Associated Papers
SCN5A missense variants and their contribution to deaths in Sudden Unexplained Nocturnal Death Syndrome (SUNDS).
Chaloemthanetphong A et al.
Forensic Science International. Genetics, 2025
Charge Reversal of the Uppermost Arginine in Sliding Helix S4-I Affects Gating of Cardiac Sodium Channel.
Kulichik OE et al.
International Journal of Molecular Sciences, 2025
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights.
Frosio A et al.
International Journal of Molecular Sciences, 2023
Familial trigeminal neuralgia - a systematic clinical study with a genomic screen of the neuronal electrogenisome.
Di Stefano G et al.
Cephalalgia : an International Journal of Headache, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Predicting changes to INa from missense mutations in human SCN5A.
Clerx M et al.
Scientific Reports, 2018
Next-generation sequencing of AV nodal reentrant tachycardia patients identifies broad spectrum of variants in ion channel genes.
Andreasen L et al.
European Journal of Human Genetics : Ejhg, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.
Christiansen SL et al.
European Journal of Human Genetics : Ejhg, 2016
Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.
Delio M et al.
Plos One, 2015
Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths.
Wang D et al.
Forensic Science International, 2014
Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation.
Olesen MS et al.
Heart Rhythm, 2014
High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation.
Olesen MS et al.
Circulation. Cardiovascular Genetics, 2012
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 2010
Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.
Fodstad H et al.
Annals of Medicine, 2004