Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.,Molecular Genetics & Genomic Medicine

当前位置： X-MOL 学术 › Mol. Genet. Genomic Med. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Two novel KCNA1 variants identified in two unrelated Chinese families affected by episodic ataxia type 1 and neurodevelopmental disorders.
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-07-23 , DOI: 10.1002/mgg3.1434
Haiming Yuan _{1,

2} , Huihua Yuan ₁ , Qingming Wang _{1,

2} , Wanhua Ye _{1,

2} , Ruixia Yao _{1,

2} , Wanfang Xu _{1,

2} , Yanhui Liu _{1,

2}

Affiliation

Pathogenic KCNA1 variants have been linked to episodic ataxia type 1 (EA1), a rare neurological syndrome characterized by continuous myokymia and attacks of generalized ataxia that can be triggered by fever, abrupt movements, emotional stress, and fatigue. Currently, over 40 KCNA1 variants have been identified in individuals with EA1.

更新日期：2020-07-23

点击分享查看原文

点击收藏

公开下载

阅读更多本刊最新论文本刊介绍/投稿指南

全部期刊列表>>