Human genes for developmental and epileptic encephalopathy 7
Developmental and epileptic encephalopathy 7 [DOID:0080462]
A developmental and 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: developmental and epileptic encephalopathy 7, DOID:0080462, early infantile epileptic encephalopathy 7, KCNQ2-related epileptic encephalopathy, KCNQ2-related neonatal epileptic encephalopathy ...