Novel SCN1A mutation causing Dravet syndrome: Case report and review of the literature

被引：0

作者：

Strader, Scott ^{[1
]}

Benson, Rebecca ^{[2
]}

Joshi, Charuta ^{[3
]}

机构：

[1] Univ Iowa, Carver Coll Med, Dept Neurol, Iowa City, IA USA

[2] Univ Iowa, Carver Coll Med, Dept Pediat, Iowa City, IA USA

[3] Univ Iowa, Carver Coll Med, Dept Pediat, Div Pediat Neurol, Iowa City, IA 52242 USA

来源：

JOURNAL OF PEDIATRIC NEUROLOGY | 2011年 / 9卷 / 03期

关键词：

Epilepsy; myoclonic; infantile;

D O I：

10.3233/JPN-2011-0480

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

In this article, we report a novel, unreported SCN1A mutation in a 3-year-old girl with Dravet syndrome. She has an insertional mutation of an adenine nucleotide immediately adjacent to base pair 1566 in exon 10, resulting in a premature stop codon at amino acid 524. We review the current literature on Dravet syndrome, also known as severe myoclonic epilepsy in infancy.

引用

页码：401 / 403

页数：3

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