Features include always present findings: Generalized-onset seizure, Low muscle tone (hypotonia), Myoclonic seizure, and Profound global developmental delay and others; and common findings: Bilateral tonic-clonic seizure, Thin corpus callosum, and Dilation of Virchow-Robin spaces. 18 total HPO annotations.

GLUL encodes glutamate-ammonia ligase (373 aa). Glutamine synthetase that catalyzes the ATP-dependent conversion of glutamate and ammonia to glutamine. Highest expression in Nerve Tibial (1,171 TPM) and Adipose Visceral Omentum (590.0 TPM).

Developmental and epileptic encephalopathy 116 is associated with mutations in the GLUL gene on chromosome 1.

The GLUL protein participates in Insulin Glulisine (Apidra) and glutamate + NH4+ + ATP = glutamine + ADP + orthophosphate [GLUL] pathways.

GLUL is classified as a druggable target (Druggable Genome and Enzyme categories) with score 3.7.

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

Biomarker and diagnostic research for developmental and epileptic encephalopathy 116 has been reported in the published literature.

Phenotype severity distribution: 7 always present features, 3 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy 116.

10 publications have been identified in PubMed for developmental and epileptic encephalopathy 116. Research spans Review / Meta-Analysis (40%), Epidemiology / Natural History (30%), and Diagnostic / Biomarker (10%).