Human genes for developmental and epileptic encephalopathy 1
Developmental and epileptic encephalopathy 1 [DOID:0080468]
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.
Synonyms: developmental and epileptic encephalopathy 1, DOID:0080468, DEE1, early infantile epileptic encephalopathy 1, X-linked infantile spasm syndrome 1 ...