SELF LIMITED FAMILIAL AND NON-FAMILIAL INFANTILE EPILEPSY

GENETICS

PATTERN OF INHERITANCE

Autosomal dominant inheritance with high penetrance.

KNOWN GENES

There are a number of gene mutations associated with this syndrome including mutations in PRRT2 (accounts for >90% of cases), SCN2A, KCNQ2 and KCNQ3. SCN2A mutations also occur in self-limited familial neonatal-infantile epilepsy and KCNQ2 and KCNQ3 mutations also occur in self-limited familial neonatal epilepsy

FAMILY HISTORY OF SEIZURES/EPILEPSY

A family history of neonatal or infantile seizures is present in familial cases.