DISEASES

Disease-gene associations mined from literature

Human genes for early infantile epileptic encephalopathy 7

Early infantile epileptic encephalopathy 7 [DOID:0080462]

An early infantile epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13.

Synonyms:  early infantile epileptic encephalopathy 7,  DOID:0080462,  KCNQ2-related epileptic encephalopathy,  KCNQ2-related neonatal epileptic encephalopathy,  KCNQ2related epileptic encephalopathy ...