A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy
一种新的纯合 KCNQ3 功能丧失变异导致无综合征智力障碍和新生儿发病的药物依赖性癫痫
期刊:Epilepsia Open
影响因子:2.8
doi:10.1002/epi4.12353
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