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Human Disease
developmental and epileptic encephalopathy 99
- Term ID
- DOID:0070385
- Synonyms
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- DEE99
- early infantile epileptic encephalopathy 99
- Definition
- A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/33880529/
- References
- Ontology
- Human Disease ( DOID:0070385 )
- is a type of
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