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

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

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

Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 46(2008), 10 vom: 22. Okt., Seite 769-73
1. Verfasser: Zhang, Yue-hua (VerfasserIn)
Weitere Verfasser: Sun, Hui-hui, Liu, Xiao-yan, Ma, Xiu-wei, Yang, Zhi-xian, Xiong, Hui, Qin, Jiong, Lin, Qing, Wu, Xi-ru
Format: Aufsatz
Sprache:Chinese
Veröffentlicht: 2008
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:English Abstract Journal Article Research Support, Non-U.S. Gov't NAV1.1 Voltage-Gated Sodium Channel Nerve Tissue Proteins SCN1A protein, human Sodium Channels