Features include always present findings: Seizure and Epileptic encephalopathy; and very common findings: Global developmental delay. 17 total HPO annotations.

GABRB2 encodes gamma-aminobutyric acid type A receptor subunit beta2 (512 aa). Beta 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 Cerebellar Hemisphere (74.3 TPM) and Brain Cerebellum (51.2 TPM).

Developmental and epileptic encephalopathy 92 is associated with mutations in the GABRB2 gene on chromosome 5.

GABRB2 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 0.6.

Genetic testing for GABRB2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy 92 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 1 very common feature, 1 common feature.

No clinical trials have been registered for developmental and epileptic encephalopathy 92.

144 publications have been identified in PubMed for developmental and epileptic encephalopathy 92. Kisho has analyzed 85 by research type. Research spans Review / Meta-Analysis (35%), Epidemiology / Natural History (21%), and Basic Science / Preclinical (18%).