Features include always present findings: Absent speech, Inability to walk, Infantile spasms, and Epileptic encephalopathy and others; and common findings: Poor head control, Bilateral tonic-clonic seizure, Hypsarrhythmia, and Focal clonic seizure and others. 19 total HPO annotations.

GABBR2 encodes gamma-aminobutyric acid type B receptor subunit 2 (941 aa). Component of a heterodimeric G-protein coupled receptor for GABA, formed by GABBR1 and GABBR2. Highest expression in Brain Frontal Cortex BA9 (84.0 TPM) and Brain Cortex (64.2 TPM).

Developmental and epileptic encephalopathy, 59 is associated with mutations in the GABBR2 gene on chromosome 9.

GABBR2 is classified as a druggable target (Druggable Genome, G Protein Coupled Receptor, and Ion Channel categories) with score 3.9.

Genetic testing for GABBR2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 59 has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 11 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 59.

70 publications have been identified in PubMed for developmental and epileptic encephalopathy, 59. Research spans Epidemiology / Natural History (31%), Review / Meta-Analysis (20%), and Clinical Trial Publication (14%).