Features include always present findings: Seizure, Low muscle tone (hypotonia), EEG with burst suppression, and Epileptic encephalopathy and others; and common findings: Scarring in the brain (gliosis), Respiratory failure, CNS demyelination, and Simplified gyral pattern. 10 total HPO annotations.

GLS encodes glutaminase (669 aa). Catalyzes the first reaction in the primary pathway for the renal catabolism of glutamine. Plays a role in maintaining acid-base homeostasis. Highest expression in Artery Aorta (108.5 TPM) and Brain Cerebellar Hemisphere (92.8 TPM).

Developmental and epileptic encephalopathy, 71 is associated with mutations in the GLS gene on chromosome 2.

The GLS protein participates in glutamine + H2O = glutamate + NH4+ (GLS), TP53 stimulates GLS2 transcription, and Transcriptional Regulation by MECP2 pathways.

GLS is classified as a druggable target (Enzyme category) with score 0.7.

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

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 71 has been reported in the published literature.

Phenotype severity distribution: 5 always present features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for developmental and epileptic encephalopathy, 71.

60 publications have been identified in PubMed for developmental and epileptic encephalopathy, 71. Research spans Epidemiology / Natural History (28%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (15%).