SELF-LIMITED (FAMILIAL) INFANTILE EPILEPSY (SeLIE)

OVERVIEW

Self-limited infantile epilepsy (SeLIE) and self-limited familial infantile epilepsy (SeLFIE) have the same genetic causes, but de novo pathogenic variants are responsible when there is no family history. Focal seizures begin between age 3-20 months of age. Seizures can be frequent, the infant usually behaves normally between seizures and seizures remit without impact on development. This syndrome also encompasses the entity 'infantile convulsions choreo-athetosis' where individuals with certain pathogenic gene variants can have infantile seizures with movement disorder.

Clinical context

SeLIE is relatively common, accounting for 7%–9% of all epilepsies beginning prior to 2 years of age. Focal seizures begin between 3-20 months of age (peak 6 months). Pregnancy and birth history are unremarkable. Head size and neurological examination are normal. Development is normal. Seizures may be frequent at onset but usually remit within 1 year from the onset. A minority of individuals may have epilepsy persisting into later life. Some patients (with PRRT2 pathogenic variants) may develop paroxysmal kinesiogenic dyskinesia in later life.

CAUTION Developmental delay or regression consider other infantile epilepsy etiologies or syndromes.