DISEASES

Disease-gene associations mined from literature

Human genes for early infantile epileptic encephalopathy 3

Early infantile epileptic encephalopathy 3 [DOID:0080440]

An early infantile epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15.

Synonyms:  early infantile epileptic encephalopathy 3,  DOID:0080440