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Neurology. 2014 Apr 8;82(14):1250. doi: 10.1212/WNL.0000000000000300. Epub 2014 Mar 12.

Comment: Dravet syndrome--"old gene," novel mechanism.

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  • 1From the Department of Neurology, Baylor College of Medicine, Houston, TX.

Abstract

Dravet syndrome (DS, Online Mendelian Inheritance in Man#607208), 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 unexpected death in epilepsy. In ≥ 75% of cases, DS is associated with mutations of the gene encoding the α1 subunit of the sodium channel, SCN1A. However, the genetic causes of DS without mutations in SCN1A remain largely unknown.

Comment on

  • GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. [Neurology. 2014]
PMID:
24623837
[PubMed - indexed for MEDLINE]
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