Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate

Abstract Background Cys‐loop receptors control neuronal excitability in the brain and their dysfunction results in numerous neurological disorders. Recently, six missense variants in GABRA2, a member of this family, have been associated with early infantile epileptic encephalopathy (EIEE). We identi...

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Bibliographic Details
Main Authors: Alba Sanchis‐Juan, Marcia A. Hasenahuer, James A. Baker, Amy McTague, Katy Barwick, Manju A. Kurian, Sofia T. Duarte, NIHR BioResource, Keren J. Carss, Janet Thornton, F. Lucy Raymond
Format: Article
Language:English
Published: Wiley 2020-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Cys‐loop receptor
epileptic encephalopathy
GABRA2
protein structural analysis
whole‐genome sequencing
Online Access:https://doi.org/10.1002/mgg3.1106

Internet

https://doi.org/10.1002/mgg3.1106

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