DISEASES

Disease-gene associations mined from literature

Human genes for early infantile epileptic encephalopathy 17

Early infantile epileptic encephalopathy 17 [DOID:0080450]

An early infantile epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13.

Synonyms:  early infantile epileptic encephalopathy 17,  DOID:0080450