Trafficking and functional expression of cardiac Na+ channels

LJ Herfst, MB Rook, HJ Jongsma - Journal of molecular and cellular …, 2004 - Elsevier
Voltage-gated Na+ channels are essential for the amplitude and upstroke velocity of the
cardiac action potential, which are important determinants for impulse propagation and …

Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia

TP Nguyen, DW Wang, TH Rhodes… - Circulation …, 2008 - Am Heart Assoc
Mutations in SCN5A encoding the principal Na+ channel α-subunit expressed in human
heart (NaV1. 5) have recently been linked to an inherited form of dilated cardiomyopathy …

SCN2A channelopathies: Mechanisms and models

UBS Hedrich, S Lauxmann, H Lerche - Epilepsia, 2019 - Wiley Online Library
Variants in the SCN 2A gene, encoding the voltage‐gated sodium channel NaV1. 2, cause a
variety of neuropsychiatric syndromes with different severity ranging from self‐limiting …

The cardiac CaMKII-Nav1. 5 relationship: From physiology to pathology

M Takla, CLH Huang, K Jeevaratnam - Journal of molecular and cellular …, 2020 - Elsevier
The SCN5A gene encodes Na v 1.5, which, as the cardiac voltage-gated Na+ channel's
pore-forming α subunit, is crucial for the initiation and propagation of atrial and ventricular …

Cardiac sodium channelopathies

AS Amin, A Asghari-Roodsari, HL Tan - Pflügers Archiv-European Journal …, 2010 - Springer
Cardiac sodium channel are protein complexes that are expressed in the sarcolemma of
cardiomyocytes to carry a large inward depolarizing current (I Na) during phase 0 of the …

SCN5A (NaV1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance

BM Kroncke, AM Glazer, DK Smith… - Circulation: Genomic …, 2018 - Am Heart Assoc
Background: Accurately predicting the impact of rare nonsynonymous variants on disease
risk is an important goal in precision medicine. Variants in the cardiac sodium channel …

[HTML][HTML] The role of mutations in the SCN5A gene in cardiomyopathies

E Zaklyazminskaya, S Dzemeshkevich - Biochimica et Biophysica Acta …, 2016 - Elsevier
The SCN5A gene encodes the alpha-subunit of the Na v 1.5 ion channel protein, which is
responsible for the sodium inward current (I Na). Since 1995 several hundred mutations in …

Development of a patient-derived induced pluripotent stem cell model for the investigation of SCN5A-D1275N-related cardiac sodium channelopathy

M Hayano, T Makiyama, T Kamakura… - Circulation …, 2017 - jstage.jst.go.jp
Background: The SCN5A gene encodes the α subunit of the cardiac voltage-gated sodium
channel, Na V 1.5. The missense mutation, D1275N, has been associated with a range of …

A common SCN5A variant alters the responsiveness of human sodium channels to class I antiarrhythmic agents

M Shuraih, T Ai, M Vatta, Y Sohma… - Journal of …, 2007 - Wiley Online Library
Background: The potential pathophysiological role of common SCN5A polymorphisms in
cardiac arrhythmias has been increasingly recognized. However, little is known about the …

Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel

AAM Wilde, R Brugada - Circulation research, 2011 - Am Heart Assoc
Variations in the gene encoding for the major sodium channel (Nav1. 5) in the heart,
SCN5A, has been shown to cause a number of arrhythmia syndromes (with or without …