Features include always present findings: Hypoplasia of the corpus callosum, Seizure, Global developmental delay, and Secondary microcephaly and others; and common findings: Status epilepticus, Cerebral cortical atrophy, and Frontotemporal cerebral atrophy.

GABRA5 encodes gamma-aminobutyric acid type A receptor subunit alpha5 (462 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 Nucleus accumbens basal ganglia (91.3 TPM) and Brain Anterior cingulate cortex BA24 (37.9 TPM).

Developmental and epileptic encephalopathy, 79 is associated with mutations in the GABRA5 gene on chromosome 15.

GABRA5 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 0.6.

Genetic testing for GABRA5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 79 has been reported in the published literature.

Phenotype severity distribution: 14 always present features, 3 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 79.

43 publications have been identified in PubMed for developmental and epileptic encephalopathy, 79. Research spans Epidemiology / Natural History (32%), Review / Meta-Analysis (27%), and Case Report / Case Series (12%).