Features include common findings: Bilateral tonic-clonic seizure, Narrow mouth, Nystagmus, and Intellectual disability and others; and sometimes findings: Focal impaired awareness seizure, Generalized non-motor (absence) seizure, 2-3 toe cutaneous syndactyly, and Long fingers and others. 24 total HPO annotations.

GABRA3 encodes gamma-aminobutyric acid type A receptor subunit alpha3 (492 aa). Alpha subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain. Highest expression in Brain Frontal Cortex BA9 (20.7 TPM) and Brain Anterior cingulate cortex BA24 (13.6 TPM).

Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features is associated with mutations in the GABRA3 gene on chromosome X.

GABRA3 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 0.6.

Genetic testing for GABRA3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features has been reported in the published literature.

Phenotype severity distribution: 5 common features.

No clinical trials have been registered for epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features.

142 publications have been identified in PubMed for epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features. Kisho has analyzed 107 by research type. Research spans Basic Science / Preclinical (34%), Case Report / Case Series (30%), and Epidemiology / Natural History (16%).