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 99

Topics: Biophysics Cell biology Genetics

DOI: 10.1085/jgp.202012595

External links: Crossref OpenAIRE

BibTex PDF

Topic-specific impact indicators

Popularity:
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
Influence:
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
Citation Count:
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
Impulse:
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.