SELF-LIMITED (FAMILIAL) INFANTILE EPILEPSY (SeLIE)

GENETICS

PATTERN OF INHERITANCE

Autosomal dominant with high penetrance or (if no family history), de novo.

KNOWN GENES

Pathogenic variants in PRRT2 account for most cases, with variants in SCN8A and SCN2A identified in some families.

FAMILY HISTORY OF SEIZURES/EPILEPSY

A family history of infantile seizures is required for diagnosis of self-limited familial infantile epilepsy.