developmental and epileptic encephalopathy 1 (DOID:0080468)
Alliance: disease page
Synonyms: DEE1; early infantile epileptic encephalopathy 1; X-linked infantile spasm syndrome 1
Alt IDs: OMIM:308350
Definition: A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21.