DISEASES

Disease-gene associations mined from literature

Human genes for early infantile epileptic encephalopathy 11

Early infantile epileptic encephalopathy 11 [DOID:0080421]

An early infantile epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24.

Synonyms:  early infantile epileptic encephalopathy 11,  DOID:0080421