top of page
ABOUT GABA-A DISORDERS
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
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.
GABA-A Receptor Variants in Epilepsy
Structure of a human synaptic GABA-A receptor
GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants - Absalom - Journal of Neurochemistry - Wiley Online Library
bottom of page