OBO ID: DOID:0080462 |
Term Name: | developmental and epileptic encephalopathy 7 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/15249611 | ||
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Ontology: | Human Disease ( DOID:0080462 ) |
OTHER developmental and epileptic encephalopathy 7 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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