期刊
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
卷 81, 期 6, 页码 479-491出版社
WILEY
DOI: 10.1002/jdn.10123
关键词
autism spectrum disorder; mutation; potassium channels
资金
- National Key R&D Program of China [2017YFC1309903]
Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by impaired social interaction and communication, and restricted, repetitive behaviors. Potassium channels play a key role in regulating neuronal excitability, and ASD susceptibility genes associated with potassium channels may contribute to altered brain function in ASD pathogenesis.
Autism spectrum disorder (ASD) comprises a group of neurodevelopmental disorders characterized by impaired social interaction and communication, and restricted, repetitive patterns of behaviors, interests, or activities. It had been demonstrated that potassium channels played a key role in regulating neuronal excitability, which was closely associated with neurological diseases including epilepsy, ataxia, myoclonus, and psychiatric disorders. In recent years, a growing body of evidence from whole-genome sequencing and whole-exome sequencing had identified several ASD susceptibility genes of potassium channels in ASD subjects. Genetically dysfunction of potassium channels may be involved in altered neuronal excitability and abnormal brain function in the pathogenesis of ASD. This review summarizes current findings on the features of ASD-risk genes (KCND2, KCNQ2, KCNQ3, KCNH5, KCNJ2, KCNJ10, and KCNMA1) and further expatiate their potential role in the pathogenicity of ASD.
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