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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

2023Gene19 citationsDOI

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
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 | Litcius