Features include always present findings: Progressive microcephaly, Delayed speech and language development, Seizure, and Increased circulating lactate concentration and others; and common findings: Cerebellar vermis hypoplasia, Decreased body weight, Brain shrinkage (cerebral atrophy), and Spastic tetraplegia and others.

GOT2 encodes glutamic-oxaloacetic transaminase 2 (430 aa). Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). Highest expression in Muscle Skeletal (280.0 TPM) and Heart Left Ventricle (251.9 TPM).

Developmental and epileptic encephalopathy, 82 is associated with mutations in the GOT2 gene on chromosome 16.

The GOT2 protein participates in GOT2 transaminates OA and L-Glu, MPST transfers sulfur atom from 3MPYR to HSO3- to form S2O3(2-) and PYR, and MPST transfers sulfur atom from 3MPYR to form CysS248-MPST pathways.

GOT2 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for GOT2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 82 has been reported in the published literature.

Phenotype severity distribution: 9 always present features, 9 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 82.

54 publications have been identified in PubMed for developmental and epileptic encephalopathy, 82. Research spans Epidemiology / Natural History (40%), Clinical Trial Publication (19%), and Review / Meta-Analysis (17%).