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Human Disease
developmental and epileptic encephalopathy 5
- Term ID
- DOID:0080438
- Synonyms
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- DEE5
- early infantile epileptic encephalopathy 5
- Definition
- A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/20493457
- References
- Ontology
- Human Disease ( DOID:0080438 )
- is a type of
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