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developmental and epileptic encephalopathy 14
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080439
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002059 | Cerebral atrophy |
| HP:0006813 | Focal hemiclonic seizure |
| HP:0001252 | Hypotonia |
| HP:0011097 | Epileptic spasm |
| HP:0002521 | Hypsarrhythmia |
| HP:0000505 | Visual impairment |
| HP:0010821 | Focal emotional seizure with laughing |
| HP:0002376 | Developmental regression |
| HP:0012758 | Neurodevelopmental delay |
| HP:0001276 | Hypertonia |
