SELF-LIMITED (FAMILIAL) NEONATAL EPILEPSY (SeLNE)

GENETICS

PATTERN OF INHERITANCE

Autosomal dominant inheritance (with incomplete penetrance), or de novo.

KNOWN GENES

Pathogenic variants in KCNQ2 are the most common cause, pathogenic variants in KCNQ3 and in SCN2A are also reported. De novo variants are responsible for the syndrome in neonates without family history.

FAMILY HISTORY OF SEIZURES/EPILEPSY

A family history of neonatal seizures is required for self-limited familial neonatal epilepsy (SeLFNE). Duration of the epilepsy varies in affected family members.