Sodium channel mutations and arrhythmias

Y Ruan, N Liu, SG Priori - Nature Reviews Cardiology, 2009 - nature.com
Since the identification of the first SCN5A mutation associated with long QT syndrome in
1995, several mutations in this gene for the α subunit of the cardiac sodium channel have …

Mechanisms of sodium channel inactivation

AL Goldin - Current opinion in neurobiology, 2003 - Elsevier
Rapid inactivation of sodium channels is crucial for the normal electrical activity of excitable
cells. There are many different types of inactivation, including fast, slow and ultra-slow, and …

Gene variant effects across sodium channelopathies predict function and guide precision therapy

A Brunklaus, T Feng, T Brünger, E Perez-Palma… - Brain, 2022 - academic.oup.com
Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)

DW Benson, DW Wang, M Dyment… - The Journal of …, 2003 - Am Soc Clin Investig
Sick sinus syndrome (SSS) describes an arrhythmia phenotype attributed to sinus node
dysfunction and diagnosed by electrocardiographic demonstration of sinus bradycardia or …

Structural basis of α-scorpion toxin action on Nav channels

T Clairfeuille, A Cloake, DT Infield, JP Llongueras… - Science, 2019 - science.org
INTRODUCTION Members of the voltage-gated sodium (Nav) channel family are critical
contributors to electrical signaling. Accordingly, they are targets of drugs, toxins, and …

High-throughput reclassification of SCN5A variants

AM Glazer, Y Wada, B Li, A Muhammad… - The American Journal of …, 2020 - cell.com
Partial or complete loss-of-function variants in SCN5A are the most common genetic cause
of the arrhythmia disorder Brugada syndrome (BrS1). However, the pathogenicity of SCN5A …

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 …

Anticancer drug oxaliplatin induces acute cooling-aggravated neuropathy via sodium channel subtype NaV1.6-resurgent and persistent current

R Sittl, A Lampert, T Huth, ET Schuy… - Proceedings of the …, 2012 - National Acad Sciences
Infusion of the chemotherapeutic agent oxaliplatin leads to an acute and a chronic form of
peripheral neuropathy. Acute oxaliplatin neuropathy is characterized by sensory …

Gender differences in clinical manifestations of Brugada syndrome

B Benito, A Sarkozy, L Mont, S Henkens… - Journal of the American …, 2008 - jacc.org
Objectives: We sought to assess differences in phenotype and prognosis between men and
women in a large population of patients with Brugada syndrome. Background: A male …

Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome

M Vatta, R Dumaine, G Varghese… - Human molecular …, 2002 - academic.oup.com
Sudden unexplained nocturnal death syndrome (SUNDS), a disorder found in southeast
Asia, is characterized by an abnormal electrocardiogram with ST-segment elevation in leads …