Is benign familial neonatal KCNQ2-related epilepsy always familially benign?


neonatal seizures
familial epilepsy
benign seizures
neonatal convulsions
KCNQ2 mutation
KCNQ3 mutation

How to Cite

Pavone, P., Praticò, A. D., Falsaperla, R., Striano, P., & Ruggieri, M. (2018). Is benign familial neonatal KCNQ2-related epilepsy always familially benign?. Journal of Pediatric and Neonatal Individualized Medicine (JPNIM), 7(2), e070221.


A 1-year-old infant was referred for a diagnostic work-up, due to a past history of generalized clonic seizures migrating from one side of the body to the other side, of short duration, and presenting in cluster, occurred in the first days of life. He is a component a large family in whom several members were diagnosed and described in a previous report as affected by benign familial neonatal epilepsy (BFNE). This family has been followed-up for three generations and examined by report carried out in a single center and a personal interview. In a recent revision of the family, some members do not share the classical features of BFNE: one had the seizures onset at 3 months, another presented complex febrile seizures with EEG anomalies, and one suffered from partial seizures lasting until the age of 10 years. Looking at the data drawn from this family, and those from the literature, the term “BFNE” should be used with caution.