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

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

Mingxuan Xu  1
Affiliations
Comment

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

Mingxuan Xu. Neurology. .

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.

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Comment on

  • GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
    Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Møller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC. Carvill GL, et al. Neurology. 2014 Apr 8;82(14):1245-53. doi: 10.1212/WNL.0000000000000291. Epub 2014 Mar 12. Neurology. 2014. PMID: 24623842 Free PMC article.

References

    1. Carvill GL, Weckhuysen S, McMahon JM, et al. . GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology 2013;82:1245–1253. - PMC - PubMed

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