其他Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
期刊:Epilepsia发表年份:2017作者:John J Millichap; Francesco Miceli; Michela De Maria; Cynthia Keator; Nishtha Joshi; Baouyen Tran; Maria Virginia Soldovieri; Paolo Ambrosino; Vandana Shashi; Mohamad A Mikati; Edward C Cooper; Maurizio Taglialatela
