Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.N406S
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SCN5A

NM_000335.5:p.N406S

Associated Papers

Biophysical mechanisms of myocardium sodium channelopathies.

Zaytseva AK et al.

Pflugers Archiv : European Journal of Physiology, 2024

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

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf

Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome.

Ishikawa T et al.

European Heart Journal, 2021

Structural Basis for Pore Blockade of the Human Cardiac Sodium Channel Nav 1.5 by the Antiarrhythmic Drug Quinidine*.

Li Z et al.

Angewandte Chemie (international Ed. in English), 2021

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S11

Experimental Models of Brugada syndrome.

Sendfeld F et al.

International Journal of Molecular Sciences, 2019

Predicting changes to INa from missense mutations in human SCN5A.

Clerx M et al.

Scientific Reports, 2018

30143662 (PubMed )
Supplement: 41598_2018_30577_MOESM1_ESM.pdf

Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.

Yamagata K et al.

Circulation, 2017

A Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG.

Turker I et al.

Plos One, 2016

p.Y1449C SCN5A mutation associated with overlap disorder comprising conduction disease, Brugada syndrome, and atrial flutter.

Hothi SS et al.

Journal of Cardiovascular Electrophysiology, 2015

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Loussouarn G et al.

Frontiers in Pharmacology, 2015

Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome.

Gütter C et al.

Frontiers in Physiology, 2013

State of the art in forensic investigation of sudden cardiac death.

Oliva A et al.

The American Journal of Forensic Medicine and Pathology, 2011

Phenotypic overlap of cardiac sodium channelopathies: individual-specific or mutation-specific?

Makita N

Circulation Journal : Official Journal of the Japanese Circulation Society, 2009

Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations.

Remme CA et al.

Trends in Cardiovascular Medicine, 2008

A paradoxical effect of lidocaine for the N406S mutation of SCN5A associated with Brugada syndrome.

Itoh H et al.

International Journal of Cardiology, 2007

Mutation-specific effects of lidocaine in Brugada syndrome.

Clancy CE et al.

International Journal of Cardiology, 2007

Brugada syndrome in Japan.

Hiraoka M

Circulation Journal : Official Journal of the Japanese Circulation Society, 2007

A novel missense mutation in the SCN5A gene associated with Brugada syndrome bidirectionally affecting blocking actions of antiarrhythmic drugs.

Itoh H et al.

Journal of Cardiovascular Electrophysiology, 2005

SCN5A channelopathies--an update on mutations and mechanisms.

Zimmer T et al.

Progress in Biophysics and Molecular Biology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."