Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome.
Taisuke IshikawaHiroki KimotoHiroyuki MishimaKenichiro YamagataSoshiro OgataYoshiyasu AizawaKenshi HayashiHiroshi MoritaTadashi NakajimaYukiko NakanoSatoshi NagaseNobuyuki MurakoshiShinya KowaseKimie OhkuboTakeshi AibaShimpei MorimotoSeiko OhnoShiro KamakuraAkihiko NogamiMasahiko TakagiMatilde KarakachoffChristian DinaJean-Jacques SchottKoh-Ichiro YoshiuraMinoru HorieWataru ShimizuKunihiro NishimuraKengo F KusanoNaomasa MakitaPublished in: European heart journal (2021)
In vitro functional validation is key to classifying the pathogenicity of SCN5A VUSs and for risk stratification of genetic predictors of LAEs. Functionally proven LOF-SCN5A mutations are genetic burdens of sudden death in BrS, but evidence for other BrS-associated genes is elusive.