OBO ID: DOID:0080442 |
Term Name: | developmental and epileptic encephalopathy 41 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13. https://www.ncbi.nlm.nih.gov/pubmed/27476654 | ||
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Ontology: | Human Disease ( DOID:0080442 ) |
OTHER developmental and epileptic encephalopathy 41 PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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slc1a2bzh7/zh7 | standard conditions | Hotz et al., 2021 |
PHENOTYPE
No data available
CITATIONS (1)
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