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benign familial infantile seizures 3
Summary
- Synonym
-
- Benign Familial Infantile Seizures, 3
- benign familial neonatal-infantile seizures
- 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 mutations in the SCN2A gene on chromosome 2q24.
- Super Class
- autosomal dominant disease benign familial infantile epilepsy
External Links
- Disease Ontology
- DOID:0081116
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q99250 | Sodium channel protein type 2 subunit alpha |
