OBO ID: DOID:0080715 |
Term Name: | developmental and epileptic encephalopathy 82 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. https://pubmed.ncbi.nlm.nih.gov/31422819/ | ||
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Ontology: | Human Disease ( DOID:0080715 ) |
OTHER developmental and epileptic encephalopathy 82 PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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WT + MO1-got2a | standard conditions | van Karnebeek et al., 2019 |
PHENOTYPE
No data available
CITATIONS (1)
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