DISEASES

Disease-gene associations mined from literature

Human genes for early infantile epileptic encephalopathy 57

Early infantile epileptic encephalopathy 57 [DOID:0080284]

An early infantile epileptic encephalopathy that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31.

Synonyms:  early infantile epileptic encephalopathy 57,  DOID:0080284