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Human Disease
developmental and epileptic encephalopathy 42
- Term ID
- DOID:0080454
- Synonyms
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- DEE42
- early infantile epileptic encephalopathy 42
- Definition
- A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/27476654
- References
- Ontology
- Human Disease ( DOID:0080454 )
- is a type of
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