SELF-LIMITED FAMILIAL NEONATAL-INFANTILE EPILEPSY (SeLFNIE)

OVERVIEW

Self-limited familial neonatal-infantile epilepsy (SeLFNIE) is an autosomal dominant familial focal epilepsy syndrome with onset in the neonatal or infantile period in different family members. This syndrome can only be distinguished from the self-limited familial neonatal epilepsy or self-limited familial infantile epilepsy if there is a family history documenting onset of self-limited epilepsy in some family members in the neonatal period, and others in the infantile period.

Clinical context

This syndrome is characterized by the onset of focal seizures from day 1 to 23 months of life. Both sexes are affected equally. Antecedent and birth history are unremarkable. Head size and neurological examination are normal. Development is typically normal. Focal motor (tonic or clonic) seizures occur, and can recur over hours to days. Seizure frequency varies between individuals affected and seizures cease by age 12–24 months in all individuals.