benign familial neonatal epilepsy
Also written as: BFNE — Benign Familial Neonatal Epilepsy
An inherited epilepsy syndrome affecting newborns that typically resolves by 6 months of age with normal development.
Full Definition
Benign familial neonatal epilepsy (BFNE) is an autosomal dominant genetic epilepsy syndrome characterized by seizures beginning in the first days to weeks of life. Despite the early onset of seizures, affected infants typically develop normally and seizures usually cease by 6 months of age. The condition is caused by mutations in potassium channel genes, most commonly KCNQ2. Family history is often positive for similar neonatal seizures, and long-term prognosis is generally excellent.
Usage
Usage note: Emphasize 'benign' nature to distinguish from more severe neonatal epilepsies.
In Context
- "Genetic testing confirmed benign familial neonatal epilepsy with a KCNQ2 mutation." — Genetics consultation report
- "The family history of neonatal seizures suggested benign familial neonatal epilepsy." — NICU admission note