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

Piero Pavone, Andrea D. Praticò, Raffaele Falsaperla, Pasquale Striano, Martino Ruggieri

Abstract


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.


Keywords


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

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