Thieme E-Journals - Journal of Pediatric Epilepsy / Abstract

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// custom KV example window._adexc.push([ '/506/3014/', 'ut', '_kv', { 'IpLoggedIn':'false', 'LoggedIn':'false', 'isFulltext':'false', 'JournalDoi': '00029025', } ]); var axd = document.createElement('script'); axd.type = 'text/javascript'; axd.async = 1; axd.src = "https://dmp.theadex.com/d/506/3014/s/adex.js"; var s = document.getElementsByTagName('script')[0]; s.parentNode.insertBefore(axd, s); })(); </script>  <script src="https://polyfill.io/v3/polyfill.min.js?features=es6"></script> <script type="text/javascript" id="MathJax-script" async src="https://cdn.jsdelivr.net/npm/mathjax@3/es5/mml-chtml.js"></script> <meta name="page" content="abstract"/> <meta name="layout" content="main"/> <meta name="prism:publicationName" content="Journal of Pediatric Epilepsy" /> <meta name="prism:issn" content="2146-457X" /> <meta name="prism:eissn" content="2146-4588" /> <meta name="prism:distributor" content="Georg Thieme Verlag KG" /> <meta name="prism:copyright" content="Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany" /> <meta name="prism:doi" content="10.1055/s-0044-1786374" /> <meta name="prism:academicField" content="Case Report" /> <meta name="prism:person" content="Mariana Loos" /> <meta name="prism:person" content="Maria Sol Touzon" /> <meta name="prism:person" content="Gabriela Reyes" /> <meta name="prism:person" content="Matias Juanes" /> <meta name="prism:person" content="Roberto H. Caraballo" /> <meta name="prism:copyrightYear" content="2024" /> <meta name="prism:copyrighEntity" content="Georg Thieme Verlag KG" /> <meta name="prism:publicationDate" content="2024/05/15" /> <meta name="prism:coverDate" content="2024/09" /> <meta name="prism:volume" content="13" /> <meta name="prism:issueIdentifier" content="03" /> <meta name="prism:startingPage" content="058" /> <meta name="prism:endingPage" content="062" /> <meta name="prism:url" content="http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0044-1786374" /> <meta name="citation_language" content="en" /> <meta name="citation_journal_title" content="Journal of Pediatric Epilepsy" /> <meta name="citation_issn" content="2146-457X" /> <meta name="citation_issn" content="2146-4588" /> <meta name="citation_publisher" content="Georg Thieme Verlag KG" /> <meta name="citation_doi" content="10.1055/s-0044-1786374" /> <meta name="citation_title" content="Variable Phenotypes in the Same Patient with PRRT2-Associated Disorders" /> <meta name="citation_author" content="Mariana Loos" /> <meta name="citation_author_institution" content="Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P Garrahan, Buenos Aires, Argentina" /> <meta name="citation_author" content="Maria Sol Touzon" /> <meta name="citation_author_institution" content="Genomics Laboratory, Hospital de Pediatría Prof. Dr. Juan P Garrahan, Buenos Aires, Argentina" /> <meta name="citation_author" content="Gabriela Reyes" /> <meta name="citation_author_institution" content="Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P Garrahan, Buenos Aires, Argentina" /> <meta name="citation_author" content="Matias Juanes" /> <meta name="citation_author_institution" content="Genomics Laboratory, Hospital de Pediatría Prof. Dr. Juan P Garrahan, Buenos Aires, Argentina" /> <meta name="citation_author" content="Roberto H. Caraballo" /> <meta name="citation_author_institution" content="Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P Garrahan, Buenos Aires, Argentina" /> <meta name="citation_author_email" content="rhcaraballo@arnet.com.ar" /> <meta name="citation_online_date" content="2024/05/15" /> <meta name="citation_publication_date" content="2024/09" /> <meta name="citation_volume" content="13" /> <meta name="citation_issue" content="03" /> <meta name="citation_firstpage" content="058" /> <meta name="citation_lastpage" content="062" /> <meta name="citation_pdf_url" content="http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0044-1786374.pdf" /> <meta name="citation_fulltext_html_url" content="http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0044-1786374" /> <meta name="citation_xml_url" content="http://www.thieme-connect.de/products/ejournals/xml/10.1055/s-0044-1786374.xml" format_fulltext="jats1.3" /> <meta name="citation_abstract_html_url" content="http://www.thieme-connect.de/DOI/DOI?10.1055/s-0044-1786374" /> <meta name="citation_license" content="[null, null]" /> <meta name="citation_abstract" content="<p>Mutations in the <i>PRRT2</i> gene lead to a spectrum of diseases with a common pathophysiology including self-limited (familial) infantile epilepsy and paroxysmal kinesigenic dyskinesia as well as other paroxysmal diseases involving movement and headache disorders. Atypical phenotypes, associated with episodic ataxia, epilepsy, hemiplegic migraine, developmental delay, and intellectual disability, have been reported in approximately 5% of the patients, which is probably an underestimation. Here, we present three patients with variable <i>PRRT2</i> phenotypes in each patient. In the first two patients, the manifestations were characterized by episodes of nonepileptic paroxysms and focal seizures starting in the first years of life with good response to carbamazepine. One of them had no family history either of epilepsy or nonepileptic motor manifestations. The other patient simultaneously developed epileptic spasms. Neurodevelopment was normal in both. The third patient presented with early-onset focal epilepsy that was resistant to antiseizure medications and evolved to spike-wave activation in sleep associated with cognitive impairment and ataxia. In this patient, in addition to the mutation in the <i>PRRT2</i> gene, a novel pathogenic <i>SCN1A</i> variant was identified. The distinct clinical presentations in the same patient observed in our cases confirm the broad spectrum of <i>PRRT2</i>-associated diseases.</p> " /> <meta name="citation_reference" content="citation_author=R Cloarec; citation_author=N Bruneau; citation_author=G Rudolf; citation_publication_date=2012; citation_title=PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine; citation_firstpage=2097; citation_lastpage=2103; citation_issue=21; citation_journal_title=Neurology; citation_volume=79; " /> <meta name="citation_reference" content="citation_author=C R Massimino; citation_author=L Portale; citation_author=A Sapuppo; citation_publication_date=2023; citation_title=PRRT2 related epilepsies: a gene review; citation_firstpage=264; citation_lastpage=272; citation_journal_title=J Pediatr Neurol; citation_volume=21; " /> <meta name="citation_reference" content="citation_author=A Labate; citation_author=P Tarantino; citation_author=G Palamara; citation_publication_date=2013; 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" /> <meta name="dc:medium" content="Journal of Pediatric Epilepsy" /> <meta name="dc:language" content="en" /> <meta name="dc:rights" content="Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany" /> <meta name="dc:publisher" content="Georg Thieme Verlag KG" /> <meta name="dc:identifier" content="10.1055/s-0044-1786374" /> <meta name="dc:subject" content="Case Report" /> <meta name="dc:title" content="Variable Phenotypes in the Same Patient with PRRT2-Associated Disorders" /> <meta name="dc:creator" content="Mariana Loos" /> <meta name="dc:creator" content="Maria Sol Touzon" /> <meta name="dc:creator" content="Gabriela Reyes" /> <meta name="dc:creator" content="Matias Juanes" /> <meta name="dc:creator" content="Roberto H. Caraballo" /> <meta name="dc:rightsHolder" content="Georg Thieme Verlag KG" /> <meta name="dc:date" content="2024/05/15" /> <meta name="dcterms:issued" content="2024/09" /> <meta name="dcterms:abstract" content="Mutations in the PRRT2 gene lead to a spectrum of diseases with a common pathophysiology including self-limited (familial) infantile epilepsy and paroxysmal kinesigenic dyskinesia as well as other paroxysmal diseases involving movement and headache disorders. Atypical phenotypes, associated with episodic ataxia, epilepsy, hemiplegic migraine, developmental delay, and intellectual disability, have been reported in approximately 5% of the patients, which is probably an underestimation. Here, we present three patients with variable PRRT2 phenotypes in each patient. In the first two patients, the manifestations were characterized by episodes of nonepileptic paroxysms and focal seizures starting in the first years of life with good response to carbamazepine. One of them had no family history either of epilepsy or nonepileptic motor manifestations. The other patient simultaneously developed epileptic spasms. Neurodevelopment was normal in both. The third patient presented with early-onset focal epilepsy that was resistant to antiseizure medications and evolved to spike-wave activation in sleep associated with cognitive impairment and ataxia. In this patient, in addition to the mutation in the PRRT2 gene, a novel pathogenic SCN1A variant was identified. The distinct clinical presentations in the same patient observed in our cases confirm the broad spectrum of PRRT2-associated diseases. 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class="author"> <div class="name">Gabriela Reyes</div> <div class="affiliation"> <sup>1   </sup>Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P Garrahan, Buenos Aires, Argentina</div> <div class="authorseparator">, </div> </span><span class="author"> <div class="name">Matias Juanes</div> <div class="affiliation"> <sup>2   </sup>Genomics Laboratory, Hospital de Pediatría Prof. Dr. Juan P Garrahan, Buenos Aires, Argentina</div> <div class="authorseparator">, </div> </span><span class="author"> <div class="name">Roberto H. Caraballo</div> <div class="affiliation"> <sup>1   </sup>Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P Garrahan, Buenos Aires, Argentina</div> <div class="affiliation"></div> </span><a style="text-decoration: none;" class="toggle-affiliation-infos" href="#">&rsaquo; Author Affiliations<span class="verbum"></span></a></span> <div class="toggleMenu articleToggleMenu"> <a style="text-decoration: none;" href="#info"> &rsaquo; Further Information</a> <div class="platformLink"> <span class="label"><a style="color: #000000; text-decoration: none" class="virtualLink">Also available at</a></span><a target="_blank" class="btnPlatformLink" href="https://eref.thieme.de/10.1055/s-0044-1786374"><img src="/media/10.1055-s-00000000/btn-eRef-desktop.png"></a> </div> </div> </div><ul class="tabBar borderBottom" id="articleTabs"> <li class="tab active"> <a href="#abstract">Abstract</a> </li> <li class="tab"> <a href="/products/ejournals/html/10.1055/s-0044-1786374">Full Text</a> </li> <li class="tab"> <a href="#references">References</a> </li> </ul><div id="sections"> <section id="abstract"> <div class="articleFunctions"> <input value="ai10.1055/s-0044-1786374,10.1055/s-0044-1786374" name="ai" type="hidden"> <div style="display: none" id="sfx10.1055/s-0044-1786374"> <a id="sfxServer" data-href="?id=doi:10.1055/s-0044-1786374&sid=Thieme:Connect&jtitle=Journal of Pediatric Epilepsy&issue=03&volume=13&date=2024&issn=2146-457X&spage=058&epage=062&aulast=Loos&aufirst=Mariana&__char_set=utf8&atitle=Variable Phenotypes in the Same Patient with PRRT2-Associated Disorders" target="sfx"><span class="articleAccessLabel sfx"><img id="sfxImageUrl" src="" alt="SFX Search" height="15" width="52"></span></a> </div> <a style="display: none" href="/products/ejournals/buyDocument/10.1055/s-0044-1786374" class="gotoLink" id="sasLink">Buy Article</a> <a onClick="RightslinkPopUp("2146-4588", "Variable Phenotypes in the Same Patient with PRRT2-Associated Disorders", "05/15/2024", "Mariana Loos, Maria Sol Touzon, Gabriela Reyes, Matias Juanes, Roberto H. Caraballo", "", "10.1055/s-0044-1786374", "058", "062", "13", "03", "")" class="gotoLink" href="javascript:;">Permissions and Reprints</a> </div> <figure style="margin-left: 30px" class="floatRight"> <a data-doi="10.1055/s-0044-1786374" data-caption="" data-id="10-1055-s-0044-1786374_2400001-1.jpg" data-cssClass="previewOverlay" href="https://www.thieme-connect.de/media/10.1055-s-00029025/202403/lookinside/10-1055-s-0044-1786374_2400001-1.jpg" class="zoomFunction alignLeft"><img src="https://www.thieme-connect.de/media/10.1055-s-00029025/202403/lookinside/thumbnails/10-1055-s-0044-1786374_2400001-1.jpg"></a> <figcaption></figcaption> </figure> <a name="N10B35"></a> <h3>Abstract</h3> <p>Mutations in the <span class="i">PRRT2</span> gene lead to a spectrum of diseases with a common pathophysiology including self-limited (familial) infantile epilepsy and paroxysmal kinesigenic dyskinesia as well as other paroxysmal diseases involving movement and headache disorders. Atypical phenotypes, associated with episodic ataxia, epilepsy, hemiplegic migraine, developmental delay, and intellectual disability, have been reported in approximately 5% of the patients, which is probably an underestimation. Here, we present three patients with variable <span class="i">PRRT2</span> phenotypes in each patient. In the first two patients, the manifestations were characterized by episodes of nonepileptic paroxysms and focal seizures starting in the first years of life with good response to carbamazepine. One of them had no family history either of epilepsy or nonepileptic motor manifestations. The other patient simultaneously developed epileptic spasms. Neurodevelopment was normal in both. The third patient presented with early-onset focal epilepsy that was resistant to antiseizure medications and evolved to spike-wave activation in sleep associated with cognitive impairment and ataxia. In this patient, in addition to the mutation in the <span class="i">PRRT2</span> gene, a novel pathogenic <span class="i">SCN1A</span> variant was identified. The distinct clinical presentations in the same patient observed in our cases confirm the broad spectrum of <span class="i">PRRT2</span>-associated diseases.</p> <i></i><i></i> <div class="articleKeywords"> <a name="N10B4D"></a> <h3>Keywords</h3> antiseizure medications - carbamazepine - epileptic encephalopathy - focal seizures - movement disorders - PRRT2 </div> <br> <br> <a name="info"></a> <h3>Publication History</h3> <p>Received: 05 January 2024<br> <br>Accepted: 31 March 2024<br> <br>Article published online:<br>15 May 2024<br> </p> <p>© 2024. Thieme. All rights reserved.</p> <p>Georg Thieme Verlag KG<br>Rüdigerstraße 14, 70469 Stuttgart, Germany</p> <div id="trendmd-suggestions"></div> </section> <section id="htmlfulltext"> </section> <section id="references"> <a name=""></a> <ul class="literaturliste"> <a name="N10CE6"></a> <li> <h3>References</h3> </li> <li> <a name="JR2400001-1"></a><strong>1</strong> Cloarec R, Bruneau N, Rudolf G. et al. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. 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Thieme E-Journals - Journal of Pediatric Epilepsy / Abstract