Term Name: | developmental and epileptic encephalopathy 14 |
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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 ) |