GABA-A receptor disorders are caused by variants in one or more of the GABA-A genes.  There are various symptoms of a GABA-A disorder.  These symptoms are not experienced by all individuals. 

 

Symptoms may include:

• Developmental delay (including global developmental delay)

• Epilepsy (including Dravet Syndrome, Lennox-Gastaut Syndrome, and Treatment Resistant Epilepsy)

• Intellectual disability (mild to severe)

• Hypotonia

• Dyspraxia

• Movement disorders (including dystonia, apraxia, choreoathetosis)

• Cortical-Visual Impairment

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Please see our individual pages for each GABA-A gene under Variants on top menu, for a more specific list of symptoms which have been reported for each gene.

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GABA-A Receptor Variants in Epilepsy

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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

 

Structure of a human synaptic GABA-A receptor

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GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants - Absalom - Journal of Neurochemistry - Wiley Online Library

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