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Human Disease
developmental and epileptic encephalopathy 11
- Term ID
- DOID:0080421
- Synonyms
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- DEE11
- early infantile epileptic encephalopathy 11
- Definition
- A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24. https://www.ncbi.nlm.nih.gov/pubmed/19786696
- References
- Ontology
- Human Disease ( DOID:0080421 )
- is a type of
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