Novel SCN3A variants associated with focal epilepsy in children

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More than 800 mutations in genes encoding neuronal NaV channels including SCN1A and SCN2A have been associated with human epilepsy. Only one epilepsy-associated mutation has been identifi …"><meta name="keywords" content="pmid:24157691, PMC3877720, doi:10.1016/j.nbd.2013.10.015, Research Support, N.I.H., Extramural, Carlos G Vanoye, Christina A Gurnett, Jennifer A Kearney, Cells, Cultured, Child, Child, Preschool, Epilepsies, Partial / genetics*, Epilepsies, Partial / physiopathology, Female, Genetic Testing, HEK293 Cells, Humans, Male, Mutation, Missense*, NAV1.3 Voltage-Gated Sodium Channel / genetics*, NAV1.3 Voltage-Gated Sodium Channel / physiology, Sodium Channels / genetics*, Sodium Channels / physiology, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="Novel SCN3A variants associated with focal epilepsy in children - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/24157691/"><meta property="og:description" content="Voltage-gated sodium (NaV) channels are essential for initiating and propagating action potentials in the brain. More than 800 mutations in genes encoding neuronal NaV channels including SCN1A and SCN2A have been associated with human epilepsy. Only one epilepsy-associated mutation has been identifi …"><meta property="og:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:image:secure_url" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:type" content="website"><meta property="og:site_name" content="PubMed"><meta name="twitter:domain" content="pubmed.ncbi.nlm.nih.gov"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:title" content="Novel SCN3A variants associated with focal epilepsy in children - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/24157691/"><meta name="twitter:description" content="Voltage-gated sodium (NaV) channels are essential for initiating and propagating action potentials in the brain. More than 800 mutations in genes encoding neuronal NaV channels including SCN1A and SCN2A have been associated with human epilepsy. Only one epilepsy-associated mutation has been identifi …"><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">  <link rel="search" type="application/opensearchdescription+xml" href="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/opensearch.xml" title="PubMed search">  <noscript> <link rel="stylesheet" type="text/css" href="https://cdn.ncbi.nlm.nih.gov/pubmed/0d576970-ea4f-4f8d-9bab-bf51569c42d2/core/no-script.css"> </noscript> <meta name="citation_title" content="Novel SCN3A variants associated with focal epilepsy in children"> <meta name="citation_authors" content="Vanoye CG;Gurnett CA;Holland KD;George AL;Kearney JA;"> <meta name="citation_date" content="2014 Feb"> <meta name="citation_publisher" content="Neurobiol Dis"> <meta name="citation_journal_title" content="Neurobiology of disease"> <meta name="citation_pmid" content="24157691"> <meta name="citation_abstract_html_url" content="https://pubmed.ncbi.nlm.nih.gov/24157691/"> <meta name="citation_volume" content="62"> <meta name="citation_doi" content="10.1016/j.nbd.2013.10.015"> <meta name="citation_issn" content="1095-953X"> <link rel="canonical" href="https://pubmed.ncbi.nlm.nih.gov/24157691/" /> </head> <body > <noscript> <div class="no-script-banner" id="no-script-banner"> <div class="warning-message"> <div class="warning-message-text"> This site needs JavaScript to work properly. 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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="VqwFQeHB3bWPPPEVkNtEwaSwO8eeJtXLWlg2xI5TnE9LXQoQjXE8Ap90q7mZKY9P"> <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="VqwFQeHB3bWPPPEVkNtEwaSwO8eeJtXLWlg2xI5TnE9LXQoQjXE8Ap90q7mZKY9P"> <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="VqwFQeHB3bWPPPEVkNtEwaSwO8eeJtXLWlg2xI5TnE9LXQoQjXE8Ap90q7mZKY9P"> <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="VqwFQeHB3bWPPPEVkNtEwaSwO8eeJtXLWlg2xI5TnE9LXQoQjXE8Ap90q7mZKY9P"> <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="24157691"> <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" 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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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Vanderbilt University, Nashville, TN, USA." 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=Gurnett+CA&cauthor_id=24157691" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Christina A Gurnett">Christina A Gurnett</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, Washington University School of Medicine, St. Louis, MO, 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=Holland+KD&cauthor_id=24157691" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Katherine D Holland">Katherine D Holland</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA." 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=George+AL+Jr&cauthor_id=24157691" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Alfred L George Jr">Alfred L George Jr</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medicine, Vanderbilt University, Nashville, TN, USA; Department of Pharmacology, Vanderbilt University, Nashville, TN, USA." 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=Kearney+JA&cauthor_id=24157691" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Jennifer A Kearney">Jennifer A Kearney</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medicine, Vanderbilt University, Nashville, TN, USA. Electronic address: jennifer.kearney@vanderbilt.edu." href="#full-view-affiliation-5" ref="linksrc=author_aff"> 5 </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="/24157691/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> Department of Medicine, Vanderbilt University, Nashville, TN, USA.</li> <li data-affiliation-id="full-view-affiliation-2" id="full-view-affiliation-2" ><sup class="key">2</sup> Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.</li> <li data-affiliation-id="full-view-affiliation-3" id="full-view-affiliation-3" ><sup class="key">3</sup> Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.</li> <li data-affiliation-id="full-view-affiliation-4" id="full-view-affiliation-4" ><sup class="key">4</sup> Department of Medicine, Vanderbilt University, Nashville, TN, USA; Department of Pharmacology, Vanderbilt University, Nashville, TN, USA.</li> <li data-affiliation-id="full-view-affiliation-5" id="full-view-affiliation-5" ><sup class="key">5</sup> Department of Medicine, Vanderbilt University, Nashville, TN, USA. 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class="in-clipboard-label " hidden> Item in Clipboard </div> </div> <div class="short-view" id="short-view-heading"> <h1 class="heading-title"> Novel SCN3A variants associated with focal epilepsy in children </h1> <div class="short-citation"> <span class="authors-list"> <span class="authors-list-item "><span class="full-name">Carlos G Vanoye</span><span class="citation-separator"> et al.</span></span> </span> <span class="citation-journal"> Neurobiol Dis<span class="citation-separator">.</span> </span> <span class="date"> <span class="citation-year">2014 Feb</span><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" data-fetch-url="/24157691/long-authors/" data-id-prefix=""> <span class="title">Show details</span> </button> <div 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href="/?term=Vanoye+CG&cauthor_id=24157691" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Carlos G Vanoye">Carlos G Vanoye</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medicine, Vanderbilt University, Nashville, TN, USA." 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=Gurnett+CA&cauthor_id=24157691" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Christina A Gurnett">Christina A Gurnett</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Neurology, Washington University School of Medicine, St. Louis, MO, 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=Holland+KD&cauthor_id=24157691" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Katherine D Holland">Katherine D Holland</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA." 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=George+AL+Jr&cauthor_id=24157691" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Alfred L George Jr">Alfred L George Jr</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medicine, Vanderbilt University, Nashville, TN, USA; Department of Pharmacology, Vanderbilt University, Nashville, TN, USA." 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=Kearney+JA&cauthor_id=24157691" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Jennifer A Kearney">Jennifer A Kearney</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Medicine, Vanderbilt University, Nashville, TN, USA. Electronic address: jennifer.kearney@vanderbilt.edu." href="#short-view-affiliation-5" ref="linksrc=author_aff"> 5 </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> Department of Medicine, Vanderbilt University, Nashville, TN, USA.</li> <li data-affiliation-id="short-view-affiliation-2" id="short-view-affiliation-2" ><sup class="key">2</sup> Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.</li> <li data-affiliation-id="short-view-affiliation-3" id="short-view-affiliation-3" ><sup class="key">3</sup> Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.</li> <li data-affiliation-id="short-view-affiliation-4" id="short-view-affiliation-4" ><sup class="key">4</sup> Department of Medicine, Vanderbilt University, Nashville, TN, USA; Department of Pharmacology, Vanderbilt University, Nashville, TN, USA.</li> <li data-affiliation-id="short-view-affiliation-5" id="short-view-affiliation-5" ><sup class="key">5</sup> Department of Medicine, Vanderbilt University, Nashville, TN, USA. Electronic address: jennifer.kearney@vanderbilt.edu.</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">24157691</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=PMC3877720&id_type=PMC" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC3877720/" data-ga-category="full_text" data-ga-action="PMCID" > PMC3877720 </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.nbd.2013.10.015&id_type=DOI" href="https://doi.org/10.1016/j.nbd.2013.10.015" data-ga-category="full_text" data-ga-action="DOI" > 10.1016/j.nbd.2013.10.015 </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="/24157691/citations/" data-citation-style="nlm" data-pubmed-format-link="/24157691/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> Voltage-gated sodium (NaV) channels are essential for initiating and propagating action potentials in the brain. More than 800 mutations in genes encoding neuronal NaV channels including SCN1A and SCN2A have been associated with human epilepsy. Only one epilepsy-associated mutation has been identified in SCN3A encoding the NaV1.3 neuronal sodium channel. We performed a genetic screen of pediatric patients with focal epilepsy of unknown cause and identified four novel SCN3A missense variants: R357Q, D766N, E1111K and M1323V. We determined the functional consequences of these variants along with the previously reported K354Q mutation using heterologously expressed human NaV1.3. Functional defects were heterogeneous among the variants. The most severely affected was R357Q, which had a significantly smaller current density and slower activation than the wild-type (WT) channel as well as depolarized voltage dependences of activation and inactivation. Also notable was E1111K, which evoked a significantly greater level of persistent sodium current than WT channels. Interestingly, a common feature shared by all variant channels was increased current activation in response to depolarizing voltage ramps revealing a functional property consistent with conferring neuronal hyper-excitability. Discovery of a common biophysical defect among variants identified in unrelated pediatric epilepsy patients suggests that SCN3A may contribute to neuronal hyperexcitability and epilepsy. </p> </div> <p> <strong class="sub-title"> Keywords: </strong> Epilepsy; Persistent current; Ramp currents; SCN3A; Sodium channel. </p> </div> <p class="copyright" id="copyright"> © 2013. </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/db56/3877720/7bdc8e78ab0f/nihms534291f1.jpg" itemprop="contentUrl" aria-describedby="figure-caption-0" role="button" data-image-width="1003" data-image-height="1050" data-image-alt="Figure 1" data-pmc-id="PMC3877720" data-figure-id="F1"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-0" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db56/3877720/ce4c0d9765ab/nihms534291f1.gif" alt="Figure 1" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="1003"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="1050"> <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. Location and evolutionary conservation of… </p> </strong> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 1. Location and evolutionary conservation of Na <sub> V </sub> 1.3 variants </p> </strong> <div class="figure-caption-contents"><p> ( <b> A </b> ) Predicted transmembrane topology… </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. Location and evolutionary conservation of Na<sub>V</sub>1.3 variants </strong> <div class="figure-caption-contents">(<b>A</b>) Predicted transmembrane topology of Na<sub>V</sub>1.3 depicting the location of the variants (●) characterized in this study. The grey rectangle behind the depiction represents the plasma membrane. The S4 segments are illustrated as black cylinders with plus (+) signs. (<b>B</b>) Multiple alignment of human homologs and species orthologs of Na<sub>V</sub>1.3 (Clustal Omega; Sievers et al, 2011). The variant amino acids are shaded to highlight conservation at the variant positions.</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="1" data-label-slug="figure-2"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db56/3877720/fa21110b7bf5/nihms534291f2.jpg" itemprop="contentUrl" aria-describedby="figure-caption-1" role="button" data-image-width="877" data-image-height="1050" data-image-alt="Figure 2" data-pmc-id="PMC3877720" data-figure-id="F2"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-1" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db56/3877720/c7419812f1b6/nihms534291f2.gif" alt="Figure 2" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="877"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="1050"> <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 2. Biophysical properties of heterologously expressed… </p> </strong> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 2. Biophysical properties of heterologously expressed human Na <sub> V </sub> 1.3 </p> </strong> <div class="figure-caption-contents"><p> ( <b> A </b> ) Averaged whole-cell currents… </p></div> </div> <figcaption id="figure-caption-1" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 2. Biophysical properties of heterologously expressed human Na<sub>V</sub>1.3 </strong> <div class="figure-caption-contents">(<b>A</b>) Averaged whole-cell currents recorded from cells transiently coexpressing Na<sub>V</sub>1.3 and both β<sub>1</sub> and β2 subunits (n = 29). (<b>B</b>) Current-voltage relationships measured from Na<sub>V</sub>1.3-expressing cells (n = 29). (<b>C</b>) Voltage dependence of time to peak current (n = 29). (<b>D</b>) Voltage dependence of inactivation time constants (fast, ●; slow, ○; n = 25–27). (<b>E</b>) Fractional amplitudes for inactivation time constants (fast, ■; slow, □; n = 25–27). (<b>F</b>) Superimposed steady-state channel availability (○) and conductance-voltage relationship (●) for Na<sub>V</sub>1.3 currents (n = 29 and 23, respectively). Solid lines represent data fitted with Boltzmann functions. (<b>G</b>) Time course of recovery from fast inactivation (holding potential was −120 mV). Line represents data fitted with a two-exponential function (n = 10). Biophysical fit parameters are given in Table 2.</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="2" data-label-slug="figure-3"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db56/3877720/38c4654ab1f9/nihms534291f3.jpg" itemprop="contentUrl" aria-describedby="figure-caption-2" role="button" data-image-width="828" data-image-height="1050" data-image-alt="Figure 3" data-pmc-id="PMC3877720" data-figure-id="F3"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-2" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db56/3877720/cd2f916b141f/nihms534291f3.gif" alt="Figure 3" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="828"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="1050"> <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 3. Whole-cell currents recorded from heterologously… </p> </strong> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 3. Whole-cell currents recorded from heterologously expressed Na <sub> V </sub> 1.3 channels </p> </strong> <div class="figure-caption-contents"><p> Average whole-cell currents recorded from… </p></div> </div> <figcaption id="figure-caption-2" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 3. Whole-cell currents recorded from heterologously expressed Na<sub>V</sub>1.3 channels </strong> <div class="figure-caption-contents">Average whole-cell currents recorded from tsA201 cells transiently coexpressing mutant Na<sub>V</sub>1.3 channels plus β<sub>1</sub> and β<sub>2</sub> accessory subunits. (<b>A</b>) K354Q (∀), n = 28; (<b>B</b>) R357Q (ν), n = 14; (<b>C</b>) D766N (<b>X</b>), n = 14; (<b>D</b>) E1111K (<b>M</b>), n = 15 and (<b>E</b>) M1323V (<b>8</b>), n = 13. (<b>F</b>) Current-voltage relationships measured from mutant Na<sub>V</sub>1.3-expressing cells. The gray solid line illustrates the data from cells expressing WT channels (Fig. 1A).</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="3" data-label-slug="figure-4"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db56/3877720/f94a4d0cb5fe/nihms534291f4.jpg" itemprop="contentUrl" aria-describedby="figure-caption-3" role="button" data-image-width="1050" data-image-height="829" data-image-alt="Figure 4" data-pmc-id="PMC3877720" data-figure-id="F4"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-3" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/db56/3877720/8ac198968324/nihms534291f4.gif" alt="Figure 4" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="1050"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="829"> <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 4. Persistent and ramp current for… </p> </strong> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 4. Persistent and ramp current for Na <sub> V </sub> 1.3 channels </p> </strong> <div class="figure-caption-contents"><p> ( <b> A </b> ) Average TTX-sensitive persistent… </p></div> </div> <figcaption id="figure-caption-3" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 4. Persistent and ramp current for Na<sub>V</sub>1.3 channels </strong> <div class="figure-caption-contents">(<b>A</b>) Average TTX-sensitive persistent currents normalized to the peak sodium current. Inset shows an expanded y-axis to highlight the increased persistent current of E1111K compared to WT. (<b>B</b>) Magnitude of persistent current as a percent of peak current for WT (n = 8), K354Q (n = 5), R357Q (n = 5), D766N (n = 6), E1111K (n = 5) and M1323V (n = 7). Asterisk indicates significance at <i>p</i> < 0.01. (<b>C</b>) Average TTX-sensitive ramp currents during a 0.2 mV/ms voltage ramp from a holding potential of −120 mV and expressed a percent of peak current. (<b>D</b>) Average TTX-sensitive inward charge movement calculated from ramp currents and normalized to the TTX-sensitive peak current generated by a voltage step to −10 mV to account for variation in channel expression (WT, n = 5; K354Q, n = 5; R357Q, n = 6; D766N, n = 6; E1111K, n = 6 and M1323V, n = 7). * <i>p</i> = 0.021; ** <i>p</i> ≤ 0.02; ‡ <i>p</i> ≤ 0.002.</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="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="/28235671/" ref="article_id=28235671&linksrc=similar_articles_link&ordinalpos=1" data-ga-category="similar_article" data-ga-action="28235671" data-ga-label=""> SCN3A deficiency associated with increased seizure susceptibility. </a> <div class="docsum-citation full-citation"> <span class="docsum-authors full-authors">Lamar T, Vanoye CG, Calhoun J, Wong JC, Dutton SBB, Jorge BS, Velinov M, Escayg A, Kearney JA.</span> <span class="docsum-authors short-authors">Lamar T, et al.</span> <span class="docsum-journal-citation full-journal-citation">Neurobiol Dis. 2017 Jun;102:38-48. doi: 10.1016/j.nbd.2017.02.006. 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J Neurosci. 1993;13:660–673. - <a class="reference-link" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC6576639/" ref="linksrc=references_link&ordinalpos=1" data-ga-category="reference" data-ga-action="PMC6576639" > PMC </a> - <a class="reference-link" href="/8381170/" ref="linksrc=references_link&ordinalpos=2" data-ga-category="reference" data-ga-action="8381170" > PubMed </a> </li> </ol> </li> <li> <ol class="references-and-notes-list"> <li class="skip-numbering" value="1"> Aronica E, Yankaya B, Troost D, van Vliet EA, Lopes da Silva FH, Gorter JA. Induction of neonatal sodium channel II and III alpha-isoform mRNAs in neurons and microglia after status epilepticus in the rat hippocampus. 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J Physiol. 2003;548:373–382. - <a class="reference-link" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC2342858/" ref="linksrc=references_link&ordinalpos=1" data-ga-category="reference" data-ga-action="PMC2342858" > PMC </a> - <a class="reference-link" href="/12651922/" ref="linksrc=references_link&ordinalpos=2" data-ga-category="reference" data-ga-action="12651922" > PubMed </a> </li> </ol> </li> <li> <ol class="references-and-notes-list"> <li class="skip-numbering" value="1"> Bartolomei F, Gastaldi M, Massacrier A, Planells R, Nicolas S, Cau P. Changes in the mRNAs encoding subtypes I, II and III sodium channel alpha subunits following kainate-induced seizures in rat brain. J Neurocytol. 1997;26:667–678. - <a class="reference-link" href="/9368880/" ref="linksrc=references_link&ordinalpos=1" data-ga-category="reference" data-ga-action="9368880" > PubMed </a> </li> </ol> </li> </ol> <div class="actions-bar"> <button class="show-all" ref="linksrc=show_all_references_link" aria-controls="top-references-list-1" data-next-page-url="/24157691/references/" data-ga-category="reference" data-ga-action="show_more" > Show all 48 references </button> </div> </div> </div> </div> <div id="publication-types" class="publication-types keywords-section"> <h2 class="title"> Publication types </h2> <ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Research Support, N.I.H., Extramural" tabindex="0" aria-controls="keyword-actions-publication-types-0" aria-expanded="false" data-pinger-ignore> Research Support, N.I.H., Extramural </button><div 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</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 Epilepsies, Partial / genetics*" tabindex="0" aria-controls="keyword-actions-mesh-terms-major-3" aria-expanded="false" data-pinger-ignore> Epilepsies, Partial / genetics* </button><div id="keyword-actions-mesh-terms-major-3" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Epilepsies, Partial / 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=%22Epilepsies%2C+Partial%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc" data-href="/?term=%22Epilepsies%2C+Partial%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Epilepsies, Partial/genetics"[MAJR]" data-ga-category="search" 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data-pinger-ignore> Epilepsies, Partial / physiopathology </button><div id="keyword-actions-mesh-terms-4" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Epilepsies, Partial / physiopathology"><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=%22Epilepsies%2C+Partial%2Fphysiopathology%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Epilepsies%2C+Partial%2Fphysiopathology%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Epilepsies, Partial/physiopathology"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Epilepsies, Partial / physiopathology"> 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=Epilepsies%2C+Partial" 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Mutation, Missense*" tabindex="0" aria-controls="keyword-actions-mesh-terms-major-10" aria-expanded="false" data-pinger-ignore> Mutation, Missense* </button><div id="keyword-actions-mesh-terms-major-10" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Mutation, Missense*"><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%2C+Missense%22%5BMAJR%5D&sort=date&sort_order=desc" data-href="/?term=%22Mutation%2C+Missense%22%5BMAJR%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Mutation, Missense"[MAJR]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Mutation, Missense*"> 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%2C+Missense" 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keyword-link" aria-label="Toggle dropdown menu for keyword Sodium Channels / physiology" tabindex="0" aria-controls="keyword-actions-mesh-terms-14" aria-expanded="false" data-pinger-ignore> Sodium Channels / physiology </button><div id="keyword-actions-mesh-terms-14" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Sodium Channels / physiology"><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=%22Sodium+Channels%2Fphysiology%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Sodium+Channels%2Fphysiology%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Sodium Channels/physiology"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Sodium Channels / physiology"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" 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Sodium Channel </button><div id="keyword-actions-substances-0" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword NAV1.3 Voltage-Gated Sodium Channel"><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=%22NAV1.3+Voltage-Gated+Sodium+Channel%22%5Bnm%5D&sort=date&sort_order=desc" data-href="/?term=%22NAV1.3+Voltage-Gated+Sodium+Channel%22%5Bnm%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&keyword="NAV1.3 Voltage-Gated Sodium Channel"[nm]" data-ga-category="search" data-ga-action="substance" data-ga-label="NAV1.3 Voltage-Gated Sodium Channel"> 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=%22NAV1.3+Voltage-Gated+Sodium+Channel%22" data-ga-category="search_mesh" data-ga-action="substance_link" 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</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 Sodium Channels" tabindex="0" aria-controls="keyword-actions-substances-2" aria-expanded="false" data-pinger-ignore> Sodium Channels </button><div id="keyword-actions-substances-2" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Sodium Channels"><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=%22Sodium+Channels%22%5Bnm%5D&sort=date&sort_order=desc" data-href="/?term=%22Sodium+Channels%22%5Bnm%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&keyword="Sodium Channels"[nm]" data-ga-category="search" data-ga-action="substance" data-ga-label="Sodium Channels"> Search in PubMed </a></li><li><a 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href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene&from_uid=24157691" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=24157691&ordinalpos=1&linkpos=2"> Gene </a></li><li><a title="Link to Gene for the GeneRIF subcategory" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene_rif&from_uid=24157691" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=24157691&ordinalpos=1&linkpos=3"> Gene (GeneRIF) </a></li><li><a title="Related information in MedGen" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen&from_uid=24157691" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=24157691&ordinalpos=1&linkpos=4"> MedGen </a></li><li><a title="OMIM (cited) Links" href="https://www.ncbi.nlm.nih.gov/omim?linkname=pubmed_omim_cited&from_uid=24157691" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=24157691&ordinalpos=1&linkpos=5"> OMIM (cited) </a></li><li><a title="Published protein sequences" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein&from_uid=24157691" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=24157691&ordinalpos=1&linkpos=6"> Protein </a></li><li><a title="Link to Protein RefSeqs" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein_refseq&from_uid=24157691" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=24157691&ordinalpos=1&linkpos=7"> Protein (RefSeq) </a></li></ul> </div> <div id="grants" class="grants"> <h2 class="title"> Grants and funding </h2> <div class="grants-list"><ul id="grants-head-list"><li class="grant-item"><a title="All articles for grant R37 NS032387/NS/NINDS NIH HHS/United States" href="/?term=R37+NS032387%2FNS%2FNINDS+NIH+HHS%2FUnited+States%5BGrants+and+Funding%5D&sort=date&sort_order=desc" ref="linksrc=grant_link" data-ga-category="search" data-ga-action="grant" data-ga-label="R37 NS032387" > R37 NS032387/NS/NINDS NIH HHS/United States </a></li><li class="grant-item"><a title="All articles for grant 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Novel SCN3A variants associated with focal epilepsy in children - PubMed