Hum Genet"[jour]' data-ga-category="search" data-ga-action="add_to_search" data-ga-label='"Am J Hum Genet"[jour]' href="#"> Add to Search </a></li></ul></div></div></div><span class="period">. </span><span class="cit">2017 Nov 2;101(5):664-685.</span> </div> <span class="citation-doi"> doi: 10.1016/j.ajhg.2017.09.008. </span> </div> <h1 class="heading-title"> High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies </h1> <div class="inline-authors"> <div class="authors"> <div class="authors-list"> <span class="authors-list-item "><a class="full-name" href="/?term=Hamdan+FF&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Fadi F Hamdan">Fadi F Hamdan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada." href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Myers+CT&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Candace T Myers">Candace T Myers</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA." href="#full-view-affiliation-2" ref="linksrc=author_aff"> 2 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Cossette+P&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Patrick Cossette">Patrick Cossette</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada." href="#full-view-affiliation-3" ref="linksrc=author_aff"> 3 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Lemay+P&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Philippe Lemay">Philippe Lemay</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada." href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Spiegelman+D&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Dan Spiegelman">Dan Spiegelman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada." href="#full-view-affiliation-4" ref="linksrc=author_aff"> 4 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Laporte+AD&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Alexandre Dionne Laporte">Alexandre Dionne Laporte</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada." href="#full-view-affiliation-4" ref="linksrc=author_aff"> 4 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Nassif+C&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Christina Nassif">Christina Nassif</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada." href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Diallo+O&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Ousmane Diallo">Ousmane Diallo</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada." href="#full-view-affiliation-4" ref="linksrc=author_aff"> 4 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Monlong+J&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Jean Monlong">Jean Monlong</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="McGill University and Genome Quebec Innovation Center, Montreal, QC H3A 1A4, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada." href="#full-view-affiliation-5" ref="linksrc=author_aff"> 5 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Cadieux-Dion+M&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Maxime Cadieux-Dion">Maxime Cadieux-Dion</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada; Center for Pediatric Genomic Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA." href="#full-view-affiliation-6" ref="linksrc=author_aff"> 6 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Dobrzeniecka+S&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Sylvia Dobrzeniecka">Sylvia Dobrzeniecka</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada." href="#full-view-affiliation-7" ref="linksrc=author_aff"> 7 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Meloche+C&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Caroline Meloche">Caroline Meloche</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada." href="#full-view-affiliation-7" ref="linksrc=author_aff"> 7 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Retterer+K&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Kyle Retterer">Kyle Retterer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="GeneDx, Gaithersburg, MD 20877, USA." href="#full-view-affiliation-8" ref="linksrc=author_aff"> 8 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Cho+MT&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Megan T Cho">Megan T Cho</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="GeneDx, Gaithersburg, MD 20877, USA." href="#full-view-affiliation-8" ref="linksrc=author_aff"> 8 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Rosenfeld+JA&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Jill A Rosenfeld">Jill A Rosenfeld</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA." href="#full-view-affiliation-9" ref="linksrc=author_aff"> 9 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bi+W&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Weimin Bi">Weimin Bi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA." href="#full-view-affiliation-10" ref="linksrc=author_aff"> 10 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Massicotte+C&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Christine Massicotte">Christine Massicotte</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada." href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Miguet+M&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Marguerite Miguet">Marguerite Miguet</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada." href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Brunga+L&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Ledia Brunga">Ledia Brunga</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Program in Genetics and Genome Biology, Division of Neurology, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 0A4, Canada." href="#full-view-affiliation-11" ref="linksrc=author_aff"> 11 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Regan+BM&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Brigid M Regan">Brigid M Regan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canada." href="#full-view-affiliation-12" ref="linksrc=author_aff"> 12 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Mo+K&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Kelly Mo">Kelly Mo</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canada." href="#full-view-affiliation-12" ref="linksrc=author_aff"> 12 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Tam+C&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Cory Tam">Cory Tam</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canada." href="#full-view-affiliation-12" ref="linksrc=author_aff"> 12 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Schneider+A&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Amy Schneider">Amy Schneider</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia." href="#full-view-affiliation-13" ref="linksrc=author_aff"> 13 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Hollingsworth+G&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Georgie Hollingsworth">Georgie Hollingsworth</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia." href="#full-view-affiliation-13" ref="linksrc=author_aff"> 13 </a></sup><span class="semicolon">; </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Deciphering+Developmental+Disorders+Study%5BCorporate+Author%5D" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Deciphering Developmental Disorders Study">Deciphering Developmental Disorders Study</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK." href="#full-view-affiliation-14" ref="linksrc=author_aff"> 14 </a></sup><span class="semicolon">; </span></span><span class="authors-list-item "><a class="full-name" href="/?term=FitzPatrick+DR&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="David R FitzPatrick">David R FitzPatrick</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK." href="#full-view-affiliation-15" ref="linksrc=author_aff"> 15 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Donaldson+A&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Alan Donaldson">Alan Donaldson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Clinical Genetics Service, University Hospitals Bristol NHS Foundation Trust, St. Michael's Hospital, St. Michael's Hill, Bristol BS2 8DT, UK." href="#full-view-affiliation-16" ref="linksrc=author_aff"> 16 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Canham+N&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Natalie Canham">Natalie Canham</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK." href="#full-view-affiliation-17" ref="linksrc=author_aff"> 17 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Blair+E&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Edward Blair">Edward Blair</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Oxford Centre for Genomic Medicine, ACE building Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK." href="#full-view-affiliation-18" ref="linksrc=author_aff"> 18 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Kerr+B&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Bronwyn Kerr">Bronwyn Kerr</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK." href="#full-view-affiliation-19" ref="linksrc=author_aff"> 19 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Fry+AE&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Andrew E Fry">Andrew E Fry</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK." href="#full-view-affiliation-20" ref="linksrc=author_aff"> 20 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Thomas+RH&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Rhys H Thomas">Rhys H Thomas</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="MRC Centre for Neuropsychiatric Genetics & Genomics, Hadyn Ellis Building, Cathays, Cardiff University, Cardiff CF24 4HQ, UK." href="#full-view-affiliation-21" ref="linksrc=author_aff"> 21 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Shelagh+J&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Joss Shelagh">Joss Shelagh</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK." href="#full-view-affiliation-22" ref="linksrc=author_aff"> 22 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Hurst+JA&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Jane A Hurst">Jane A Hurst</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London WC1N 3JH, UK." href="#full-view-affiliation-23" ref="linksrc=author_aff"> 23 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Brittain+H&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Helen Brittain">Helen Brittain</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London WC1N 3JH, UK." href="#full-view-affiliation-23" ref="linksrc=author_aff"> 23 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Blyth+M&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Moira Blyth">Moira Blyth</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds LS7 4SA, UK." href="#full-view-affiliation-24" ref="linksrc=author_aff"> 24 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Lebel+RR&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Robert Roger Lebel">Robert Roger Lebel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Section of Medical Genetics, SUNY Upstate Medical University, Syracuse, NY 13210, USA." href="#full-view-affiliation-25" ref="linksrc=author_aff"> 25 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Gerkes+EH&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Erica H Gerkes">Erica H Gerkes</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 RB Groningen, the Netherlands." href="#full-view-affiliation-26" ref="linksrc=author_aff"> 26 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Davis-Keppen+L&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Laura Davis-Keppen">Laura Davis-Keppen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of South Dakota Sanford School of Medicine, Sioux Falls, SD 57117, USA." href="#full-view-affiliation-27" ref="linksrc=author_aff"> 27 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Stein+Q&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Quinn Stein">Quinn Stein</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Augustana-Sanford Genetic Counseling Graduate Program, Sioux Falls, SD 57197, USA." href="#full-view-affiliation-28" ref="linksrc=author_aff"> 28 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Chung+WK&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Wendy K Chung">Wendy K Chung</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Departments of Medicine and Pediatrics, Columbia University Medical Center, New York, NY 10032, USA." href="#full-view-affiliation-29" ref="linksrc=author_aff"> 29 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Dorison+SJ&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Sara J Dorison">Sara J Dorison</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Baptist Hospital, Miami, FL 33176 USA." href="#full-view-affiliation-30" ref="linksrc=author_aff"> 30 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Benke+PJ&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Paul J Benke">Paul J Benke</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA." href="#full-view-affiliation-31" ref="linksrc=author_aff"> 31 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Fassi+E&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Emily Fassi">Emily Fassi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA." href="#full-view-affiliation-32" ref="linksrc=author_aff"> 32 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Corsten-Janssen+N&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Nicole Corsten-Janssen">Nicole Corsten-Janssen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 RB Groningen, the Netherlands." href="#full-view-affiliation-26" ref="linksrc=author_aff"> 26 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Kamsteeg+EJ&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Erik-Jan Kamsteeg">Erik-Jan Kamsteeg</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands." href="#full-view-affiliation-33" ref="linksrc=author_aff"> 33 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Mau-Them+FT&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Frederic T Mau-Them">Frederic T Mau-Them</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Génétique des Anomalies du Développement, Centre Hospitalier Universitaire de Dijon, 21000 Dijon, France; Équipe INSERM 1231, Génétique des Anomalies du Développement, Université de Bourgogne, 21000 Dijon, France." href="#full-view-affiliation-34" ref="linksrc=author_aff"> 34 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bruel+AL&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Ange-Line Bruel">Ange-Line Bruel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Génétique des Anomalies du Développement, Centre Hospitalier Universitaire de Dijon, 21000 Dijon, France; Équipe INSERM 1231, Génétique des Anomalies du Développement, Université de Bourgogne, 21000 Dijon, France." href="#full-view-affiliation-34" ref="linksrc=author_aff"> 34 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Verloes+A&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Alain Verloes">Alain Verloes</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetics Department, Assistance Publique - Hôpitaux de Paris, Robert-Debré University Hospital, 75000 Paris, France." href="#full-view-affiliation-35" ref="linksrc=author_aff"> 35 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=%C3%95unap+K&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Katrin Õunap">Katrin Õunap</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu 51014, Estonia." href="#full-view-affiliation-36" ref="linksrc=author_aff"> 36 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Wojcik+MH&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Monica H Wojcik">Monica H Wojcik</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics and Genomics and Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA." href="#full-view-affiliation-37" ref="linksrc=author_aff"> 37 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Albert+DVF&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Dara V F Albert">Dara V F Albert</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Nationwide Children's Hospital and Ohio State University, Department of Pediatrics, Division of Neurology, Columbus, OH 43205, USA." href="#full-view-affiliation-38" ref="linksrc=author_aff"> 38 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Venkateswaran+S&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Sunita Venkateswaran">Sunita Venkateswaran</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada." href="#full-view-affiliation-39" ref="linksrc=author_aff"> 39 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Ware+T&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Tyson Ware">Tyson Ware</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of Tasmania, Royal Hobart Hospital, Department of Paediatrics, Hobart, TAS 7000, Australia." href="#full-view-affiliation-40" ref="linksrc=author_aff"> 40 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Jones+D&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Dean Jones">Dean Jones</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="School of Medicine, University of Tasmania, Hobart, TAS 7000, Australia." href="#full-view-affiliation-41" ref="linksrc=author_aff"> 41 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Liu+YC&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Yu-Chi Liu">Yu-Chi Liu</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia." href="#full-view-affiliation-42" ref="linksrc=author_aff"> 42 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Mohammad+SS&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Shekeeb S Mohammad">Shekeeb S Mohammad</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Children's Hospital at Westmead Clinical School, University of Sydney, Westmead, NSW 2145, Australia." href="#full-view-affiliation-43" ref="linksrc=author_aff"> 43 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bizargity+P&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Peyman Bizargity">Peyman Bizargity</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA." href="#full-view-affiliation-9" ref="linksrc=author_aff"> 9 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bacino+CA&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Carlos A Bacino">Carlos A Bacino</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA." href="#full-view-affiliation-44" ref="linksrc=author_aff"> 44 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Leuzzi+V&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Vincenzo Leuzzi">Vincenzo Leuzzi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dipartimento di Pediatria e di Neuropsichiatria Infantile, Università La Sapienza, 00185 Rome, Italy." href="#full-view-affiliation-45" ref="linksrc=author_aff"> 45 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Martinelli+S&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Simone Martinelli">Simone Martinelli</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy." href="#full-view-affiliation-46" ref="linksrc=author_aff"> 46 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Dallapiccola+B&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Bruno Dallapiccola">Bruno Dallapiccola</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy." href="#full-view-affiliation-47" ref="linksrc=author_aff"> 47 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Tartaglia+M&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Marco Tartaglia">Marco Tartaglia</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy." href="#full-view-affiliation-47" ref="linksrc=author_aff"> 47 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Blumkin+L&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Lubov Blumkin">Lubov Blumkin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Metabolic Neurogenetic Clinic and Pediatric Movement Disorders Clinic, Wolfson Medical Center, Holon 5822012, Israel." href="#full-view-affiliation-48" ref="linksrc=author_aff"> 48 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Wierenga+KJ&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Klaas J Wierenga">Klaas J Wierenga</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA." href="#full-view-affiliation-49" ref="linksrc=author_aff"> 49 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Purcarin+G&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Gabriela Purcarin">Gabriela Purcarin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA." href="#full-view-affiliation-49" ref="linksrc=author_aff"> 49 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=O%27Byrne+JJ&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="James J O'Byrne">James J O'Byrne</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada." href="#full-view-affiliation-50" ref="linksrc=author_aff"> 50 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Stockler+S&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Sylvia Stockler">Sylvia Stockler</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada." href="#full-view-affiliation-50" ref="linksrc=author_aff"> 50 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Lehman+A&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Anna Lehman">Anna Lehman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada." href="#full-view-affiliation-51" ref="linksrc=author_aff"> 51 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Keren+B&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Boris Keren">Boris Keren</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe de Recherche Clinique "Déficiences Intellectuelles et Autisme," Université Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, Paris 75013, France; Sorbonne Universités, Université Pierre et Marie Curie (Université Paris 06), UMRS 1127, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle Épinière, Paris 75013, France." href="#full-view-affiliation-52" ref="linksrc=author_aff"> 52 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Nougues+MC&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Marie-Christine Nougues">Marie-Christine Nougues</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Assistance Publique - Hôpitaux de Paris, Hôpital d'Enfants Armand Trousseau, Service de Neuropédiatrie, Paris 75012, France." href="#full-view-affiliation-53" ref="linksrc=author_aff"> 53 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Mignot+C&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Cyril Mignot">Cyril Mignot</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe de Recherche Clinique "Déficiences Intellectuelles et Autisme," Université Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, Paris 75013, France; Sorbonne Universités, Université Pierre et Marie Curie (Université Paris 06), UMRS 1127, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle Épinière, Paris 75013, France." href="#full-view-affiliation-52" ref="linksrc=author_aff"> 52 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Auvin+S&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Stéphane Auvin">Stéphane Auvin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Université Paris Diderot, Sorbonne Paris Cité, INSERM UMR 1141, Paris 75019, France; Assistance Publique - Hôpitaux de Paris, Hôpital Robert Debré, Service de Neurologie Pédiatrique, Paris 75019, France." href="#full-view-affiliation-54" ref="linksrc=author_aff"> 54 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Nava+C&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Caroline Nava">Caroline Nava</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe de Recherche Clinique "Déficiences Intellectuelles et Autisme," Université Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, Paris 75013, France; Sorbonne Universités, Université Pierre et Marie Curie (Université Paris 06), UMRS 1127, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle Épinière, Paris 75013, France." href="#full-view-affiliation-52" ref="linksrc=author_aff"> 52 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Hiatt+SM&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Susan M Hiatt">Susan M Hiatt</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA." href="#full-view-affiliation-55" ref="linksrc=author_aff"> 55 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bebin+M&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Martina Bebin">Martina Bebin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USA." href="#full-view-affiliation-56" ref="linksrc=author_aff"> 56 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Shao+Y&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Yunru Shao">Yunru Shao</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA." href="#full-view-affiliation-9" ref="linksrc=author_aff"> 9 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Scaglia+F&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Fernando Scaglia">Fernando Scaglia</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA." href="#full-view-affiliation-9" ref="linksrc=author_aff"> 9 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Lalani+SR&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Seema R Lalani">Seema R Lalani</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA." href="#full-view-affiliation-9" ref="linksrc=author_aff"> 9 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Frye+RE&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Richard E Frye">Richard E Frye</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA; Arkansas Children's Research Institute, Little Rock, AR 72205, USA." href="#full-view-affiliation-57" ref="linksrc=author_aff"> 57 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Jarjour+IT&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Imad T Jarjour">Imad T Jarjour</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA." href="#full-view-affiliation-58" ref="linksrc=author_aff"> 58 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Jacques+S&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Stéphanie Jacques">Stéphanie Jacques</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Rouyn-Noranda, Rouyn-Noranda, QC J9X 2B2, Canada." href="#full-view-affiliation-59" ref="linksrc=author_aff"> 59 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Boucher+RM&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Renee-Myriam Boucher">Renee-Myriam Boucher</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Centre Hospitalier Universitaire de Québec, Quebec, QC G1V 4G2, Canada." href="#full-view-affiliation-60" ref="linksrc=author_aff"> 60 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Riou+E&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Emilie Riou">Emilie Riou</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada." href="#full-view-affiliation-61" ref="linksrc=author_aff"> 61 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Srour+M&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Myriam Srour">Myriam Srour</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, McGill University, Montreal, QC H3A 1A4, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 1A4, Canada." href="#full-view-affiliation-62" ref="linksrc=author_aff"> 62 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Carmant+L&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Lionel Carmant">Lionel Carmant</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada." href="#full-view-affiliation-63" ref="linksrc=author_aff"> 63 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Lortie+A&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Anne Lortie">Anne Lortie</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada." href="#full-view-affiliation-64" ref="linksrc=author_aff"> 64 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Major+P&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Philippe Major">Philippe Major</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada." href="#full-view-affiliation-64" ref="linksrc=author_aff"> 64 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Diadori+P&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Paola Diadori">Paola Diadori</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada." href="#full-view-affiliation-64" ref="linksrc=author_aff"> 64 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Dubeau+F&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="François Dubeau">François Dubeau</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada." href="#full-view-affiliation-4" ref="linksrc=author_aff"> 4 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=D%27Anjou+G&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Guy D'Anjou">Guy D'Anjou</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada." href="#full-view-affiliation-64" ref="linksrc=author_aff"> 64 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bourque+G&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Guillaume Bourque">Guillaume Bourque</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="McGill University and Genome Quebec Innovation Center, Montreal, QC H3A 1A4, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada." href="#full-view-affiliation-5" ref="linksrc=author_aff"> 5 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Berkovic+SF&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Samuel F Berkovic">Samuel F Berkovic</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia." href="#full-view-affiliation-13" ref="linksrc=author_aff"> 13 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Sadleir+LG&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Lynette G Sadleir">Lynette G Sadleir</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics and Child Health, University of Otago, Wellington 9016, New Zealand." href="#full-view-affiliation-65" ref="linksrc=author_aff"> 65 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Campeau+PM&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Philippe M Campeau">Philippe M Campeau</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada." href="#full-view-affiliation-66" ref="linksrc=author_aff"> 66 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Kibar+Z&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Zoha Kibar">Zoha Kibar</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada." href="#full-view-affiliation-67" ref="linksrc=author_aff"> 67 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Lafreni%C3%A8re+RG&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Ronald G Lafrenière">Ronald G Lafrenière</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada." href="#full-view-affiliation-7" ref="linksrc=author_aff"> 7 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Girard+SL&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Simon L Girard">Simon L Girard</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada; Département des Sciences Fondamentales, Université du Québec à Chicoutimi, Chicoutimi, QC G7H 2B1, Canada." href="#full-view-affiliation-68" ref="linksrc=author_aff"> 68 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Mercimek-Mahmutoglu+S&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Saadet Mercimek-Mahmutoglu">Saadet Mercimek-Mahmutoglu</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada." href="#full-view-affiliation-69" ref="linksrc=author_aff"> 69 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Boelman+C&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Cyrus Boelman">Cyrus Boelman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada." href="#full-view-affiliation-70" ref="linksrc=author_aff"> 70 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Rouleau+GA&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Guy A Rouleau">Guy A Rouleau</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada." href="#full-view-affiliation-4" ref="linksrc=author_aff"> 4 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Scheffer+IE&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Ingrid E Scheffer">Ingrid E Scheffer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia; Department of Pediatrics, University of Melbourne Royal Children's Hospital, Parkville, VIC 3052, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084, Australia." href="#full-view-affiliation-71" ref="linksrc=author_aff"> 71 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Mefford+HC&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Heather C Mefford">Heather C Mefford</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA." href="#full-view-affiliation-2" ref="linksrc=author_aff"> 2 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Andrade+DM&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Danielle M Andrade">Danielle M Andrade</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canada." href="#full-view-affiliation-12" ref="linksrc=author_aff"> 12 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Rossignol+E&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Elsa Rossignol">Elsa Rossignol</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada." href="#full-view-affiliation-63" ref="linksrc=author_aff"> 63 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Minassian+BA&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Berge A Minassian">Berge A Minassian</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Program in Genetics and Genome Biology, Division of Neurology, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 0A4, Canada; Division of Child Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX 75390, USA. Electronic address: berge.minassian@sickkids.ca." href="#full-view-affiliation-72" ref="linksrc=author_aff"> 72 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Michaud+JL&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Jacques L Michaud">Jacques L Michaud</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address: jacques.michaud@recherche-ste-justine.qc.ca." href="#full-view-affiliation-73" ref="linksrc=author_aff"> 73 </a></sup></span> </div> </div> </div> <div class="short-article-details"> Affiliations <button class="more-details" id="toggle-authors" data-alt-text="Collapse" aria-controls="expanded-authors" aria-expanded="false" data-pinger-ignore data-fetch-url="/29100083/long-authors/" data-id-prefix=""> <span class="title"> Expand </span> </button> </div> <div class="extended-article-details" id="expanded-authors" aria-hidden="true"> <div class="expanded-authors" id="full-view-expanded-authors"> <div class="affiliations"> <h3 class="title"> Affiliations </h3> <ul class="item-list"> <li data-affiliation-id="full-view-affiliation-1" id="full-view-affiliation-1" ><sup class="key">1</sup> Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada.</li> <li data-affiliation-id="full-view-affiliation-2" id="full-view-affiliation-2" ><sup class="key">2</sup> Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.</li> <li data-affiliation-id="full-view-affiliation-3" id="full-view-affiliation-3" ><sup class="key">3</sup> Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada.</li> <li data-affiliation-id="full-view-affiliation-4" id="full-view-affiliation-4" ><sup class="key">4</sup> Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada.</li> <li data-affiliation-id="full-view-affiliation-5" id="full-view-affiliation-5" ><sup class="key">5</sup> McGill University and Genome Quebec Innovation Center, Montreal, QC H3A 1A4, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada.</li> <li data-affiliation-id="full-view-affiliation-6" id="full-view-affiliation-6" ><sup class="key">6</sup> Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada; Center for Pediatric Genomic Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA.</li> <li data-affiliation-id="full-view-affiliation-7" id="full-view-affiliation-7" ><sup class="key">7</sup> Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada.</li> <li data-affiliation-id="full-view-affiliation-8" id="full-view-affiliation-8" ><sup class="key">8</sup> GeneDx, Gaithersburg, MD 20877, USA.</li> <li data-affiliation-id="full-view-affiliation-9" id="full-view-affiliation-9" ><sup class="key">9</sup> Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</li> <li data-affiliation-id="full-view-affiliation-10" id="full-view-affiliation-10" ><sup class="key">10</sup> Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA.</li> <li data-affiliation-id="full-view-affiliation-11" id="full-view-affiliation-11" ><sup class="key">11</sup> Program in Genetics and Genome Biology, Division of Neurology, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 0A4, Canada.</li> <li data-affiliation-id="full-view-affiliation-12" id="full-view-affiliation-12" ><sup class="key">12</sup> Division of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canada.</li> <li data-affiliation-id="full-view-affiliation-13" id="full-view-affiliation-13" ><sup class="key">13</sup> Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.</li> <li data-affiliation-id="full-view-affiliation-14" id="full-view-affiliation-14" ><sup class="key">14</sup> Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.</li> <li data-affiliation-id="full-view-affiliation-15" id="full-view-affiliation-15" ><sup class="key">15</sup> MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.</li> <li data-affiliation-id="full-view-affiliation-16" id="full-view-affiliation-16" ><sup class="key">16</sup> Clinical Genetics Service, University Hospitals Bristol NHS Foundation Trust, St. Michael's Hospital, St. Michael's Hill, Bristol BS2 8DT, UK.</li> <li data-affiliation-id="full-view-affiliation-17" id="full-view-affiliation-17" ><sup class="key">17</sup> North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK.</li> <li data-affiliation-id="full-view-affiliation-18" id="full-view-affiliation-18" ><sup class="key">18</sup> Oxford Centre for Genomic Medicine, ACE building Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK.</li> <li data-affiliation-id="full-view-affiliation-19" id="full-view-affiliation-19" ><sup class="key">19</sup> Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK.</li> <li data-affiliation-id="full-view-affiliation-20" id="full-view-affiliation-20" ><sup class="key">20</sup> Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK.</li> <li data-affiliation-id="full-view-affiliation-21" id="full-view-affiliation-21" ><sup class="key">21</sup> MRC Centre for Neuropsychiatric Genetics & Genomics, Hadyn Ellis Building, Cathays, Cardiff University, Cardiff CF24 4HQ, UK.</li> <li data-affiliation-id="full-view-affiliation-22" id="full-view-affiliation-22" ><sup class="key">22</sup> West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.</li> <li data-affiliation-id="full-view-affiliation-23" id="full-view-affiliation-23" ><sup class="key">23</sup> North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.</li> <li data-affiliation-id="full-view-affiliation-24" id="full-view-affiliation-24" ><sup class="key">24</sup> Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds LS7 4SA, UK.</li> <li data-affiliation-id="full-view-affiliation-25" id="full-view-affiliation-25" ><sup class="key">25</sup> Department of Pediatrics, Section of Medical Genetics, SUNY Upstate Medical University, Syracuse, NY 13210, USA.</li> <li data-affiliation-id="full-view-affiliation-26" id="full-view-affiliation-26" ><sup class="key">26</sup> University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 RB Groningen, the Netherlands.</li> <li data-affiliation-id="full-view-affiliation-27" id="full-view-affiliation-27" ><sup class="key">27</sup> University of South Dakota Sanford School of Medicine, Sioux Falls, SD 57117, USA.</li> <li data-affiliation-id="full-view-affiliation-28" id="full-view-affiliation-28" ><sup class="key">28</sup> Augustana-Sanford Genetic Counseling Graduate Program, Sioux Falls, SD 57197, USA.</li> <li data-affiliation-id="full-view-affiliation-29" id="full-view-affiliation-29" ><sup class="key">29</sup> Departments of Medicine and Pediatrics, Columbia University Medical Center, New York, NY 10032, USA.</li> <li data-affiliation-id="full-view-affiliation-30" id="full-view-affiliation-30" ><sup class="key">30</sup> Baptist Hospital, Miami, FL 33176 USA.</li> <li data-affiliation-id="full-view-affiliation-31" id="full-view-affiliation-31" ><sup class="key">31</sup> Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA.</li> <li data-affiliation-id="full-view-affiliation-32" id="full-view-affiliation-32" ><sup class="key">32</sup> Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.</li> <li data-affiliation-id="full-view-affiliation-33" id="full-view-affiliation-33" ><sup class="key">33</sup> Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</li> <li data-affiliation-id="full-view-affiliation-34" id="full-view-affiliation-34" ><sup class="key">34</sup> Centre de Génétique des Anomalies du Développement, Centre Hospitalier Universitaire de Dijon, 21000 Dijon, France; Équipe INSERM 1231, Génétique des Anomalies du Développement, Université de Bourgogne, 21000 Dijon, France.</li> <li data-affiliation-id="full-view-affiliation-35" id="full-view-affiliation-35" ><sup class="key">35</sup> Genetics Department, Assistance Publique - Hôpitaux de Paris, Robert-Debré University Hospital, 75000 Paris, France.</li> <li data-affiliation-id="full-view-affiliation-36" id="full-view-affiliation-36" ><sup class="key">36</sup> Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu 51014, Estonia.</li> <li data-affiliation-id="full-view-affiliation-37" id="full-view-affiliation-37" ><sup class="key">37</sup> Division of Genetics and Genomics and Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.</li> <li data-affiliation-id="full-view-affiliation-38" id="full-view-affiliation-38" ><sup class="key">38</sup> Nationwide Children's Hospital and Ohio State University, Department of Pediatrics, Division of Neurology, Columbus, OH 43205, USA.</li> <li data-affiliation-id="full-view-affiliation-39" id="full-view-affiliation-39" ><sup class="key">39</sup> Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.</li> <li data-affiliation-id="full-view-affiliation-40" id="full-view-affiliation-40" ><sup class="key">40</sup> University of Tasmania, Royal Hobart Hospital, Department of Paediatrics, Hobart, TAS 7000, Australia.</li> <li data-affiliation-id="full-view-affiliation-41" id="full-view-affiliation-41" ><sup class="key">41</sup> School of Medicine, University of Tasmania, Hobart, TAS 7000, Australia.</li> <li data-affiliation-id="full-view-affiliation-42" id="full-view-affiliation-42" ><sup class="key">42</sup> Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.</li> <li data-affiliation-id="full-view-affiliation-43" id="full-view-affiliation-43" ><sup class="key">43</sup> Children's Hospital at Westmead Clinical School, University of Sydney, Westmead, NSW 2145, Australia.</li> <li data-affiliation-id="full-view-affiliation-44" id="full-view-affiliation-44" ><sup class="key">44</sup> Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.</li> <li data-affiliation-id="full-view-affiliation-45" id="full-view-affiliation-45" ><sup class="key">45</sup> Dipartimento di Pediatria e di Neuropsichiatria Infantile, Università La Sapienza, 00185 Rome, Italy.</li> <li data-affiliation-id="full-view-affiliation-46" id="full-view-affiliation-46" ><sup class="key">46</sup> Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy.</li> <li data-affiliation-id="full-view-affiliation-47" id="full-view-affiliation-47" ><sup class="key">47</sup> Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy.</li> <li data-affiliation-id="full-view-affiliation-48" id="full-view-affiliation-48" ><sup class="key">48</sup> Metabolic Neurogenetic Clinic and Pediatric Movement Disorders Clinic, Wolfson Medical Center, Holon 5822012, Israel.</li> <li data-affiliation-id="full-view-affiliation-49" id="full-view-affiliation-49" ><sup class="key">49</sup> University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.</li> <li data-affiliation-id="full-view-affiliation-50" id="full-view-affiliation-50" ><sup class="key">50</sup> University of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada.</li> <li data-affiliation-id="full-view-affiliation-51" id="full-view-affiliation-51" ><sup class="key">51</sup> Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.</li> <li data-affiliation-id="full-view-affiliation-52" id="full-view-affiliation-52" ><sup class="key">52</sup> Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe de Recherche Clinique "Déficiences Intellectuelles et Autisme," Université Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, Paris 75013, France; Sorbonne Universités, Université Pierre et Marie Curie (Université Paris 06), UMRS 1127, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle Épinière, Paris 75013, France.</li> <li data-affiliation-id="full-view-affiliation-53" id="full-view-affiliation-53" ><sup class="key">53</sup> Assistance Publique - Hôpitaux de Paris, Hôpital d'Enfants Armand Trousseau, Service de Neuropédiatrie, Paris 75012, France.</li> <li data-affiliation-id="full-view-affiliation-54" id="full-view-affiliation-54" ><sup class="key">54</sup> Université Paris Diderot, Sorbonne Paris Cité, INSERM UMR 1141, Paris 75019, France; Assistance Publique - Hôpitaux de Paris, Hôpital Robert Debré, Service de Neurologie Pédiatrique, Paris 75019, France.</li> <li data-affiliation-id="full-view-affiliation-55" id="full-view-affiliation-55" ><sup class="key">55</sup> HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.</li> <li data-affiliation-id="full-view-affiliation-56" id="full-view-affiliation-56" ><sup class="key">56</sup> Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.</li> <li data-affiliation-id="full-view-affiliation-57" id="full-view-affiliation-57" ><sup class="key">57</sup> Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA; Arkansas Children's Research Institute, Little Rock, AR 72205, USA.</li> <li data-affiliation-id="full-view-affiliation-58" id="full-view-affiliation-58" ><sup class="key">58</sup> Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA.</li> <li data-affiliation-id="full-view-affiliation-59" id="full-view-affiliation-59" ><sup class="key">59</sup> Centre Hospitalier Rouyn-Noranda, Rouyn-Noranda, QC J9X 2B2, Canada.</li> <li data-affiliation-id="full-view-affiliation-60" id="full-view-affiliation-60" ><sup class="key">60</sup> Division of Neurology, Centre Hospitalier Universitaire de Québec, Quebec, QC G1V 4G2, Canada.</li> <li data-affiliation-id="full-view-affiliation-61" id="full-view-affiliation-61" ><sup class="key">61</sup> Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada.</li> <li data-affiliation-id="full-view-affiliation-62" id="full-view-affiliation-62" ><sup class="key">62</sup> Department of Pediatrics, McGill University, Montreal, QC H3A 1A4, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 1A4, Canada.</li> <li data-affiliation-id="full-view-affiliation-63" id="full-view-affiliation-63" ><sup class="key">63</sup> Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada.</li> <li data-affiliation-id="full-view-affiliation-64" id="full-view-affiliation-64" ><sup class="key">64</sup> Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada.</li> <li data-affiliation-id="full-view-affiliation-65" id="full-view-affiliation-65" ><sup class="key">65</sup> Department of Pediatrics and Child Health, University of Otago, Wellington 9016, New Zealand.</li> <li data-affiliation-id="full-view-affiliation-66" id="full-view-affiliation-66" ><sup class="key">66</sup> Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada.</li> <li data-affiliation-id="full-view-affiliation-67" id="full-view-affiliation-67" ><sup class="key">67</sup> Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada.</li> <li data-affiliation-id="full-view-affiliation-68" id="full-view-affiliation-68" ><sup class="key">68</sup> Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada; Département des Sciences Fondamentales, Université du Québec à Chicoutimi, Chicoutimi, QC G7H 2B1, Canada.</li> <li data-affiliation-id="full-view-affiliation-69" id="full-view-affiliation-69" ><sup class="key">69</sup> Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.</li> <li data-affiliation-id="full-view-affiliation-70" id="full-view-affiliation-70" ><sup class="key">70</sup> Division of Neurology, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada.</li> <li data-affiliation-id="full-view-affiliation-71" id="full-view-affiliation-71" ><sup class="key">71</sup> Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia; Department of Pediatrics, University of Melbourne Royal Children's Hospital, Parkville, VIC 3052, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084, Australia.</li> <li data-affiliation-id="full-view-affiliation-72" id="full-view-affiliation-72" ><sup class="key">72</sup> Program in Genetics and Genome Biology, Division of Neurology, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 0A4, Canada; Division of Child Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX 75390, USA. Electronic address: berge.minassian@sickkids.ca.</li> <li data-affiliation-id="full-view-affiliation-73" id="full-view-affiliation-73" ><sup class="key">73</sup> Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address: jacques.michaud@recherche-ste-justine.qc.ca.</li> </ul> </div> </div> </div> <ul class="identifiers" id="full-view-identifiers"> <li> <span class="identifier pubmed"> <span class="id-label"> PMID: </span> <strong class="current-id" title="PubMed ID">29100083</strong> </span> </li> <li> <span class="identifier pmc"> <span class="id-label"> PMCID: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&article_id=PMC5673604&id_type=PMC" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC5673604/" data-ga-category="full_text" data-ga-action="PMCID" > PMC5673604 </a> </span> </li> <li> <span class="identifier doi"> <span class="id-label"> DOI: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&article_id=10.1016/j.ajhg.2017.09.008&id_type=DOI" href="https://doi.org/10.1016/j.ajhg.2017.09.008" data-ga-category="full_text" data-ga-action="DOI" > 10.1016/j.ajhg.2017.09.008 </a> </span> </li> </ul> <div class="in-clipboard-label " hidden> Item in Clipboard </div> </div> <div class="short-view" id="short-view-heading"> <div class="publication-type" >Meta-Analysis</div> <h1 class="heading-title"> High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies </h1> <div class="short-citation"> <span class="authors-list"> <span class="authors-list-item "><span class="full-name">Fadi F Hamdan</span><span class="citation-separator"> et al.</span></span> </span> <span class="citation-journal"> Am J Hum Genet<span class="citation-separator">.</span> </span> <span class="date"> <time class="citation-year" datetime="2017">2017</time><span class="citation-separator">.</span> </span> </div> <div class="more-article-details-section with-display-settings"> <button class="more-article-details" id="toggle-article-details" data-alt-text="Hide details" ref="linksrc=toggle_article_details" aria-controls="full-article-details" aria-expanded="false" 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<div class="article-source"> <div class="journal-actions dropdown-block"><button id="short-view-journal-trigger" class="journal-actions-trigger trigger" ref="linksrc=journal_actions_btn" title="American journal of human genetics" tabindex="0" aria-controls="short-view-journal" aria-expanded="false" aria-label="Toggle dropdown menu for journal American journal of human genetics" data-pinger-ignore> Am J Hum Genet </button><div id="short-view-journal" class="journal-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for journal American journal of human genetics"><div class="title">Actions</div><div class="content"><ul class="journal-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Am+J+Hum+Genet%22%5Bjour%5D&sort=date&sort_order=desc" data-href="/?term=%22Am+J+Hum+Genet%22%5Bjour%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_journal_name_link&journal_abbrev=Am J Hum Genet" data-ga-category="search" data-ga-action="journal_link" data-ga-label="Am J Hum Genet"> Search in PubMed </a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link" ref ="linksrc=search_in_nlm_catalog_link" href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Am+J+Hum+Genet%22%5BTitle+Abbreviation%5D" data-ga-category="search_catalog" data-ga-action="journal_link" data-ga-label="Am J Hum Genet"> Search in NLM Catalog </a></li><li><a class="add-to-search-link dropdown-block-link" ref ="linksrc=add_to_search_link" role="button" data-search-term='"Am J Hum Genet"[jour]' data-ga-category="search" data-ga-action="add_to_search" data-ga-label='"Am J Hum Genet"[jour]' href="#"> Add to Search </a></li></ul></div></div></div><span class="period">. </span><span class="cit">2017 Nov 2;101(5):664-685.</span> </div> <span class="citation-doi"> doi: 10.1016/j.ajhg.2017.09.008. </span> </div> <div class="expanded-authors" id="short-view-expanded-authors"> <div class="authors"> <h3 class="title"> Authors </h3> <div class="authors-list"> <span class="authors-list-item "><a class="full-name" href="/?term=Hamdan+FF&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Fadi F Hamdan">Fadi F Hamdan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada." href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Myers+CT&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Candace T Myers">Candace T Myers</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA." href="#short-view-affiliation-2" ref="linksrc=author_aff"> 2 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Cossette+P&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Patrick Cossette">Patrick Cossette</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada." href="#short-view-affiliation-3" ref="linksrc=author_aff"> 3 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Lemay+P&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Philippe Lemay">Philippe Lemay</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada." href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Spiegelman+D&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Dan Spiegelman">Dan Spiegelman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada." href="#short-view-affiliation-4" ref="linksrc=author_aff"> 4 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Laporte+AD&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Alexandre Dionne Laporte">Alexandre Dionne Laporte</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada." href="#short-view-affiliation-4" ref="linksrc=author_aff"> 4 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Nassif+C&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Christina Nassif">Christina Nassif</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada." href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Diallo+O&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Ousmane Diallo">Ousmane Diallo</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada." href="#short-view-affiliation-4" ref="linksrc=author_aff"> 4 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Monlong+J&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Jean Monlong">Jean Monlong</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="McGill University and Genome Quebec Innovation Center, Montreal, QC H3A 1A4, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada." href="#short-view-affiliation-5" ref="linksrc=author_aff"> 5 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Cadieux-Dion+M&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Maxime Cadieux-Dion">Maxime Cadieux-Dion</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada; Center for Pediatric Genomic Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA." href="#short-view-affiliation-6" ref="linksrc=author_aff"> 6 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Dobrzeniecka+S&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Sylvia Dobrzeniecka">Sylvia Dobrzeniecka</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada." href="#short-view-affiliation-7" ref="linksrc=author_aff"> 7 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Meloche+C&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Caroline Meloche">Caroline Meloche</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada." href="#short-view-affiliation-7" ref="linksrc=author_aff"> 7 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Retterer+K&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Kyle Retterer">Kyle Retterer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="GeneDx, Gaithersburg, MD 20877, USA." href="#short-view-affiliation-8" ref="linksrc=author_aff"> 8 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Cho+MT&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Megan T Cho">Megan T Cho</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="GeneDx, Gaithersburg, MD 20877, USA." href="#short-view-affiliation-8" ref="linksrc=author_aff"> 8 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Rosenfeld+JA&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Jill A Rosenfeld">Jill A Rosenfeld</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA." href="#short-view-affiliation-9" ref="linksrc=author_aff"> 9 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bi+W&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Weimin Bi">Weimin Bi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA." href="#short-view-affiliation-10" ref="linksrc=author_aff"> 10 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Massicotte+C&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Christine Massicotte">Christine Massicotte</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada." href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Miguet+M&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Marguerite Miguet">Marguerite Miguet</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada." href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Brunga+L&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Ledia Brunga">Ledia Brunga</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Program in Genetics and Genome Biology, Division of Neurology, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 0A4, Canada." href="#short-view-affiliation-11" ref="linksrc=author_aff"> 11 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Regan+BM&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Brigid M Regan">Brigid M Regan</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canada." href="#short-view-affiliation-12" ref="linksrc=author_aff"> 12 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Mo+K&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Kelly Mo">Kelly Mo</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canada." href="#short-view-affiliation-12" ref="linksrc=author_aff"> 12 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Tam+C&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Cory Tam">Cory Tam</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canada." href="#short-view-affiliation-12" ref="linksrc=author_aff"> 12 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Schneider+A&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Amy Schneider">Amy Schneider</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia." href="#short-view-affiliation-13" ref="linksrc=author_aff"> 13 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Hollingsworth+G&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Georgie Hollingsworth">Georgie Hollingsworth</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia." href="#short-view-affiliation-13" ref="linksrc=author_aff"> 13 </a></sup><span class="semicolon">; </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Deciphering+Developmental+Disorders+Study%5BCorporate+Author%5D" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Deciphering Developmental Disorders Study">Deciphering Developmental Disorders Study</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK." href="#short-view-affiliation-14" ref="linksrc=author_aff"> 14 </a></sup><span class="semicolon">; </span></span><span class="authors-list-item "><a class="full-name" href="/?term=FitzPatrick+DR&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="David R FitzPatrick">David R FitzPatrick</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK." href="#short-view-affiliation-15" ref="linksrc=author_aff"> 15 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Donaldson+A&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Alan Donaldson">Alan Donaldson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Clinical Genetics Service, University Hospitals Bristol NHS Foundation Trust, St. Michael's Hospital, St. Michael's Hill, Bristol BS2 8DT, UK." href="#short-view-affiliation-16" ref="linksrc=author_aff"> 16 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Canham+N&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Natalie Canham">Natalie Canham</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK." href="#short-view-affiliation-17" ref="linksrc=author_aff"> 17 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Blair+E&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Edward Blair">Edward Blair</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Oxford Centre for Genomic Medicine, ACE building Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK." href="#short-view-affiliation-18" ref="linksrc=author_aff"> 18 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Kerr+B&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Bronwyn Kerr">Bronwyn Kerr</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK." href="#short-view-affiliation-19" ref="linksrc=author_aff"> 19 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Fry+AE&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Andrew E Fry">Andrew E Fry</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK." href="#short-view-affiliation-20" ref="linksrc=author_aff"> 20 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Thomas+RH&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Rhys H Thomas">Rhys H Thomas</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="MRC Centre for Neuropsychiatric Genetics & Genomics, Hadyn Ellis Building, Cathays, Cardiff University, Cardiff CF24 4HQ, UK." href="#short-view-affiliation-21" ref="linksrc=author_aff"> 21 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Shelagh+J&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Joss Shelagh">Joss Shelagh</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK." href="#short-view-affiliation-22" ref="linksrc=author_aff"> 22 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Hurst+JA&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Jane A Hurst">Jane A Hurst</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London WC1N 3JH, UK." href="#short-view-affiliation-23" ref="linksrc=author_aff"> 23 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Brittain+H&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Helen Brittain">Helen Brittain</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London WC1N 3JH, UK." href="#short-view-affiliation-23" ref="linksrc=author_aff"> 23 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Blyth+M&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Moira Blyth">Moira Blyth</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds LS7 4SA, UK." href="#short-view-affiliation-24" ref="linksrc=author_aff"> 24 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Lebel+RR&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Robert Roger Lebel">Robert Roger Lebel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Section of Medical Genetics, SUNY Upstate Medical University, Syracuse, NY 13210, USA." href="#short-view-affiliation-25" ref="linksrc=author_aff"> 25 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Gerkes+EH&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Erica H Gerkes">Erica H Gerkes</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 RB Groningen, the Netherlands." href="#short-view-affiliation-26" ref="linksrc=author_aff"> 26 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Davis-Keppen+L&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Laura Davis-Keppen">Laura Davis-Keppen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of South Dakota Sanford School of Medicine, Sioux Falls, SD 57117, USA." href="#short-view-affiliation-27" ref="linksrc=author_aff"> 27 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Stein+Q&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Quinn Stein">Quinn Stein</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Augustana-Sanford Genetic Counseling Graduate Program, Sioux Falls, SD 57197, USA." href="#short-view-affiliation-28" ref="linksrc=author_aff"> 28 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Chung+WK&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Wendy K Chung">Wendy K Chung</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Departments of Medicine and Pediatrics, Columbia University Medical Center, New York, NY 10032, USA." href="#short-view-affiliation-29" ref="linksrc=author_aff"> 29 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Dorison+SJ&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Sara J Dorison">Sara J Dorison</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Baptist Hospital, Miami, FL 33176 USA." href="#short-view-affiliation-30" ref="linksrc=author_aff"> 30 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Benke+PJ&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Paul J Benke">Paul J Benke</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA." href="#short-view-affiliation-31" ref="linksrc=author_aff"> 31 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Fassi+E&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Emily Fassi">Emily Fassi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA." href="#short-view-affiliation-32" ref="linksrc=author_aff"> 32 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Corsten-Janssen+N&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Nicole Corsten-Janssen">Nicole Corsten-Janssen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 RB Groningen, the Netherlands." href="#short-view-affiliation-26" ref="linksrc=author_aff"> 26 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Kamsteeg+EJ&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Erik-Jan Kamsteeg">Erik-Jan Kamsteeg</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands." href="#short-view-affiliation-33" ref="linksrc=author_aff"> 33 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Mau-Them+FT&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Frederic T Mau-Them">Frederic T Mau-Them</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Génétique des Anomalies du Développement, Centre Hospitalier Universitaire de Dijon, 21000 Dijon, France; Équipe INSERM 1231, Génétique des Anomalies du Développement, Université de Bourgogne, 21000 Dijon, France." href="#short-view-affiliation-34" ref="linksrc=author_aff"> 34 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bruel+AL&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Ange-Line Bruel">Ange-Line Bruel</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre de Génétique des Anomalies du Développement, Centre Hospitalier Universitaire de Dijon, 21000 Dijon, France; Équipe INSERM 1231, Génétique des Anomalies du Développement, Université de Bourgogne, 21000 Dijon, France." href="#short-view-affiliation-34" ref="linksrc=author_aff"> 34 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Verloes+A&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Alain Verloes">Alain Verloes</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetics Department, Assistance Publique - Hôpitaux de Paris, Robert-Debré University Hospital, 75000 Paris, France." href="#short-view-affiliation-35" ref="linksrc=author_aff"> 35 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=%C3%95unap+K&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Katrin Õunap">Katrin Õunap</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu 51014, Estonia." href="#short-view-affiliation-36" ref="linksrc=author_aff"> 36 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Wojcik+MH&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Monica H Wojcik">Monica H Wojcik</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Genetics and Genomics and Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA." href="#short-view-affiliation-37" ref="linksrc=author_aff"> 37 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Albert+DVF&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Dara V F Albert">Dara V F Albert</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Nationwide Children's Hospital and Ohio State University, Department of Pediatrics, Division of Neurology, Columbus, OH 43205, USA." href="#short-view-affiliation-38" ref="linksrc=author_aff"> 38 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Venkateswaran+S&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Sunita Venkateswaran">Sunita Venkateswaran</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada." href="#short-view-affiliation-39" ref="linksrc=author_aff"> 39 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Ware+T&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Tyson Ware">Tyson Ware</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of Tasmania, Royal Hobart Hospital, Department of Paediatrics, Hobart, TAS 7000, Australia." href="#short-view-affiliation-40" ref="linksrc=author_aff"> 40 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Jones+D&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Dean Jones">Dean Jones</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="School of Medicine, University of Tasmania, Hobart, TAS 7000, Australia." href="#short-view-affiliation-41" ref="linksrc=author_aff"> 41 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Liu+YC&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Yu-Chi Liu">Yu-Chi Liu</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia." href="#short-view-affiliation-42" ref="linksrc=author_aff"> 42 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Mohammad+SS&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Shekeeb S Mohammad">Shekeeb S Mohammad</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Children's Hospital at Westmead Clinical School, University of Sydney, Westmead, NSW 2145, Australia." href="#short-view-affiliation-43" ref="linksrc=author_aff"> 43 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bizargity+P&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Peyman Bizargity">Peyman Bizargity</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA." href="#short-view-affiliation-9" ref="linksrc=author_aff"> 9 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bacino+CA&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Carlos A Bacino">Carlos A Bacino</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA." href="#short-view-affiliation-44" ref="linksrc=author_aff"> 44 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Leuzzi+V&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Vincenzo Leuzzi">Vincenzo Leuzzi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dipartimento di Pediatria e di Neuropsichiatria Infantile, Università La Sapienza, 00185 Rome, Italy." href="#short-view-affiliation-45" ref="linksrc=author_aff"> 45 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Martinelli+S&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Simone Martinelli">Simone Martinelli</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy." href="#short-view-affiliation-46" ref="linksrc=author_aff"> 46 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Dallapiccola+B&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Bruno Dallapiccola">Bruno Dallapiccola</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy." href="#short-view-affiliation-47" ref="linksrc=author_aff"> 47 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Tartaglia+M&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Marco Tartaglia">Marco Tartaglia</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy." href="#short-view-affiliation-47" ref="linksrc=author_aff"> 47 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Blumkin+L&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Lubov Blumkin">Lubov Blumkin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Metabolic Neurogenetic Clinic and Pediatric Movement Disorders Clinic, Wolfson Medical Center, Holon 5822012, Israel." href="#short-view-affiliation-48" ref="linksrc=author_aff"> 48 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Wierenga+KJ&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Klaas J Wierenga">Klaas J Wierenga</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA." href="#short-view-affiliation-49" ref="linksrc=author_aff"> 49 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Purcarin+G&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Gabriela Purcarin">Gabriela Purcarin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA." href="#short-view-affiliation-49" ref="linksrc=author_aff"> 49 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=O%27Byrne+JJ&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="James J O'Byrne">James J O'Byrne</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada." href="#short-view-affiliation-50" ref="linksrc=author_aff"> 50 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Stockler+S&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Sylvia Stockler">Sylvia Stockler</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="University of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada." href="#short-view-affiliation-50" ref="linksrc=author_aff"> 50 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Lehman+A&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Anna Lehman">Anna Lehman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada." href="#short-view-affiliation-51" ref="linksrc=author_aff"> 51 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Keren+B&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Boris Keren">Boris Keren</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe de Recherche Clinique "Déficiences Intellectuelles et Autisme," Université Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, Paris 75013, France; Sorbonne Universités, Université Pierre et Marie Curie (Université Paris 06), UMRS 1127, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle Épinière, Paris 75013, France." href="#short-view-affiliation-52" ref="linksrc=author_aff"> 52 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Nougues+MC&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Marie-Christine Nougues">Marie-Christine Nougues</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Assistance Publique - Hôpitaux de Paris, Hôpital d'Enfants Armand Trousseau, Service de Neuropédiatrie, Paris 75012, France." href="#short-view-affiliation-53" ref="linksrc=author_aff"> 53 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Mignot+C&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Cyril Mignot">Cyril Mignot</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe de Recherche Clinique "Déficiences Intellectuelles et Autisme," Université Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, Paris 75013, France; Sorbonne Universités, Université Pierre et Marie Curie (Université Paris 06), UMRS 1127, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle Épinière, Paris 75013, France." href="#short-view-affiliation-52" ref="linksrc=author_aff"> 52 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Auvin+S&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Stéphane Auvin">Stéphane Auvin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Université Paris Diderot, Sorbonne Paris Cité, INSERM UMR 1141, Paris 75019, France; Assistance Publique - Hôpitaux de Paris, Hôpital Robert Debré, Service de Neurologie Pédiatrique, Paris 75019, France." href="#short-view-affiliation-54" ref="linksrc=author_aff"> 54 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Nava+C&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Caroline Nava">Caroline Nava</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe de Recherche Clinique "Déficiences Intellectuelles et Autisme," Université Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, Paris 75013, France; Sorbonne Universités, Université Pierre et Marie Curie (Université Paris 06), UMRS 1127, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle Épinière, Paris 75013, France." href="#short-view-affiliation-52" ref="linksrc=author_aff"> 52 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Hiatt+SM&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Susan M Hiatt">Susan M Hiatt</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA." href="#short-view-affiliation-55" ref="linksrc=author_aff"> 55 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bebin+M&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Martina Bebin">Martina Bebin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USA." href="#short-view-affiliation-56" ref="linksrc=author_aff"> 56 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Shao+Y&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Yunru Shao">Yunru Shao</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA." href="#short-view-affiliation-9" ref="linksrc=author_aff"> 9 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Scaglia+F&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Fernando Scaglia">Fernando Scaglia</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA." href="#short-view-affiliation-9" ref="linksrc=author_aff"> 9 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Lalani+SR&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Seema R Lalani">Seema R Lalani</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA." href="#short-view-affiliation-9" ref="linksrc=author_aff"> 9 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Frye+RE&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Richard E Frye">Richard E Frye</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA; Arkansas Children's Research Institute, Little Rock, AR 72205, USA." href="#short-view-affiliation-57" ref="linksrc=author_aff"> 57 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Jarjour+IT&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Imad T Jarjour">Imad T Jarjour</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA." href="#short-view-affiliation-58" ref="linksrc=author_aff"> 58 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Jacques+S&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Stéphanie Jacques">Stéphanie Jacques</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Rouyn-Noranda, Rouyn-Noranda, QC J9X 2B2, Canada." href="#short-view-affiliation-59" ref="linksrc=author_aff"> 59 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Boucher+RM&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Renee-Myriam Boucher">Renee-Myriam Boucher</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Centre Hospitalier Universitaire de Québec, Quebec, QC G1V 4G2, Canada." href="#short-view-affiliation-60" ref="linksrc=author_aff"> 60 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Riou+E&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Emilie Riou">Emilie Riou</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada." href="#short-view-affiliation-61" ref="linksrc=author_aff"> 61 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Srour+M&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Myriam Srour">Myriam Srour</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, McGill University, Montreal, QC H3A 1A4, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 1A4, Canada." href="#short-view-affiliation-62" ref="linksrc=author_aff"> 62 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Carmant+L&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Lionel Carmant">Lionel Carmant</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada." href="#short-view-affiliation-63" ref="linksrc=author_aff"> 63 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Lortie+A&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Anne Lortie">Anne Lortie</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada." href="#short-view-affiliation-64" ref="linksrc=author_aff"> 64 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Major+P&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Philippe Major">Philippe Major</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada." href="#short-view-affiliation-64" ref="linksrc=author_aff"> 64 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Diadori+P&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Paola Diadori">Paola Diadori</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada." href="#short-view-affiliation-64" ref="linksrc=author_aff"> 64 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Dubeau+F&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="François Dubeau">François Dubeau</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada." href="#short-view-affiliation-4" ref="linksrc=author_aff"> 4 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=D%27Anjou+G&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Guy D'Anjou">Guy D'Anjou</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada." href="#short-view-affiliation-64" ref="linksrc=author_aff"> 64 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bourque+G&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Guillaume Bourque">Guillaume Bourque</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="McGill University and Genome Quebec Innovation Center, Montreal, QC H3A 1A4, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada." href="#short-view-affiliation-5" ref="linksrc=author_aff"> 5 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Berkovic+SF&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Samuel F Berkovic">Samuel F Berkovic</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia." href="#short-view-affiliation-13" ref="linksrc=author_aff"> 13 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Sadleir+LG&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Lynette G Sadleir">Lynette G Sadleir</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics and Child Health, University of Otago, Wellington 9016, New Zealand." href="#short-view-affiliation-65" ref="linksrc=author_aff"> 65 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Campeau+PM&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Philippe M Campeau">Philippe M Campeau</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada." href="#short-view-affiliation-66" ref="linksrc=author_aff"> 66 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Kibar+Z&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Zoha Kibar">Zoha Kibar</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada." href="#short-view-affiliation-67" ref="linksrc=author_aff"> 67 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Lafreni%C3%A8re+RG&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Ronald G Lafrenière">Ronald G Lafrenière</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada." href="#short-view-affiliation-7" ref="linksrc=author_aff"> 7 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Girard+SL&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Simon L Girard">Simon L Girard</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada; Département des Sciences Fondamentales, Université du Québec à Chicoutimi, Chicoutimi, QC G7H 2B1, Canada." href="#short-view-affiliation-68" ref="linksrc=author_aff"> 68 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Mercimek-Mahmutoglu+S&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Saadet Mercimek-Mahmutoglu">Saadet Mercimek-Mahmutoglu</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada." href="#short-view-affiliation-69" ref="linksrc=author_aff"> 69 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Boelman+C&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Cyrus Boelman">Cyrus Boelman</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada." href="#short-view-affiliation-70" ref="linksrc=author_aff"> 70 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Rouleau+GA&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Guy A Rouleau">Guy A Rouleau</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada." href="#short-view-affiliation-4" ref="linksrc=author_aff"> 4 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Scheffer+IE&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Ingrid E Scheffer">Ingrid E Scheffer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia; Department of Pediatrics, University of Melbourne Royal Children's Hospital, Parkville, VIC 3052, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084, Australia." href="#short-view-affiliation-71" ref="linksrc=author_aff"> 71 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Mefford+HC&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Heather C Mefford">Heather C Mefford</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA." href="#short-view-affiliation-2" ref="linksrc=author_aff"> 2 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Andrade+DM&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Danielle M Andrade">Danielle M Andrade</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canada." href="#short-view-affiliation-12" ref="linksrc=author_aff"> 12 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Rossignol+E&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Elsa Rossignol">Elsa Rossignol</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada." href="#short-view-affiliation-63" ref="linksrc=author_aff"> 63 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Minassian+BA&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Berge A Minassian">Berge A Minassian</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Program in Genetics and Genome Biology, Division of Neurology, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 0A4, Canada; Division of Child Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX 75390, USA. Electronic address: berge.minassian@sickkids.ca." href="#short-view-affiliation-72" ref="linksrc=author_aff"> 72 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Michaud+JL&cauthor_id=29100083" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Jacques L Michaud">Jacques L Michaud</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address: jacques.michaud@recherche-ste-justine.qc.ca." href="#short-view-affiliation-73" ref="linksrc=author_aff"> 73 </a></sup></span> </div> </div> <div class="affiliations"> <h3 class="title"> Affiliations </h3> <ul class="item-list"> <li data-affiliation-id="short-view-affiliation-1" id="short-view-affiliation-1" ><sup class="key">1</sup> Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada.</li> <li data-affiliation-id="short-view-affiliation-2" id="short-view-affiliation-2" ><sup class="key">2</sup> Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.</li> <li data-affiliation-id="short-view-affiliation-3" id="short-view-affiliation-3" ><sup class="key">3</sup> Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada.</li> <li data-affiliation-id="short-view-affiliation-4" id="short-view-affiliation-4" ><sup class="key">4</sup> Montreal Neurological Institute, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A2B4, Canada.</li> <li data-affiliation-id="short-view-affiliation-5" id="short-view-affiliation-5" ><sup class="key">5</sup> McGill University and Genome Quebec Innovation Center, Montreal, QC H3A 1A4, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada.</li> <li data-affiliation-id="short-view-affiliation-6" id="short-view-affiliation-6" ><sup class="key">6</sup> Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada; Center for Pediatric Genomic Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO 64108, USA.</li> <li data-affiliation-id="short-view-affiliation-7" id="short-view-affiliation-7" ><sup class="key">7</sup> Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada.</li> <li data-affiliation-id="short-view-affiliation-8" id="short-view-affiliation-8" ><sup class="key">8</sup> GeneDx, Gaithersburg, MD 20877, USA.</li> <li data-affiliation-id="short-view-affiliation-9" id="short-view-affiliation-9" ><sup class="key">9</sup> Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</li> <li data-affiliation-id="short-view-affiliation-10" id="short-view-affiliation-10" ><sup class="key">10</sup> Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Baylor College of Medicine, Houston, TX 77021, USA.</li> <li data-affiliation-id="short-view-affiliation-11" id="short-view-affiliation-11" ><sup class="key">11</sup> Program in Genetics and Genome Biology, Division of Neurology, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 0A4, Canada.</li> <li data-affiliation-id="short-view-affiliation-12" id="short-view-affiliation-12" ><sup class="key">12</sup> Division of Neurology, Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, ON M5G 2C4, Canada.</li> <li data-affiliation-id="short-view-affiliation-13" id="short-view-affiliation-13" ><sup class="key">13</sup> Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.</li> <li data-affiliation-id="short-view-affiliation-14" id="short-view-affiliation-14" ><sup class="key">14</sup> Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.</li> <li data-affiliation-id="short-view-affiliation-15" id="short-view-affiliation-15" ><sup class="key">15</sup> MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.</li> <li data-affiliation-id="short-view-affiliation-16" id="short-view-affiliation-16" ><sup class="key">16</sup> Clinical Genetics Service, University Hospitals Bristol NHS Foundation Trust, St. Michael's Hospital, St. Michael's Hill, Bristol BS2 8DT, UK.</li> <li data-affiliation-id="short-view-affiliation-17" id="short-view-affiliation-17" ><sup class="key">17</sup> North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK.</li> <li data-affiliation-id="short-view-affiliation-18" id="short-view-affiliation-18" ><sup class="key">18</sup> Oxford Centre for Genomic Medicine, ACE building Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK.</li> <li data-affiliation-id="short-view-affiliation-19" id="short-view-affiliation-19" ><sup class="key">19</sup> Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester M13 9WL, UK.</li> <li data-affiliation-id="short-view-affiliation-20" id="short-view-affiliation-20" ><sup class="key">20</sup> Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK.</li> <li data-affiliation-id="short-view-affiliation-21" id="short-view-affiliation-21" ><sup class="key">21</sup> MRC Centre for Neuropsychiatric Genetics & Genomics, Hadyn Ellis Building, Cathays, Cardiff University, Cardiff CF24 4HQ, UK.</li> <li data-affiliation-id="short-view-affiliation-22" id="short-view-affiliation-22" ><sup class="key">22</sup> West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.</li> <li data-affiliation-id="short-view-affiliation-23" id="short-view-affiliation-23" ><sup class="key">23</sup> North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.</li> <li data-affiliation-id="short-view-affiliation-24" id="short-view-affiliation-24" ><sup class="key">24</sup> Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds LS7 4SA, UK.</li> <li data-affiliation-id="short-view-affiliation-25" id="short-view-affiliation-25" ><sup class="key">25</sup> Department of Pediatrics, Section of Medical Genetics, SUNY Upstate Medical University, Syracuse, NY 13210, USA.</li> <li data-affiliation-id="short-view-affiliation-26" id="short-view-affiliation-26" ><sup class="key">26</sup> University of Groningen, University Medical Center Groningen, Department of Genetics, 9700 RB Groningen, the Netherlands.</li> <li data-affiliation-id="short-view-affiliation-27" id="short-view-affiliation-27" ><sup class="key">27</sup> University of South Dakota Sanford School of Medicine, Sioux Falls, SD 57117, USA.</li> <li data-affiliation-id="short-view-affiliation-28" id="short-view-affiliation-28" ><sup class="key">28</sup> Augustana-Sanford Genetic Counseling Graduate Program, Sioux Falls, SD 57197, USA.</li> <li data-affiliation-id="short-view-affiliation-29" id="short-view-affiliation-29" ><sup class="key">29</sup> Departments of Medicine and Pediatrics, Columbia University Medical Center, New York, NY 10032, USA.</li> <li data-affiliation-id="short-view-affiliation-30" id="short-view-affiliation-30" ><sup class="key">30</sup> Baptist Hospital, Miami, FL 33176 USA.</li> <li data-affiliation-id="short-view-affiliation-31" id="short-view-affiliation-31" ><sup class="key">31</sup> Joe DiMaggio Children's Hospital, Hollywood, FL 33021, USA.</li> <li data-affiliation-id="short-view-affiliation-32" id="short-view-affiliation-32" ><sup class="key">32</sup> Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.</li> <li data-affiliation-id="short-view-affiliation-33" id="short-view-affiliation-33" ><sup class="key">33</sup> Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</li> <li data-affiliation-id="short-view-affiliation-34" id="short-view-affiliation-34" ><sup class="key">34</sup> Centre de Génétique des Anomalies du Développement, Centre Hospitalier Universitaire de Dijon, 21000 Dijon, France; Équipe INSERM 1231, Génétique des Anomalies du Développement, Université de Bourgogne, 21000 Dijon, France.</li> <li data-affiliation-id="short-view-affiliation-35" id="short-view-affiliation-35" ><sup class="key">35</sup> Genetics Department, Assistance Publique - Hôpitaux de Paris, Robert-Debré University Hospital, 75000 Paris, France.</li> <li data-affiliation-id="short-view-affiliation-36" id="short-view-affiliation-36" ><sup class="key">36</sup> Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, Tartu 51014, Estonia.</li> <li data-affiliation-id="short-view-affiliation-37" id="short-view-affiliation-37" ><sup class="key">37</sup> Division of Genetics and Genomics and Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.</li> <li data-affiliation-id="short-view-affiliation-38" id="short-view-affiliation-38" ><sup class="key">38</sup> Nationwide Children's Hospital and Ohio State University, Department of Pediatrics, Division of Neurology, Columbus, OH 43205, USA.</li> <li data-affiliation-id="short-view-affiliation-39" id="short-view-affiliation-39" ><sup class="key">39</sup> Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.</li> <li data-affiliation-id="short-view-affiliation-40" id="short-view-affiliation-40" ><sup class="key">40</sup> University of Tasmania, Royal Hobart Hospital, Department of Paediatrics, Hobart, TAS 7000, Australia.</li> <li data-affiliation-id="short-view-affiliation-41" id="short-view-affiliation-41" ><sup class="key">41</sup> School of Medicine, University of Tasmania, Hobart, TAS 7000, Australia.</li> <li data-affiliation-id="short-view-affiliation-42" id="short-view-affiliation-42" ><sup class="key">42</sup> Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.</li> <li data-affiliation-id="short-view-affiliation-43" id="short-view-affiliation-43" ><sup class="key">43</sup> Children's Hospital at Westmead Clinical School, University of Sydney, Westmead, NSW 2145, Australia.</li> <li data-affiliation-id="short-view-affiliation-44" id="short-view-affiliation-44" ><sup class="key">44</sup> Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.</li> <li data-affiliation-id="short-view-affiliation-45" id="short-view-affiliation-45" ><sup class="key">45</sup> Dipartimento di Pediatria e di Neuropsichiatria Infantile, Università La Sapienza, 00185 Rome, Italy.</li> <li data-affiliation-id="short-view-affiliation-46" id="short-view-affiliation-46" ><sup class="key">46</sup> Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, 00161 Rome, Italy.</li> <li data-affiliation-id="short-view-affiliation-47" id="short-view-affiliation-47" ><sup class="key">47</sup> Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy.</li> <li data-affiliation-id="short-view-affiliation-48" id="short-view-affiliation-48" ><sup class="key">48</sup> Metabolic Neurogenetic Clinic and Pediatric Movement Disorders Clinic, Wolfson Medical Center, Holon 5822012, Israel.</li> <li data-affiliation-id="short-view-affiliation-49" id="short-view-affiliation-49" ><sup class="key">49</sup> University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.</li> <li data-affiliation-id="short-view-affiliation-50" id="short-view-affiliation-50" ><sup class="key">50</sup> University of British Columbia, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada.</li> <li data-affiliation-id="short-view-affiliation-51" id="short-view-affiliation-51" ><sup class="key">51</sup> Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.</li> <li data-affiliation-id="short-view-affiliation-52" id="short-view-affiliation-52" ><sup class="key">52</sup> Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe de Recherche Clinique "Déficiences Intellectuelles et Autisme," Université Pierre et Marie Curie, Hôpital de la Pitié-Salpêtrière, Paris 75013, France; Sorbonne Universités, Université Pierre et Marie Curie (Université Paris 06), UMRS 1127, INSERM U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle Épinière, Paris 75013, France.</li> <li data-affiliation-id="short-view-affiliation-53" id="short-view-affiliation-53" ><sup class="key">53</sup> Assistance Publique - Hôpitaux de Paris, Hôpital d'Enfants Armand Trousseau, Service de Neuropédiatrie, Paris 75012, France.</li> <li data-affiliation-id="short-view-affiliation-54" id="short-view-affiliation-54" ><sup class="key">54</sup> Université Paris Diderot, Sorbonne Paris Cité, INSERM UMR 1141, Paris 75019, France; Assistance Publique - Hôpitaux de Paris, Hôpital Robert Debré, Service de Neurologie Pédiatrique, Paris 75019, France.</li> <li data-affiliation-id="short-view-affiliation-55" id="short-view-affiliation-55" ><sup class="key">55</sup> HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA.</li> <li data-affiliation-id="short-view-affiliation-56" id="short-view-affiliation-56" ><sup class="key">56</sup> Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.</li> <li data-affiliation-id="short-view-affiliation-57" id="short-view-affiliation-57" ><sup class="key">57</sup> Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA; Arkansas Children's Research Institute, Little Rock, AR 72205, USA.</li> <li data-affiliation-id="short-view-affiliation-58" id="short-view-affiliation-58" ><sup class="key">58</sup> Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA.</li> <li data-affiliation-id="short-view-affiliation-59" id="short-view-affiliation-59" ><sup class="key">59</sup> Centre Hospitalier Rouyn-Noranda, Rouyn-Noranda, QC J9X 2B2, Canada.</li> <li data-affiliation-id="short-view-affiliation-60" id="short-view-affiliation-60" ><sup class="key">60</sup> Division of Neurology, Centre Hospitalier Universitaire de Québec, Quebec, QC G1V 4G2, Canada.</li> <li data-affiliation-id="short-view-affiliation-61" id="short-view-affiliation-61" ><sup class="key">61</sup> Department of Pediatrics, Centre Hospitalier Universitaire de Sherbrooke, Université de Sherbrooke, Sherbrooke, QC J1H 5N4, Canada.</li> <li data-affiliation-id="short-view-affiliation-62" id="short-view-affiliation-62" ><sup class="key">62</sup> Department of Pediatrics, McGill University, Montreal, QC H3A 1A4, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 1A4, Canada.</li> <li data-affiliation-id="short-view-affiliation-63" id="short-view-affiliation-63" ><sup class="key">63</sup> Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada.</li> <li data-affiliation-id="short-view-affiliation-64" id="short-view-affiliation-64" ><sup class="key">64</sup> Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada.</li> <li data-affiliation-id="short-view-affiliation-65" id="short-view-affiliation-65" ><sup class="key">65</sup> Department of Pediatrics and Child Health, University of Otago, Wellington 9016, New Zealand.</li> <li data-affiliation-id="short-view-affiliation-66" id="short-view-affiliation-66" ><sup class="key">66</sup> Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada.</li> <li data-affiliation-id="short-view-affiliation-67" id="short-view-affiliation-67" ><sup class="key">67</sup> Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada.</li> <li data-affiliation-id="short-view-affiliation-68" id="short-view-affiliation-68" ><sup class="key">68</sup> Centre Hospitalier de l'Université de Montréal Research Center, Montreal, QC H2X 0A9, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 1B1, Canada; Département des Sciences Fondamentales, Université du Québec à Chicoutimi, Chicoutimi, QC G7H 2B1, Canada.</li> <li data-affiliation-id="short-view-affiliation-69" id="short-view-affiliation-69" ><sup class="key">69</sup> Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.</li> <li data-affiliation-id="short-view-affiliation-70" id="short-view-affiliation-70" ><sup class="key">70</sup> Division of Neurology, BC Children's Hospital, Vancouver, BC V6H 3N1, Canada.</li> <li data-affiliation-id="short-view-affiliation-71" id="short-view-affiliation-71" ><sup class="key">71</sup> Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia; Department of Pediatrics, University of Melbourne Royal Children's Hospital, Parkville, VIC 3052, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084, Australia.</li> <li data-affiliation-id="short-view-affiliation-72" id="short-view-affiliation-72" ><sup class="key">72</sup> Program in Genetics and Genome Biology, Division of Neurology, Department of Pediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 0A4, Canada; Division of Child Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX 75390, USA. Electronic address: berge.minassian@sickkids.ca.</li> <li data-affiliation-id="short-view-affiliation-73" id="short-view-affiliation-73" ><sup class="key">73</sup> Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address: jacques.michaud@recherche-ste-justine.qc.ca.</li> </ul> </div> </div> <ul class="identifiers" id="short-view-identifiers"> <li> <span class="identifier pubmed"> <span class="id-label"> PMID: </span> <strong class="current-id" title="PubMed ID">29100083</strong> </span> </li> <li> <span class="identifier pmc"> <span class="id-label"> PMCID: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&article_id=PMC5673604&id_type=PMC" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC5673604/" data-ga-category="full_text" data-ga-action="PMCID" > PMC5673604 </a> </span> </li> <li> <span class="identifier doi"> <span class="id-label"> DOI: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&article_id=10.1016/j.ajhg.2017.09.008&id_type=DOI" href="https://doi.org/10.1016/j.ajhg.2017.09.008" data-ga-category="full_text" data-ga-action="DOI" > 10.1016/j.ajhg.2017.09.008 </a> </span> </li> </ul> <div class="in-clipboard-label " hidden> Item in Clipboard </div> </div> </div> </header> <div class="actions-buttons inline"><div class="inner-wrap"><button class="full-text-links-button full-text-links-dialog-trigger" title="Open dialog with full text links" ref="linksrc=full_text_links"> Full text links </button><button class="citation-button citation-dialog-trigger" aria-label="Open dialog with citation text in different styles" data-ga-category="save_share" data-ga-action="cite" data-ga-label="open" data-all-citations-url="/29100083/citations/" data-citation-style="nlm" data-pubmed-format-link="/29100083/export/"><span class="button-label">Cite</span></button><button class="more-actions-button more-actions-dialog-trigger" title="Open dialog with more actions to take" ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format" data-default-format-value="abstract" data-current-format-value="abstract" role="region"><button class="trigger usa-button" title="Change format" data-ga-category="display_options" data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title"> Display options </div><div class="content"><div class="format-container"><span class="option-label"> Format </span><select name="format" data-initial-value="abstract" aria-label="Display format" id="inline-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div> <div class="abstract" id="abstract"> <h2 class="title"> Abstract </h2> <div class="abstract-content selected" id="eng-abstract"> <p> Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental plateauing or regression associated with frequent epileptiform activity. The cause of DEE remains unknown in the majority of cases. We performed whole-genome sequencing (WGS) in 197 individuals with unexplained DEE and pharmaco-resistant seizures and in their unaffected parents. We focused our attention on de novo mutations (DNMs) and identified candidate genes containing such variants. We sought to identify additional subjects with DNMs in these genes by performing targeted sequencing in another series of individuals with DEE and by mining various sequencing datasets. We also performed meta-analyses to document enrichment of DNMs in candidate genes by leveraging our WGS dataset with those of several DEE and ID series. By combining these strategies, we were able to provide a causal link between DEE and the following genes: NTRK2, GABRB2, CLTC, DHDDS, NUS1, RAB11A, GABBR2, and SNAP25. Overall, we established a molecular diagnosis in 63/197 (32%) individuals in our WGS series. The main cause of DEE in these individuals was de novo point mutations (53/63 solved cases), followed by inherited mutations (6/63 solved cases) and de novo CNVs (4/63 solved cases). De novo missense variants explained a larger proportion of individuals in our series than in other series that were primarily ascertained because of ID. Moreover, these DNMs were more frequently recurrent than those identified in ID series. These observations indicate that the genetic landscape of DEE might be different from that of ID without epilepsy. </p> </div> <p> <strong class="sub-title"> Keywords: </strong> CLTC; DHDDS; GABBR2; GABRB2; NTRK2; NUS1; RAB11; SNAP25; epileptic encephalopathy. </p> </div> <p class="copyright" id="copyright"> Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. </p> <p class="disclaimer" id="disclaimer"> <a href="/disclaimer/" target="_blank" ga_category="literature_resources" ga_action="disclaimer_link" ga_label="under_abstract">PubMed Disclaimer</a> </p> <div class="figures" id="figures"> <h2 class="title"> Figures </h2> <div class="figures-list" id="slides-container" itemscope itemtype="http://schema.org/ImageGallery"> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="0" data-label-slug="figure-1"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa22/5673604/3b19d0414a14/gr1.jpg" itemprop="contentUrl" aria-describedby="figure-caption-0" role="button" data-image-width="726" data-image-height="882" data-image-alt="Figure 1" data-pmc-id="PMC5673604" data-figure-id="fig1"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-0" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aa22/5673604/14de8c7ce07d/gr1.gif" alt="Figure 1" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="726"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="882"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 1 </p> </strong> <div class="figure-caption-contents"><p> Localization of <i> De Novo </i> Variants… </p></div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 1 </p> </strong> <div class="figure-caption-contents"><p> Localization of <i> De Novo </i> Variants in Protein Domains Encoded by Genes of Interest… </p></div> </div> <figcaption id="figure-caption-0" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 1 </strong> <div class="figure-caption-contents">Localization of <i>De Novo</i> Variants in Protein Domains Encoded by Genes of Interest GABRB2 (A), CLTC (B), NUS1 (C), NTRK2 (D), and DHDDS, SNAP25, GABBR2, and RAB11A (E). Recurrent <i>de novo</i> variants are in italics and red font. The transmembrane domains of GABRB2 and GABBR2 are labeled 1–4 and 1–7, respectively. Abbreviations are as follows: TM, transmembrane domain; TD, trimerization domain; SP, signal peptide; LRRNT, leucine-rich repeat N-terminal domain; LRR, leucine-rich repeat; LRRCT, leucine-rich repeat C-terminal domain; IGC2, immunoglobulin C-2 type 1 domain; IGC2-2, immunoglobulin C-2 type 2 domain; Shc, SHC1 interaction domain; IPP, isopentenyl diphosphate binding site; CD, catalytic domain; FPP, farnesyl diphosphate binding site; SW, switch domain; and CC, prenylation residue.</div> </figcaption> </figure> </div>  <div class="pswp figures-dialog" id="figures-dialog" tabindex="-1" role="dialog" aria-hidden="true" data-image-gallery-uid="article-figures" aria-label="Figures Dialog">  <div class="pswp__bg"></div>  <div class="pswp__scroll-wrap">  <div class="pswp__container"> <div class="pswp__item"></div> <div class="pswp__item"></div> <div class="pswp__item"></div> </div>  <div class="pswp__ui pswp__ui--hidden"> <div class="pswp__top-bar">  <div class="pswp__counter"></div> <button class="pswp__button pswp__button--close" title="Close (Esc)"></button> <button class="pswp__button pswp__button--share" title="Share"></button> <button class="pswp__button pswp__button--fs" title="Toggle fullscreen"></button> <button class="pswp__button pswp__button--zoom" title="Zoom in/out"></button>   <div class="pswp__preloader"> <div class="pswp__preloader__icn"> <div class="pswp__preloader__cut"> <div class="pswp__preloader__donut"></div> </div> </div> </div> </div> <div class="pswp__share-modal pswp__share-modal--hidden pswp__single-tap"> <div class="pswp__share-tooltip"></div> </div> <button class="pswp__button pswp__button--arrow--left" title="Previous (arrow left)"> </button> <button class="pswp__button pswp__button--arrow--right" title="Next (arrow right)"> </button> <div class="pswp__caption"> <div class="pswp__caption__center"></div> </div> </div> </div> </div> <div class="figure-dialog-caption"> <div class="figure-caption-link-container"> <a class="figure-caption-link" href="#">See this image and copyright information in PMC</a> </div> <div class="figure-caption-center" data-expand-title="click to show full caption" data-collapse-title="click to hide full caption"> </div> <button class="figure-caption-toggle-btn" aria-label="show full caption" data-expand-text="show full caption" data-collapse-text="hide full caption">  </button> </div> </div> <div class="linked-articles" id="linked-commentary"> <h2 class="title"> Comment in </h2> <ul class="item-list usa-unstyled-list"> <li class="full-docsum"> <div class="docsum-content" style="display:inline;"> <a class="docsum-title" href="/29671845/" ref="article_id=29671845&linksrc=comments_link" data-ga-category="comment_correction" data-ga-action="abstract_page_link" data-ga-label="linked-commentary"> Alphabet Soup: Recurrent De Novo Mutations in Novel Genes Causing Developmental and Epileptic Encephalopathies. </a> <div class="docsum-citation full-citation"> <span class="docsum-authors full-authors">Misra SN, Kearney JA.</span> <span class="docsum-authors short-authors">Misra SN, et al.</span> <span class="docsum-journal-citation full-journal-citation">Epilepsy Curr. 2018 Mar-Apr;18(2):125-127. doi: 10.5698/1535-7597.18.2.125.</span> <span class="docsum-journal-citation short-journal-citation">Epilepsy Curr. 2018.</span> <span class="citation-part">PMID: <span class="docsum-pmid">29671845</span></span> <span class="free-resources spaced-citation-item citation-part">Free PMC article.</span> <span class="no-abstract spaced-citation-item citation-part">No abstract available.</span> </div> </div> </li> </ul> </div> <div class="similar-articles" id="similar"> <h2 class="title"> Similar articles </h2> <ul class="articles-list" id="similar-articles-list"> <li class="full-docsum"> <div class="docsum-content" style="display:inline;"> <a class="docsum-title" href="/34448338/" ref="article_id=34448338&linksrc=similar_articles_link&ordinalpos=1" data-ga-category="similar_article" data-ga-action="34448338" data-ga-label=""> A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy. </a> <div class="docsum-citation full-citation"> <span class="docsum-authors full-authors">Rydzanicz M, Zwoliński P, Gasperowicz P, Pollak A, Kostrzewa G, Walczak A, Konarzewska M, Płoski R.</span> <span class="docsum-authors short-authors">Rydzanicz M, et al.</span> <span class="docsum-journal-citation full-journal-citation">Am J Med Genet A. 2021 Nov;185(11):3384-3389. doi: 10.1002/ajmg.a.62455. 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</a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Child" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Child"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Child"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Child"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Child, Preschool" tabindex="0" aria-controls="keyword-actions-mesh-terms-2" aria-expanded="false" data-pinger-ignore> Child, Preschool </button><div id="keyword-actions-mesh-terms-2" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Child, Preschool"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Child%2C+Preschool%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Child%2C+Preschool%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Child, Preschool"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Child, Preschool"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Child%2C+Preschool" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Child, Preschool"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Child, Preschool"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Child, Preschool"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major" aria-label="Toggle dropdown menu for keyword Epilepsy / genetics*" tabindex="0" aria-controls="keyword-actions-mesh-terms-major-3" aria-expanded="false" data-pinger-ignore> Epilepsy / genetics* </button><div id="keyword-actions-mesh-terms-major-3" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Epilepsy / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Epilepsy%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc" data-href="/?term=%22Epilepsy%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Epilepsy/genetics"[MAJR]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Epilepsy / genetics*"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Epilepsy" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Epilepsy / genetics*"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Epilepsy/genetics"[MAJR]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Epilepsy/genetics"[MAJR]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Female" tabindex="0" aria-controls="keyword-actions-mesh-terms-4" aria-expanded="false" data-pinger-ignore> Female </button><div id="keyword-actions-mesh-terms-4" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Female"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Female"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Female"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Female" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Female"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Female"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Female"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Genome, Human / genetics" tabindex="0" aria-controls="keyword-actions-mesh-terms-5" aria-expanded="false" data-pinger-ignore> Genome, Human / genetics </button><div id="keyword-actions-mesh-terms-5" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Genome, Human / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Genome%2C+Human%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Genome%2C+Human%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Genome, Human/genetics"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Genome, Human / genetics"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Genome%2C+Human" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Genome, Human / genetics"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Genome, Human/genetics"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Genome, Human/genetics"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Genome-Wide Association Study / methods" tabindex="0" aria-controls="keyword-actions-mesh-terms-6" aria-expanded="false" data-pinger-ignore> Genome-Wide Association Study / methods </button><div id="keyword-actions-mesh-terms-6" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Genome-Wide Association Study / methods"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Genome-Wide+Association+Study%2Fmethods%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Genome-Wide+Association+Study%2Fmethods%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Genome-Wide Association Study/methods"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Genome-Wide Association Study / methods"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Genome-Wide+Association+Study" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Genome-Wide Association Study / methods"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Genome-Wide Association Study/methods"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Genome-Wide Association Study/methods"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Humans" tabindex="0" aria-controls="keyword-actions-mesh-terms-7" aria-expanded="false" data-pinger-ignore> Humans </button><div id="keyword-actions-mesh-terms-7" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Humans"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Humans"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Humans"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Humans" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Humans"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Humans"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Humans"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Intellectual Disability / genetics" tabindex="0" aria-controls="keyword-actions-mesh-terms-8" aria-expanded="false" data-pinger-ignore> Intellectual Disability / genetics </button><div id="keyword-actions-mesh-terms-8" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Intellectual Disability / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Intellectual+Disability%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Intellectual+Disability%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Intellectual Disability/genetics"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Intellectual Disability / genetics"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Intellectual+Disability" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Intellectual Disability / genetics"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Intellectual Disability/genetics"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Intellectual Disability/genetics"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Male" tabindex="0" aria-controls="keyword-actions-mesh-terms-9" aria-expanded="false" data-pinger-ignore> Male </button><div id="keyword-actions-mesh-terms-9" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Male"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Male"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Male"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Male" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Male"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Male"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Male"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major" aria-label="Toggle dropdown menu for keyword Mutation / genetics*" tabindex="0" aria-controls="keyword-actions-mesh-terms-major-10" aria-expanded="false" data-pinger-ignore> Mutation / genetics* </button><div id="keyword-actions-mesh-terms-major-10" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Mutation / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Mutation%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc" data-href="/?term=%22Mutation%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Mutation/genetics"[MAJR]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Mutation / genetics*"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Mutation" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Mutation / genetics*"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Mutation/genetics"[MAJR]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Mutation/genetics"[MAJR]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Recurrence" tabindex="0" aria-controls="keyword-actions-mesh-terms-11" aria-expanded="false" data-pinger-ignore> Recurrence </button><div id="keyword-actions-mesh-terms-11" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Recurrence"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Recurrence%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Recurrence%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Recurrence"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Recurrence"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Recurrence" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Recurrence"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Recurrence"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Recurrence"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Seizures / genetics" tabindex="0" aria-controls="keyword-actions-mesh-terms-12" aria-expanded="false" data-pinger-ignore> Seizures / genetics </button><div id="keyword-actions-mesh-terms-12" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Seizures / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Seizures%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Seizures%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Seizures/genetics"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Seizures / genetics"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Seizures" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Seizures / genetics"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Seizures/genetics"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Seizures/genetics"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li></ul> </div> <div id="related-links" class="related-links"> <h2 class="title"> Related information </h2> <ul class="related-links-list"><li><a title="PubMed links associated with Books" href="https://www.ncbi.nlm.nih.gov/books?linkname=pubmed_books_refs&from_uid=29100083" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=29100083&ordinalpos=1&linkpos=1"> Cited in Books </a></li><li><a title="Clinical variations associated with publication" href="https://www.ncbi.nlm.nih.gov/clinvar?linkname=pubmed_clinvar&from_uid=29100083" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=29100083&ordinalpos=1&linkpos=2"> ClinVar </a></li><li><a title="Link to related Genes" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene&from_uid=29100083" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=29100083&ordinalpos=1&linkpos=3"> Gene </a></li><li><a title="Related information in MedGen" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen&from_uid=29100083" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=29100083&ordinalpos=1&linkpos=4"> MedGen </a></li><li><a title="Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen_bookshelf_cited&from_uid=29100083" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=29100083&ordinalpos=1&linkpos=5"> MedGen (Bookshelf cited) </a></li><li><a title="OMIM (cited) Links" href="https://www.ncbi.nlm.nih.gov/omim?linkname=pubmed_omim_cited&from_uid=29100083" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=29100083&ordinalpos=1&linkpos=6"> OMIM (cited) </a></li><li><a title="Published protein sequences" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein&from_uid=29100083" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=29100083&ordinalpos=1&linkpos=7"> Protein </a></li><li><a title="Link to Protein RefSeqs" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein_refseq&from_uid=29100083" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=29100083&ordinalpos=1&linkpos=8"> Protein (RefSeq) </a></li><li><a title="Link from PubMed to dbVar" href="https://www.ncbi.nlm.nih.gov/dbvar?linkname=pubmed_dbvar&from_uid=29100083" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=29100083&ordinalpos=1&linkpos=9"> dbVar </a></li></ul> </div> <div id="grants" class="grants"> <h2 class="title"> Grants and funding </h2> <div 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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies - PubMed