Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant

Trine Østergaard Nielsen,Morten Krogh Herlin,Karen Markussen Linnet,Sándor Beniczky,Mette Sommerlund,Jakob Bie Granild-Jensen,Pernille Axél Gregersen

European Journal of Medical Genetics（2022）

引用 3|浏览8

暂无评分

摘要

Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is a rare heritable form of epilepsy. It is characterized by hypermotor seizures occurring mainly during sleep. Seizures are typically abrupt in onset and offset and tend to increase in complexity and duration during the night.

查看译文

关键词

ADSHE,ADNFLE,Sleep-related hypermotor epilepsy,CHRNA4,Nocturnal epilepsy

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要