_:vb50946421 . _:vb50946421 "url:https://pubmed.ncbi.nlm.nih.gov/29668857/"^^ . _:vb50946421 . _:vb50946421 "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in ATP6V1A on chromosome 3q13.31."^^ . _:vb50946421 . _:vb50946421 . _:vb50946421 .