Comment: Dravet syndrome-"Old gene," novel mechanism

被引：0
|
作者：
Xu, Mingxuan [1 ]
机构：
[1] Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA
来源：
NEUROLOGY | 2014年 / 82卷 / 14期
关键词：
D O I：
10.1212/WNL.0000000000000300
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
Dravet syndrome (DS, MIM#607208),(1) or severe myoclonic epilepsy in infancy, is one of the most severe types of genetic epilepsy. Individuals with DS face a high risk of sudden unexplained death in epilepsy. In 75% of cases, DS is associated with mutations of the gene encoding the 1 subunit of the sodium channel, SCN1A. However, the genetic causes of DS without mutations in SCN1A remain largely unknown.
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页码：1250 / 1250
页数：1
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