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Human Disease
developmental and epileptic encephalopathy 112
- Term ID
- DOID:0051084
- Synonyms
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- Definition
- A developmental and epileptic encephalopathy that is characterized by a wide range of seizure types, including focal and generalized seizures and that has_material_basis_in heterozygous mutation in the KCNH5 gene on chromosome 14q23. https://pubmed.ncbi.nlm.nih.gov/36307226/
- References
- Ontology
- Human Disease ( DOID:0051084 )
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Zebrafish Models