A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review

A novel SEMA6B variant causes adult-onset progressive myoclonic epilepsy-11 in a Chinese family: A case report and literature review

This study describes a patient with progressive myoclonic epilepsy-11 (EPM-11), which follows autosomal dominant inheritance caused by a novel SEMA6B variant. Most patients develop this disease during infancy or adolescence with action myoclonus, generalized tonic-clonic seizures (GTCS), and progres...

Full description

Bibliographic Details
Main Authors: Yirao Chen, Xingyan Yang, Xinxiang Yan, Lu Shen, Jifeng Guo, Qian Xu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Genetics
Subjects:
progressive myoclonic epilepsy
adult onset
SEMA6B
missense variant
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1110310/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1110310/full

Similar Items