Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome.
Sayako HiroseTakashi MurayamaNaoyuki TetsuoMinako HoshiaiHiroaki KiseMasao YoshinagaHisaaki AokiMegumi FukuyamaYimin WuriyanghaiYuko WadaKoichi KatoTakeru MakiyamaTakeshi KimuraTakashi SakuraiMinoru HorieNagomi KurebayashiSeiko OhnoPublished in: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology (2021)
Loss-of-function RYR2 mutations may be implicated in various types of arrhythmias including LQTS, VF, and scTdP, depending on alteration of the channel activity. Search of RYR2 mutations in IPAS patients clinically different from CPVT will be a useful strategy to effectively discover loss-of-function RYR2 mutations.