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

Détails bibliographiques
Publié dans:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 46(2008), 10 vom: 22. Okt., Seite 769-73
Auteur principal: Zhang, Yue-hua (Auteur)
Autres auteurs: Sun, Hui-hui, Liu, Xiao-yan, Ma, Xiu-wei, Yang, Zhi-xian, Xiong, Hui, Qin, Jiong, Lin, Qing, Wu, Xi-ru
Format: Article
Langue:Chinese
Publié: 2008
Accès à la collection:Zhonghua er ke za zhi = Chinese journal of pediatrics
Sujets: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