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Human Disease
developmental and epileptic encephalopathy 59
- Term ID
- DOID:0080291
- Synonyms
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- DEE59
- early infantile epileptic encephalopathy 59
- Definition
- A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/25262651
- References
- Ontology
- Human Disease ( DOID:0080291 )
- is a type of
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