Human genes for developmental and epileptic encephalopathy 14
Developmental and epileptic encephalopathy 14 [DOID:0080439]
A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34.
Synonyms: developmental and epileptic encephalopathy 14, DOID:0080439, DEE14, early infantile epileptic encephalopathy 14