Features include always present findings: Bilateral tonic-clonic seizure, Intellectual disability, Febrile seizure (within the age range of 3 months to 6 years), and Global developmental delay; and common findings: Inability to walk, Low muscle tone (hypotonia), Infantile spasms, and Microcephaly and others. 26 total HPO annotations.

ATP6V1A encodes ATPase H+ transporting V1 subunit A (617 aa). Catalytic subunit of the V1 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 translocates protons. Highest expression in Brain Cerebellar Hemisphere (110.6 TPM) and Brain Frontal Cortex BA9 (104.8 TPM).

Developmental and epileptic encephalopathy 93 is associated with mutations in the ATP6V1A gene on chromosome 3.

The ATP6V1A protein participates in MITF-M-dependent ATP6V1A gene expression pathway.

ATP6V1A is classified as a druggable target (Enzyme and Transporter categories) with score 26.1.

Genetic testing for ATP6V1A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy 93 has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 9 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy 93.

137 publications have been identified in PubMed for developmental and epileptic encephalopathy 93. Research spans Review / Meta-Analysis (31%), Epidemiology / Natural History (22%), and Basic Science / Preclinical (19%).