Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy

Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy

Abstract We report the identification of a de novo GABRA1 (R214C) variant in a child with epileptic encephalopathy (EE), describe its functional characterization and pathophysiology, and evaluate its potential therapeutic options. The GABRA1 (R214C) variant was identified using whole exome sequencin...

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Bibliographic Details
Main Authors: Yun-Fei Bai, Michelle Chiu, Elizabeth S. Chan, Peter Axerio-Cilies, Jie Lu, Linda Huh, Mary B. Connolly, Ilaria Guella, Matthew J. Farrer, Zhi-Qing David Xu, Lidong Liu, Michelle Demos, Yu Tian Wang
Format: Article
Language:English
Published: BMC 2019-11-01
Series:Molecular Brain
Subjects:
GABA a receptor
Epileptic encephalopathy
Mutation
Therapeutic options
Online Access:http://link.springer.com/article/10.1186/s13041-019-0513-9

Internet

http://link.springer.com/article/10.1186/s13041-019-0513-9

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