{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T03:24:04Z","timestamp":1761017044672},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,10,25]],"date-time":"2013-10-25T00:00:00Z","timestamp":1382659200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Chonnam National University Hospital Research Institute of Clinical Medicine, Republic of Korea","award":["CRI09073-1"],"award-info":[{"award-number":["CRI09073-1"]}]},{"name":"National Health and Medical Research Council of Australia"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Develop Med Child Neuro"],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:sec><jats:title>Aim<\/jats:title><jats:p>To show that atypical multifocal <jats:styled-content style=\"fixed-case\">D<\/jats:styled-content>ravet syndrome is a recognizable, electroclinical syndrome associated with sodium channel gene (<jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>1A<\/jats:italic>) mutations that readily escapes diagnosis owing to later cognitive decline and tonic seizures.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Eight patients underwent electroclinical characterization. <jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>1A<\/jats:italic> was sequenced and copy number variations sought by multiplex ligation\u2010dependent probe amplification.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All patients were female (age range at assessment 5\u201326y) with median seizure onset at 6.5\u00a0months (range 4\u201319mo). The initial seizure was brief in seven and status epilepticus only occurred in one; three were febrile. Focal seizures occurred in four patients and bilateral convulsion in the other four. All patients developed multiple focal seizure types and bilateral convulsions, with seizure clusters in six. The most common focal seizure semiology (six out of eight) comprised unilateral clonic activity. Five also had focal or asymmetric tonic seizures. Rare or transient myoclonic seizures occurred in six individuals, often triggered by specific antiepileptic drugs. Developmental slowing occurred in all: six between 3 years and 8\u00a0years, and two around 1\u00a0year 6\u00a0months. Cognitive outcome varied from severe to mild intellectual disability. Multifocal epileptiform discharges were seen on electroencephalography. Seven out of eight patients had <jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>1A<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Atypical, multifocal <jats:styled-content style=\"fixed-case\">D<\/jats:styled-content>ravet syndrome with <jats:italic><jats:styled-content style=\"fixed-case\">SCN<\/jats:styled-content>1A<\/jats:italic> mutations may not be recognized because of later cognitive decline and frequent tonic seizures.<\/jats:p><\/jats:sec>","DOI":"10.1111\/dmcn.12322","type":"journal-article","created":{"date-parts":[[2013,10,25]],"date-time":"2013-10-25T10:39:01Z","timestamp":1382697541000},"page":"85-90","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Atypical multifocal <scp>D<\/scp>ravet syndrome lacks generalized seizures and may show later cognitive decline"],"prefix":"10.1111","volume":"56","author":[{"given":"Young Ok","family":"Kim","sequence":"first","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine The University of Melbourne Austin Health Melbourne Australia"},{"name":"Department of Paediatrics School of Medicine Chonnam National University Gwangju Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susannah","family":"Bellows","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine The University of Melbourne Austin Health Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacinta M","family":"McMahon","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine The University of Melbourne Austin Health Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xenia","family":"Iona","sequence":"additional","affiliation":[{"name":"Epilepsy Research 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Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J Helen","family":"Cross","sequence":"additional","affiliation":[{"name":"UCL\u2010Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust London UK"},{"name":"Young Epilepsy Lingfield UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel F","family":"Berkovic","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine The University of Melbourne Austin Health Melbourne Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid E","family":"Scheffer","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine The University of Melbourne Austin Health Melbourne Australia"},{"name":"Florey Institute Melbourne Australia"},{"name":"Department of Paediatrics The University of Melbourne Royal Children's Hospital Melbourne 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