developmental and epileptic encephalopathy 7 (DOID:0080462)
Alliance: disease page
Synonyms: early infantile epileptic encephalopathy 7; KCNQ2-related epileptic encephalopathy; KCNQ2-related neonatal epileptic encephalopathy
Alt IDs: OMIM:613720, ORDO:439218
Definition: A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13.