OBO ID: DOID:0080460 |
Term Name: | developmental and epileptic encephalopathy 34 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12. https://www.ncbi.nlm.nih.gov/pubmed/26333769 | ||
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Ontology: | Human Disease ( DOID:0080460 ) |
OTHER developmental and epileptic encephalopathy 34 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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