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Human Disease
developmental and epileptic encephalopathy 52
- Term ID
- DOID:0080455
- Synonyms
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- DEE52
- early infantile epileptic encephalopathy 52
- Definition
- A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/19710327
- References
- Ontology
- Human Disease ( DOID:0080455 )
- is a type of
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