| Metadata | |
|---|---|
| ID | DOID:0081118 |
| Name | 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/ |
| Xrefs | |
| Synonyms |
Benign Familial Infantile Seizures, 5 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |