期刊
JOURNAL OF NEUROGENETICS
卷 32, 期 1, 页码 1-5出版社
TAYLOR & FRANCIS LTD
DOI: 10.1080/01677063.2017.1404057
关键词
KCNJ10; EAST syndrome; Kir4.1; SeSAME syndrome
We report a consanguineous family with three affected siblings with novel mutation in the KCNJ10 gene. All three presented with central nervous system symptoms in the form of infantile focal seizures, ataxia, slurred speech with early developmental delay and intellectual disability in two siblings. None had any associated electrolyte abnormalities and no symptomatic hearing deficits were observed.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据