Term Name: developmental and epileptic encephalopathy 14
Synonyms: DEE14, early infantile epileptic encephalopathy 14
Definition: 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.
Ontology: Human Disease [DOID:0080439]   ( DOID:0080439 )

Relationships
is a type of: autosomal dominant disease developmental and epileptic encephalopathy