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Human Disease
developmental and epileptic encephalopathy 98
- Term ID
- DOID:0070384
- Synonyms
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- DEE98
- early infantile epileptic encephalopathy 98
- Definition
- A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23. https://pubmed.ncbi.nlm.nih.gov/33880529/
- References
- Ontology
- Human Disease ( DOID:0070384 )
- is a type of
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