A Novel Loss-of-Function Mutation in the NPRL3 Gene Identified in Chinese Familial Focal Epilepsy with Variable Foci

Familial focal epilepsy with variable foci is an autosomal dominant disorder characterized by partial epilepsy with variable foci. In this study, we report a six-generation with segregation of the mutation present in four generations Chinese family presenting with focal epilepsy with variable foci....

Full description

Saved in:
Bibliographic Details
Main Authors: Youzhi Li, Xu Zhao, Shanshan Wang, Ke Xu, Xin Zhao, Shanshan Huang, Suiqiang Zhu
Format: article
Language:EN
Published: Frontiers Media S.A. 2021
Subjects:
Online Access:https://doaj.org/article/567b048d43104f6ea99365744cb2a7d6
Tags: Add Tag
No Tags, Be the first to tag this record!