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benign familial infantile seizures 6
Summary
- Synonym
-
- Autosomal dominant nocturnal frontal lobe epilepsy
- Benign Familial Infantile Seizures, 6
- nocturnal frontal lobe epilepsy-4
- 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 CHRNA2 gene on chromosome 8p21.
- Super Class
- autosomal dominant disease benign familial infantile epilepsy
External Links
- Disease Ontology
- DOID:0081119
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 42920 | nAChRbeta2 | nicotinic Acetylcholine Receptor beta2 |
