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benign familial infantile seizures 5
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease benign familial infantile epilepsy
External Links
- Disease Ontology
- DOID:0081118
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UQD0 | Sodium channel protein type 8 subunit alpha |
