​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

• Dravet Syndrome

• Lennox-Gastaut syndrome

• Intellectual disability

• Dystonia

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Patient-derived iPS cell lines (in progress):

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GABRG1:  c.316 G>A,  p.A106T (plus isogenic control)

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Publications:

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Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome

 

Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity

 

Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy

 

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

 

GABAA Receptor Variants in Epilepsy

 

Proteostasis regulators restore function of epilepsy-associated GABAA receptors

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Epilepsy plus blindness in microdeletion of GABRA1 and GABRG2 in mouse and human 

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4-phenylbutyrate promoted wildtype GABAA receptor trafficking, reduced Endoplasmic reticulum stress and mitigated seizures in Gabrg2+/Q390X mice associated with Dravet syndrome