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Human Disease
developmental and epileptic encephalopathy 14
- Term ID
- DOID:0080439
- Synonyms
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- 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. https://www.ncbi.nlm.nih.gov/pubmed/23086397
- References
- Ontology
- Human Disease ( DOID:0080439 )
- is a type of
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