Features include always present findings: Hypsarrhythmia, Loss of previously acquired skills (developmental regression), Hypoplasia of the corpus callosum, and Seizure and others.

GABRB1 encodes gamma-aminobutyric acid type A receptor subunit beta1 (474 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 Nucleus accumbens basal ganglia (2.9 TPM) and Brain Caudate basal ganglia (2.8 TPM).

Developmental and epileptic encephalopathy, 45 is associated with mutations in the GABRB1 gene on chromosome 4.

GABRB1 is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 0.3.

Genetic testing for GABRB1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 45 has been reported in the published literature.

Phenotype severity distribution: 9 always present features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 45.

108 publications have been identified in PubMed for developmental and epileptic encephalopathy, 45. Research spans Epidemiology / Natural History (30%), Review / Meta-Analysis (24%), and Basic Science / Preclinical (14%).