Features include always present findings: Hypothermia, Seizure, Global developmental delay, and Chorea and others; and common findings: Microcephaly, Status epilepticus, Low muscle tone (hypotonia), and Autistic behavior. 17 total HPO annotations.

GABRA2 encodes gamma-aminobutyric acid type A receptor subunit alpha2 (451 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 (11.9 TPM) and Brain Nucleus accumbens basal ganglia (10.7 TPM).

Developmental and epileptic encephalopathy, 78 is associated with mutations in the GABRA2 gene on chromosome 4.

The GABRA2 protein participates in GABR heteropentamers:GABA transport Cl- from extracellular region to cytosol and MECP2 regulates transcription of genes involved in GABA signaling pathways.

GABRA2 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 0.3.

Genetic testing for GABRA2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 78 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 4 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 78.

66 publications have been identified in PubMed for developmental and epileptic encephalopathy, 78. Research spans Epidemiology / Natural History (58%), Review / Meta-Analysis (11%), and Basic Science / Preclinical (9%).