developmental and epileptic encephalopathy 78 (DOID:0112214)
Alliance: disease page
Synonyms: DEE78; early infantile epileptic encephalopathy 78
Alt IDs: OMIM:618557
Definition: A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12.