Novel Truncating and Missense Variants in SEMA6B in Patients With Early-Onset Epilepsy

Novel Truncating and Missense Variants in SEMA6B in Patients With Early-Onset Epilepsy

Progressive myoclonic epilepsy (PME) is a rare neurodegenerative disease, characterized by myoclonic seizures and tonic clonic seizures, with genetical and phenotypical heterogeneity. The semaphorin 6B (SEMA6B) gene has been recently reported a causal gene of PME. Independent studies are warranted t...

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Bibliographic Details
Main Authors: Song Xiaozhen, Yuan Fan, Yuan Fang, Lan Xiaoping, Jia Jia, Xu Wuhen, Tang Xiaojun, Shen Jun, Chen Yucai, Zhang Hong, He Guang, Wu Shengnan
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Cell and Developmental Biology
Subjects:
SEMA6B
epilepsy
nonsense
gene
missense variant
Online Access:https://www.frontiersin.org/articles/10.3389/fcell.2021.633819/full

Internet

https://www.frontiersin.org/articles/10.3389/fcell.2021.633819/full

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