OBO ID: DOID:0080445 |
Term Name: | developmental and epileptic encephalopathy 13 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13. (2) | ||
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Ontology: | Human Disease ( DOID:0080445 ) |
OTHER developmental and epileptic encephalopathy 13 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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