SCN5A-L256del and L1621F exhibit loss-of-function properties related to autosomal recessive congenital cardiac disorders presenting as sick sinus syndrome, dilated cardiomyopathy, and sudden cardiac death
Jiaying Shi, Xueqi Pan, Zhaokun Wang, Ming Yi, Shengyu Xie, Xinyue Zhang, Dachang Tao, Yuan Yang, Yunqiang Liu
Topics & Concepts
BiologyNav1.5Sodium channelPhenotypeDilated cardiomyopathySudden cardiac deathSick sinus syndromeCardiomyopathyLoss functionGeneticsMutationSudden deathInternal medicineHeart failureMedicineGeneSodiumOrganic chemistryChemistryCardiac electrophysiology and arrhythmiasIon channel regulation and functionCardiomyopathy and Myosin Studies