Search Ontology:
Human Disease
benign familial infantile seizures 5
- Term ID
- DOID:0081118
- Synonyms
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- Benign Familial Infantile Seizures, 5
- Definition
- A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/23086396/
- References
- Ontology
- Human Disease ( DOID:0081118 )
- is a type of
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| SCN8A | Seizures, benign familial infantile, 5 | benign familial infantile seizures 5 | 617080 |
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Zebrafish Models
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