Effects of mexiletine on a race-specific mutation in Nav1. 5 associated with long QT syndrome

X Wu, Y Li, L Hong - Biophysical Journal, 2023 - cell.com
Mutations in cardiac Nav1. 5 have been associated with LQT syndrome, Brugada syndrome,
and sudden arrhythmia death syndrome. Genetic studies showed that Nav1. 5 mutations …

Effects of Mexiletine on a Race-specific Mutation in Nav1.5 Associated With Long QT Syndrome

X Wu, Y Li, L Hong - Frontiers in Physiology, 2022 - frontiersin.org
The voltage-gated sodium channel Nav1. 5 plays an essential role in the generation and
propagation of action potential in cardiomyocytes. Mutations in Nav1. 5 have been …

Cardiac sodium channel Nav1. 5 mutations and cardiac arrhythmia

W Song, W Shou - Pediatric cardiology, 2012 - Springer
As a major cardiac voltage-gated sodium channel isoform in the heart, the Nav1. 5 channel
is essential for cardiac action potential initiation and subsequent propagation throughout the …

Structure of human Nav1.5 reveals the fast inactivation-related segments as a mutational hotspot for the long QT syndrome

Z Li, X Jin, T Wu, X Zhao, W Wang… - Proceedings of the …, 2021 - National Acad Sciences
Nav1. 5 is the primary voltage-gated Na+ (Nav) channel in the heart. Mutations of Nav1. 5
are associated with various cardiac disorders exemplified by the type 3 long QT syndrome …

Long QT syndrome type 3 caused by a PY‐motif mutation leading to altered ubiquitylation and increased expression of Nav1. 5 in knock‐in mice

JS Rougier, M Albesa, CA Remme, J Ogrodnik… - 2012 - Wiley Online Library
Background Congenital long QT syndrome type 3 (LQT3) is a cardiac arrhythmias caused by
gain‐of‐function mutations in SCN5A, the gene encoding the sodium channel Nav1. 5. This …

The human Nav1. 5 F1486 deletion associated with long QT syndrome leads to impaired sodium channel inactivation and reduced lidocaine sensitivity

W Song, Y Xiao, H Chen, NM Ashpole… - The Journal of …, 2012 - Wiley Online Library
Key points• We investigated how the F1486 deletion LQT3 mutation impairs the functional
properties of the human cardiac voltage‐gated sodium channel (hNav1. 5) and alters action …

Depolarization of the conductance-voltage relationship in the NaV1.5 mutant, E1784K, is due to altered fast inactivation

CH Peters, A Yu, W Zhu, JR Silva, PC Ruben - PLoS One, 2017 - journals.plos.org
E1784K is the most common mixed long QT syndrome/Brugada syndrome mutant in the
cardiac voltage-gated sodium channel NaV1. 5. E1784K shifts the midpoint of the channel …

Nav1.5 mutations linked to dilated cardiomyopathy phenotypes: Is the gating pore current the missing link?

P Gosselin-Badaroudine, A Moreau, M Chahine - Channels, 2014 - Taylor & Francis
Nav1. 5 dysfunctions are commonly linked to rhythms disturbances that include type 3 long
QT syndrome (LQT3), Brugada syndrome (BrS), sick sinus syndrome (SSS) and conduction …

Nav1. 5/R1193Q polymorphism is associated with both long QT and Brugada syndromes

H Huang, J Zhao, FZ Barrane, J Champagne… - Canadian Journal of …, 2006 - Elsevier
Background Brugada syndrome (BS) and long QT syndrome (LQTS) are electrical disorders
with a genetic background. They are revealed on surface electrocardiograms as either right …

Biophysical mechanisms of myocardium sodium channelopathies

AK Zaytseva, OE Kulichik, AA Kostareva… - Pflügers Archiv-European …, 2024 - Springer
Genetic variants of gene SCN5A encoding the alpha-subunit of cardiac voltage-gated
sodium channel Nav1. 5 are associated with various diseases, including long QT syndrome …