BIP! Finder - E1784K, the most common Brugada syndrome and long-QT syndrome type 3 mutant, disrupts sodium channel inactivation through two separate mechanisms

2020 • E1784K, the most common Brugada syndrome and long-QT syndrome type 3 mutant, disrupts sodium channel inactivation through two separate mechanisms

Authors: Colin H. Peters; Abeline R. Watkins; Olivia L. Poirier; Peter C. Ruben

Venue: Journal of General Physiology

Type: Publication

Abstract: Inheritable and de novo variants in the cardiac voltage-gated sodium channel, Nav1.5, are responsible for both long-QT syndrome type 3 (LQT3) and Brugada syndrome type 1 (BrS1). Interestingly, a subset of Nav1.5 variants can cause both LQT3 and BrS1. Many of these variants are found in channel structures that form the channel fast inactivation machinery, altering the rate, voltage dependence, and completeness of the fast inactivation process. We used a series of mutants at position 1784 to show that the most common inheritable Nav1.5 variant, E... (read more)

Impact:

1.0690445E-8 2.9820488E-9 11 10

/ Attention: 0 98

Topics: Biophysics Cell biology Genetics

DOI: 10.1085/jgp.202012595

External links: Crossref OpenAIRE

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