{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T04:19:01Z","timestamp":1769228341762,"version":"3.49.0"},"reference-count":4,"publisher":"Georg Thieme Verlag KG","issue":"01","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuropediatrics"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We report the clinical course of a 13-year-old male patient with a history of focal structural epilepsy starting at the age of 18 months due to focal cortical dysplasia (FCD) IIa and undetected genetic arrhythmia syndrome due to a pathogenic variant in sodium voltage-gated channel alpha subunit 5 (SCN5A) gene at that time.<\/jats:p>\n                  <jats:p>High-resolution MRI detected FCD in the left suprabasal margin matching the EEG focus. At the age of 12 years, epileptological\u2013surgical evaluation led to lesionectomy, which resulted in seizure freedom postoperatively. Months later, the patient experienced an episode of leg pain, increased tone of the upper body, and subsequent cardiac arrest. Resuscitation efforts were successful, leading to survival with hypoxic brain injury. Unexpected cardiac arrest not in line with the previous seizure semiology led to further cardiological examinations including electrophysiology and genetic testing, revealing a pathogenic SCN5A variant associated with arrhythmia syndromes. A two-chamber implantable cardioverter defibrillator (ICD) was implanted. To our knowledge, this combination of diseases has not been reported yet, a causal relationship stays speculatively. Nevertheless, it highlights the complexity of coexisting structural and genetic conditions that can only be detected in alertness to uncommon conditions and via an interdisciplinary approach.<\/jats:p>","DOI":"10.1055\/a-2736-4661","type":"journal-article","created":{"date-parts":[[2025,11,3]],"date-time":"2025-11-03T23:52:12Z","timestamp":1762213932000},"page":"069-072","source":"Crossref","is-referenced-by-count":0,"title":["Focal Cortical Dysplasia Type IIa and SCN5A-associated Genetic Arrhythmia: A Case Report"],"prefix":"10.1055","volume":"57","author":[{"given":"Leon Joschka","family":"Steigleder","sequence":"additional","affiliation":[{"name":"Sch\u00f6n Klinik Vogtareuth, Clinic for Neuropediatrics, Epilepsy Center for Children and Adolescents, Vogtareuth, BY, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tom","family":"Pieper","sequence":"additional","affiliation":[{"name":"Sch\u00f6n Klinik Vogtareuth, Clinic for Neuropediatrics, Epilepsy Center for Children and Adolescents, Vogtareuth, BY, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerhard Josef","family":"Kluger","sequence":"additional","affiliation":[{"name":"Sch\u00f6n Klinik Vogtareuth, Clinic for Neuropediatrics, Epilepsy Center for Children and Adolescents, Vogtareuth, BY, Germany"},{"name":"Paracelsus Medical University Salzburg, Research Institute \u201cRehabilitation, Transition, Palliation,\u201d Salzburg, Salzburg, AT, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristina","family":"Weber","sequence":"additional","affiliation":[{"name":"Sch\u00f6n Klinik Vogtareuth, Clinic for Neuropediatrics, Epilepsy Center for Children and Adolescents, Vogtareuth, BY, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Friederike","family":"Studt","sequence":"additional","affiliation":[{"name":"Paracelsus Medical University Salzburg, Research Institute \u201cRehabilitation, Transition, Palliation,\u201d Salzburg, Salzburg, AT, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heidi Luise","family":"Estner","sequence":"additional","affiliation":[{"name":"Department of Medicine I, LMU Munich, Munich, BY, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Clau\u00df","sequence":"additional","affiliation":[{"name":"Department of Medicine I, LMU Munich, Munich, BY, Germany"},{"name":"LMU Munich, Institute of Surgical Research at the Walter-Brendel-Centre of Experimental Medicine, Munich, BY, Germany"},{"name":"Munich Heart Alliance, DZHK (German Centre for Cardiovascular Research), Partner site Munich, Munich, BY, Germany"},{"name":"LMU Munich, Interfaculty Center for Endocrine and Cardiovascular Disease Network Modelling and Clinical Transfer (ICONLMU), Munich, BY, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meike","family":"Schrader","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology and Intensive Care, LMU Munich, Munich, BY, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Dalla Pozza","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology and Intensive Care, LMU Munich, Munich, BY, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milka","family":"Pringsheim","sequence":"additional","affiliation":[{"name":"Sch\u00f6n Klinik Vogtareuth, Clinic for Neuropediatrics, Epilepsy Center for Children and Adolescents, Vogtareuth, BY, Germany"},{"name":"Deutsches Herzzentrum Munich, Congenital Heart Diseases, Munich, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2025,11,10]]},"reference":[{"issue":"08","key":"ref1","doi-asserted-by":"crossref","first-page":"1899","DOI":"10.1111\/epi.17301","article-title":"The ILAE consensus classification of focal cortical dysplasia: an update proposed by an ad hoc task force of the ILAE diagnostic methods commission","volume":"63","author":"I Najm","year":"2022","journal-title":"Epilepsia"},{"issue":"03","key":"ref2","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/j.eplepsyres.2013.02.024","article-title":"Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation","volume":"105","author":"P Parisi","year":"2013","journal-title":"Epilepsy Res"},{"issue":"1879","key":"ref3","doi-asserted-by":"crossref","first-page":"20220164","DOI":"10.1098\/rstb.2022.0164","article-title":"SCN5A channelopathy: arrhythmia, cardiomyopathy, epilepsy and beyond","volume":"378","author":"C A Remme","year":"2023","journal-title":"Philos Trans R Soc Lond B Biol Sci"},{"issue":"06","key":"ref4","first-page":"e57","article-title":"Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death","volume":"63","author":"M S Soh","year":"2022","journal-title":"Epilepsia"}],"container-title":["Neuropediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2736-4661.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T23:53:10Z","timestamp":1769125990000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2736-4661"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,3]]},"references-count":4,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2026,1,22]]},"published-print":{"date-parts":[[2026,2]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2736-4661","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0174-304X","1439-1899"],"issn-type":[{"value":"0174-304X","type":"print"},{"value":"1439-1899","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,11,3]]},"published":{"date-parts":[[2025,11,3]]}}}