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• W2224972073 abstract "Brugada syndrome (BrS) is an inherited lethal arrhythmic disorder characterized by syncope and sudden cardiac death from ventricular tachyarrhythmias. Here we identified a novel K817E mutation of SCN5A gene in a man with type 1 BrS electrocardiogram pattern using next-generation sequencing targeted for 73 cardiac disorder-related genes. SCN5A encodes the α-subunit of NaV1.5 voltage-gated Na(+) channel, and some of its mutations are linked to BrS. The proband had no mutation in any of the other arrhythmia-related genes sequenced.We investigated whether the K817E mutation causes a functional change of NaV1.5 channel responsible for the BrS phenotype.We compared the electrophysiological properties of the whole-cell currents mediated by wild-type and mutant channels heterologously expressed in human embryonic kidney 293 cells by using a voltage-clamp technique.The K817E mutation reduced the Na(+) current density by 39.0%-91.4% at membrane potentials from -55 to -5 mV. This reduction resulted from a ~24-mV positive shift in the voltage dependence of activation. The mutation also decelerated recovery from both fast and intermediate inactivation, whereas it had little effect on the cell surface expression, single-channel conductance, voltage-dependence of fast inactivation, entry into intermediate inactivation, use-dependent loss of channel availability, or closed-state inactivation.The K817E mutation of SCN5A gene leads to loss of function of NaV1.5 channel and may underlie the BrS phenotype of the proband." @default.
• W2224972073 created "2016-06-24" @default.
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• W2224972073 date "2016-05-01" @default.
• W2224972073 modified "2023-10-02" @default.
• W2224972073 title "SCN5A(K817E), a novel Brugada syndrome–associated mutation that alters the activation gating of NaV1.5 channel" @default.
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• W2224972073 doi "https://doi.org/10.1016/j.hrthm.2016.01.008" @default.
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