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[Clinical features and SCN1A gene mutation analysis of severe myoclonic epilepsy of infancy].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Oct 2008

Zhang Yue-hua, Sun Hui-hui, Liu Xiao-yan, Ma Xiu-wei, Yang Zhi-xian, Xiong Hui, Qin Jiong, Lin Qing, Wu Xi-ru

Abstract excerpt

OBJECTIVE: Severe myoclonic epilepsy of infancy (SMEI), or Dravet syndrome, is a severe epileptic encephalopathy. This study aimed to investigate the clinical features and genetic diagnosis of SMEI. METHODS: The electroclinical data and the mutation of SCN1A gene in 13 children with SMEI were analyzed. RESULTS: Of the 13 children, 10 were males and 3 were females. Eight of them had family history of febrile...

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PMID: 19099883

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