Features include common findings: Bilateral tonic-clonic seizure, Atonic seizure, Global developmental delay, and Myoclonic seizure and others; and sometimes findings: Hypsarrhythmia and Sleep disturbance. 16 total HPO annotations.

GABRB3 encodes gamma-aminobutyric acid type A receptor subunit beta3 (473 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 Frontal Cortex BA9 (21.5 TPM) and Brain Cerebellar Hemisphere (16.5 TPM).

Developmental and epileptic encephalopathy, 43 is associated with mutations in the GABRB3 gene on chromosome 15.

GABRB3 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 0.4.

Genetic testing for GABRB3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 43 has been reported in the published literature.

Phenotype severity distribution: 8 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 43.

68 publications have been identified in PubMed for developmental and epileptic encephalopathy, 43. Research spans Epidemiology / Natural History (28%), Clinical Trial Publication (25%), and Basic Science / Preclinical (13%).