C121W Implicated in GEFS+ is a Thermosensitive Sodium Channel Mutation
نویسندگان
چکیده
منابع مشابه
sodium channel gene mutations in children with gefs+ and dravet syndrome: a cross sectional study
how to cite this article: tonekaboni sh, ebrahimi a, bakhshandeh bali mk, houshmand m, moghaddasi m, taghdiri mm, nasehi mm. sodium channel gene mutations in children with gefs + and dravet syndrome: a cross sectional study. iran j child neurol. 2013 winter; 7 (1):25-29. objective dravet syndrome or severe myoclonic epilepsy of infancy (smei) is a baleful epileptic encephalopathy that begins ...
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Epilepsy is a disorder characterized by seizures and convulsions. The basis of epilepsy is an increase in neuronal excitability that, in some cases, may be caused by functional defects in neuronal voltage gated sodium channels (NaVs). The C121W mutation of the β1 subunit, in particular, gives rise to the thermosensitive generalized epilepsy with febrile seizures plus (GEFS+) phenotype. Lacosami...
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SCN1B, the gene encoding the sodium channel beta 1 subunit, was the first gene identified for generalized epilepsy with febrile seizures plus (GEFS+). Only three families have been published with SCN1B mutations. Here, we present four new families with SCN1B mutations and characterize the associated phenotypes. Analysis of SCN1B was performed on 402 individuals with various epilepsy syndromes. ...
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ژورنال
عنوان ژورنال: Biophysical Journal
سال: 2011
ISSN: 0006-3495
DOI: 10.1016/j.bpj.2010.12.2506