OBO ID: DOID:0080454 |
Term Name: | developmental and epileptic encephalopathy 42 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0080454 ) |
OTHER developmental and epileptic encephalopathy 42 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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