DISEASES

Disease-gene associations mined from literature

Human genes for early infantile epileptic encephalopathy 14

Early infantile epileptic encephalopathy 14 [DOID:0080439]

An early infantile epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34.

Synonyms:  early infantile epileptic encephalopathy 14,  DOID:0080439