DISEASES

Disease-gene associations mined from literature

Human genes for early infantile epileptic encephalopathy 1

Early infantile epileptic encephalopathy 1 [DOID:0080468]

An early infantile epileptic encephalopathy characterized by X-linked recessive inheritance that has_material_basis_in mutation in the ARX gene on chromosome Xp21.

Synonyms:  early infantile epileptic encephalopathy 1,  DOID:0080468,  X-linked infantile spasm syndrome 1,  Xlinked infantile spasm syndrome 1