Article
Functional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2.
Circulation. Genomic and precision medicine - 1 Dec 2025
Vanoye Carlos G, Desai Reshma R, John Jordan D, Hoffman Steven C, Fink Nicolas, Zhang Yue, Venkatesh Omkar G, Roe Jonathan, Adusumilli Sneha, Jairam Nirvani P, Sanders Charles R, Gordon Adam S, George Alfred L
Abstract excerpt
BACKGROUND: Congenital long-QT syndrome is most often associated with pathogenic variants in KCNQ1 encoding the pore-forming voltage-gated potassium channel subunit (KCNQ1) of the slow delayed rectifier current (IKs). Generation of IKs requires assembly of KCNQ1 with an auxiliary subunit (KCNE1) encoded by KCNE1, which is also associated with long-QT syndrome, but the causality of autosomal dominant disease is...
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