Anna Lauritano, Sebastien Moutton, Elena Longobardi, Frédéric Tran Mau-Them, Giusy Laudati, Piera Nappi, Maria Virginia Soldovieri, Paolo Ambrosino, Mauro Cataldi, Thibaud Jouan, Daphné Lehalle, Hélène Maurey, Christophe Philippe, Francesco Miceli, Antonio Vitobello, Maurizio Taglialatela
Objective: Heterozygous variants in KCNQ2 or, more rarely, KCNQ3 genes are responsible for early-onset developmental/epileptic disorders characterized by heterogeneous clinical presentation and course, genetic transmission, and prognosis. While familial forms mostly include benign epilepsies with seizures starting in the neonatal or early-infantile period, de novo variants in KCNQ2 or KCNQ3 have been described in sporadic cases of early-onset encephalopathy (EOEE) with pharmacoresistant seizures, various age-related pathological EEG patterns, and moderate/severe developmental impairment...
September 2019: Epilepsia Open