Features include always present findings: Delayed speech and language development, Delayed ability to walk, Focal impaired awareness seizure, and Seizure and others; and common findings: Bilateral tonic-clonic seizure, Delayed ability to roll over, Hypsarrhythmia, and Poor suck and others.

ATP6V0A1 encodes ATPase H+ transporting V0 subunit a1 (837 aa). Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that transports protons across cellular membranes. Highest expression in Brain Cerebellar Hemisphere (186.8 TPM) and Brain Cerebellum (183.0 TPM).

Developmental and epileptic encephalopathy 104 is associated with mutations in the ATP6V0A1 gene on chromosome 17.

ATP6V0A1 is classified as a druggable target (Enzyme and Transporter categories) with score 5.2.

Genetic testing for ATP6V0A1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy 104 has been reported in the published literature.

Phenotype severity distribution: 6 always present features, 12 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy 104.

19 publications have been identified in PubMed for developmental and epileptic encephalopathy 104. Research spans Case Report / Case Series (32%), Basic Science / Preclinical (26%), and Epidemiology / Natural History (26%).