| Metadata | |
|---|---|
| ID | DOID:0080439 |
| Name | developmental and 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. https://www.ncbi.nlm.nih.gov/pubmed/23086397 |
| Xrefs | |
| Synonyms |
DEE14 [EXACT] early infantile epileptic encephalopathy 14 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |