SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures
作者: Jiaping WangHua GaoXinhua BaoQingping ZhangJiarui LiLiping WeiXiru WuYan ChenShujie Yu
作者单位: 1Peking University First Hospital
2Peking University
3Department of Neurology, Harbin Children’s Hospital
刊名: BMC Medical Genetics, 2017, Vol.18 (1)
来源数据库: Springer Journal
DOI: 10.1186/s12881-017-0460-1
关键词: SCN8AEpileptic encephalopathyFamily cases
英文摘要: SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. This study aimed to broaden the phenotypic-spectrum of disease related with SCN8A mutations.
原始语种摘要: SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. This study aimed to broaden the phenotypic-spectrum of disease related with SCN8A mutations.
全文获取路径: Springer  (合作)
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来源刊物:
影响因子:2.536 (2012)

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关键词翻译
关键词翻译
  • encephalopathy 脑病
  • epileptic 癫痫
  • infantile 幼年的
  • epilepsy 癫痫
  • benign 良性的
  • SCN 自导式导航
  • onset 开始
  • phenotypic 表型的
  • broaden 放宽
  • early