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Human Disease
developmental and epileptic encephalopathy 13
- Term ID
- DOID:0080445
- Synonyms
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- DEE13
- early infantile epileptic encephalopathy 13
- Definition
- A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13. (2)
- References
- Ontology
- Human Disease ( DOID:0080445 )
- is a type of
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