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Human Disease
developmental and epileptic encephalopathy 24
- Term ID
- DOID:0080429
- Synonyms
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- DEE24
- early infantile epileptic encephalopathy 24
- Definition
- A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12. (2)
- References
- Ontology
- Human Disease ( DOID:0080429 )
- is a type of
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