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Human Disease
developmental and epileptic encephalopathy 32
- Term ID
- DOID:0080416
- Synonyms
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- DEE32
- early infantile epileptic encephalopathy 32
- Definition
- A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13. https://www.ncbi.nlm.nih.gov/pubmed/25751627
- References
- Ontology
- Human Disease ( DOID:0080416 )
- is a type of
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