OBO ID: DOID:0112214 |
Term Name: | developmental and epileptic encephalopathy 78 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12. (2) | ||
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Ontology: | Human Disease ( DOID:0112214 ) |
OTHER developmental and epileptic encephalopathy 78 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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