A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures. Issue 2 (June 2014)

• Record Type: Journal Article
• Authors: Jingami, Naoto; Matsumoto, Riki; Ito, Hirotaka; Ishii, Atsushi; Ihara, Yukiko; Hirose, Shinichi; Ikeda, Akio; Takahashi, Ryosuke
• Is Part Of: Epileptic disorders. Volume 16:Issue 2(2014:Jun.)
• Page Start: 227
• Page End: 231
• Publication Date: 2014-06
• Subjects: Epilepsy -- Periodicals; 616.853
• DOI: 10.1684/epd.2014.0657
• Languages: English
• ISSNs: 1294-9361

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Generalised (genetic) epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome with various phenotypes. The majority of individuals with GEFS+ have generalised seizure types, in addition to febrile seizures (FS) or febrile seizures plus (FS+), defined as either continued FS after 6 years of age or afebrile seizures following FS. A 27‐year‐old man with no history of FS/FS+ experienced intractable generalised convulsive seizures. The patient's father had a history of similar seizures during puberty and the patient's siblings had only FS. No individual in the family had both generalised seizures and FS/FS+, although GEFS+ might be considered to be present in the family. Analysis of <italic>SCN1A</italic>, a sodium channel gene, revealed a novel mutation (c.3250A>T [S1084C]) in the cytoplasmic loop 2 of <italic>SCN1A</italic> in both the patient and his father. Most previously reported <italic>SCN1A</italic> mutations in GEFS+ patients are located in the conserved homologous domains of <italic>SCN1A</italic>, whereas mutations in the cytoplasmic loops are very rare. <italic>SCN1A</italic> gene analysis is not commonly performed in subjects with generalised seizures without FS. <italic>SCN1A</italic> mutation may be a clinically‐useful genetic marker in order to distinguish GEFS+ patients from those with classic idiopathic generalised epilepsy, even if they present an atypical clinical picture.</p> </abstract>