Electroclinical features of epileptic encephalopathy caused by SCN8A mutation

被引：15

作者：

Takahashi, Satoru ^{[1
]}

Yamamoto, Shiho ^{[1
]}

Okayama, Akie ^{[1
]}

Araki, Akiko ^{[1
]}

Saitsu, Hirotomo ^{[2
]}

Matsumoto, Naomichi ^{[2
]}

Azuma, Hiroshi ^{[1
]}

机构：

[1] Asahikawa Med Univ, Dept Pediat, Asahikawa, Hokkaido 0788510, Japan

[2] Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 232, Japan

来源：

PEDIATRICS INTERNATIONAL | 2015年 / 57卷 / 04期

基金：

日本学术振兴会;

关键词：

epilepsy; encephalopathy; mutation; SCN8A; sodium channel; DE-NOVO MUTATIONS; SODIUM-CHANNEL SCN8A; SEIZURES; INFANCY;

D O I：

10.1111/ped.12622

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Voltage-gated sodium channel Na(v)1.6, encoded by the gene SCN8A, plays a crucial role in controlling neuronal excitability. SCN8A mutations that cause increased channel activity are associated with seizures. We describe a patient with epileptic encephalopathy caused by de novo SCN8A mutation (c.5614C>T, p.Arg1872Trp). Seizures began 10 days after birth at which time brain magnetic resonance imaging (MRI) and electroencephalography (EEG) were normal. Seizure recurrence increased with age, leading to the development of frequent status epilepticus from 1 year of age. Seizure type included generalized tonic seizures and focal motor seizures. EEG first showed focal epileptic activity at the age of 4 months, and thereafter showed multifocal spikes. Serial MRI demonstrated brain atrophy, which appeared to progress with seizure aggravation. Clinical features that may give a clue to the diagnosis include normal EEG despite frequent seizures in early infancy and an increase in epileptic activity that occurs with aging.

引用

页码：758 / 762

页数：5

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