SELF-LIMITED NEONATAL SEIZURES AND SELF-LIMITED FAMILIAL NEONATAL EPILEPSY

GENETICS

PATTERN OF INHERITANCE

Autosomal dominant inheritance patterns are seen (sometimes with incomplete penetrance) in self-limited familial neonatal epilepsy. Self-limited neonatal seizures may be due to similar genetic etiologies to self-limited familial neonatal epilepsy, but occurring in a de novo fashion.

KNOWN GENES

Mutations in KCNQ2 are the most common genetic etiology for these syndromes, with mutations in KCNQ3 also reported. Rarely this syndrome has been seen in families with chromosomal inversions.

FAMILY HISTORY OF SEIZURES/EPILEPSY

A family history of neonatal, neonatal-infantile or infantile seizures is required for self-limited familial neonatal epilepsy. No family history of these epilepsies is found in self-limited neonatal seizures.