Distinct Functional Alterations and Therapeutic Options of Two Pathological De Novo Variants of the T292 Residue of GABRA1 Identified in Children with Epileptic Encephalopathy and Neurodevelopmental Disorders

Distinct Functional Alterations and Therapeutic Options of Two Pathological De Novo Variants of the T292 Residue of GABRA1 Identified in Children with Epileptic Encephalopathy and Neurodevelopmental Disorders

Mutations of GABA<sub>A</sub>R have reportedly led to epileptic encephalopathy and neurodevelopmental disorders. We have identified a novel de novo T292S missense variant of GABRA1 from a pediatric patient with grievous global developmental delay but without obvious epileptic activity. T...

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Bibliographic Details
Main Authors: Wenlin Chen, Yang Ge, Jie Lu, Joshua Melo, Yee Wah So, Romi Juneja, Lidong Liu, Yu Tian Wang
Format: Article
Language:English
Published: MDPI AG 2022-03-01
Series:International Journal of Molecular Sciences
Subjects:
epileptic encephalopathy
neurodevelopmental disorders
de novo missense variants
GABRA1 T292 residue
channel gating properties
therapeutic options
Online Access:https://www.mdpi.com/1422-0067/23/5/2723

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