DISEASES

Disease-gene associations mined from literature

Human genes for early infantile epileptic encephalopathy 34

Early infantile epileptic encephalopathy 34 [DOID:0080460]

An early infantile epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12.

Synonyms:  early infantile epileptic encephalopathy 34,  DOID:0080460