Term Name: developmental and epileptic encephalopathy 1
Synonyms: DEE1, early infantile epileptic encephalopathy 1, X-linked infantile spasm syndrome 1
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.
Ontology: Human Disease [DOID:0080468]   ( DOID:0080468 )

Relationships
is a type of: developmental and epileptic encephalopathy X-linked recessive disease