Ettore Piro, Rosaria Nardello, Elena Gennaro, Antonina Fontana, Maurizio Taglialatela, Giuseppe Donato Mangano, Giovanni Corsello, Salvatore Mangano
Benign familial neonatal epilepsy (BFNE) is caused, in about 5% of families, by mutations in the KCNQ3 gene encoding voltage-gated potassium channel subunits. Usually, newborns with BFNE show a normal neurological outcome, but recently, refractory seizures and/or developmental disability have been reported suggesting phenotype variability associated with KCNQ3-related BFNE. Here, we describe a proband from a BFNE family carrying a novel variant in the KCNQ3 gene. Regarding the paucity of data in the literature, we describe the presented case with a view to further establishing: (1) a genotype/phenotype correlation in order to define a BFNE phenotype associated with favourable outcome; (2) an electroclinical pattern associated with BFNE based on video-EEG recording; (3) appropriate first-line AEDs; and (4) the duration of AED treatment...
February 1, 2019: Epileptic Disorders: International Epilepsy Journal with Videotape