Quantitative features of SCN1A associated epilepsies:relationships among genotype,functional alterat

来源 :The 6th FAONS Congress and 11th Biennial Conference of CNS(第 | 被引量 : 0次 | 上传用户：ljc2696

【摘要】

：

Mutations in SCN1A gene have been identified in epilepsies with widely variable severity,ranging from the extremely severe form of severe myoclonic epilepsy of infancy to the mild form of generalized

【作者】

：

Wei-Ping Liao Heng Meng Hai-Qing Xu Lu Yu Guo-Wang Lin Na He Tao Su Yi-Wu Shi Jie Wang Yong-Hong Yi

【机构】

：

Institute of Neuroscience and The Second Affiliated Hospital of Guangzhou Medical University;Key Lab

【出处】

：

The 6th FAONS Congress and 11th Biennial Conference of CNS(第

【发表日期】

：

2015年3期

【关键词】

：

SCN1A sodium channel Nav1.1 epilepsy mosaicism pathogenicity

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　　Mutations in SCN1A gene have been identified in epilepsies with widely variable severity,ranging from the extremely severe form of severe myoclonic epilepsy of infancy to the mild form of generalized epilepsy with FS plus,or pure FS.

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Quantitative features of SCN1A associated epilepsies:relationships among genotype,functional alterat

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