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Symptoms which have been reported by some individuals or publications associated with this gene (some individuals may experience more than one, or none of these symptoms):

  • Epilepsy

  • Developmental delay

  • Intellectual disability

  • Dravet syndrome

  • West syndrome

  • Lennox-Gastaut syndrome

  • Autism

  • Hypotonia

  • Choreoathetoid movement


GABRA1‐related disorders: from genetic to functional pathways - Musto - Annals of Neurology - Wiley Online Library

Pharmacological chaperones restore proteostasis of epilepsy-associated GABAA receptor variants

Quantitative interactome proteomics identifies a proteostasis network for GABAA receptors


Pharmacological activation of ATF6 remodels the proteostasis network to rescue pathogenic GABAA receptors


Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies


Remodeling the endoplasmic reticulum proteostasis network restores proteostasis of pathogenic GABAA receptors


Differential Coassembly of α1-GABAARs Associated with Epileptic Encephalopathy


Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivity


GABAA Receptor Variants in Epilepsy


Clinical phenotypes of epilepsy associated with GABRA1 gene variants


A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro


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


Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation


GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients


SAHA enhances Proteostasis of epilepsy-associated α1(A322D)β2γ2 GABA(A) receptors


Combining valosin-containing protein (VCP) inhibition and suberanilohydroxamic acid (SAHA) treatment additively enhances the folding, trafficking, and function of epilepsy-associated γ-aminobutyric acid, type A (GABAA) receptors


Proteostasis regulators restore function of epilepsy-associated GABAA receptors


L-type Calcium Channel Blockers Enhance Trafficking and Function of Epilepsy-associated α1(D219N) Subunits of GABA(A) Receptors

Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human - PubMed (

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