Associated Papers
Clinical presentation and outcomes of patients with biallelic SCN5A variants: A systematic review.
Surget E et al.
Heart Rhythm O2, 2025
SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications.
Kobayashi Takahashi Y et al.
Epilepsia Open, 2025
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Type 3 long QT syndrome: Is the effectiveness of treatment with beta-blockers population-specific?
Hermida A et al.
Heart Rhythm, 2024
Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights.
Frosio A et al.
International Journal of Molecular Sciences, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
The Genetics of Brugada Syndrome.
Cerrone M et al.
Annual Review of Genomics and Human Genetics, 2022
Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review.
Oliva A et al.
Journal of Clinical Medicine, 2022
Distinct Features of Probands With Early Repolarization and Brugada Syndromes Carrying SCN5A Pathogenic Variants.
Zhang ZH et al.
Journal of the American College of Cardiology, 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
An autoantibody profile detects Brugada syndrome and identifies abnormally expressed myocardial proteins.
Chatterjee D et al.
European Heart Journal, 2020
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
Dysfunctional Nav1.5 channels due to SCN5A mutations.
Han D et al.
Experimental Biology and Medicine (maywood, N.j.), 2018
SCN5A Variants: Association With Cardiac Disorders.
Li W et al.
Frontiers in Physiology, 2018
A Brugada syndrome proband with compound heterozygote SCN5A mutations identified from a Chinese family in Singapore.
Tan BY et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2016
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
Leong IU et al.
Bmc Medical Genetics, 2015
Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.
Selga E et al.
Plos One, 2015
[Clinical polymorphisms and approaches of arrhythmias treatment in a family with δKPQ1505-1507 deletion in SCN5A gene].
Saber S et al.
Vestnik Rossiiskoi Akademii Meditsinskikh Nauk, 2014
A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.
Tarradas A et al.
Plos One, 2013
Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation.
Hong K et al.
European Journal of Human Genetics : Ejhg, 2012
The β1-subunit of Na(v)1.5 cardiac sodium channel is required for a dominant negative effect through α-α interaction.
Mercier A et al.
Plos One, 2012
State of the art in forensic investigation of sudden cardiac death.
Oliva A et al.
The American Journal of Forensic Medicine and Pathology, 2011
Genetics of Brugada syndrome.
Campuzano O et al.
Current Opinion in Cardiology, 2010
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger JD et al.
Heart Rhythm, 2010
Phenotypic overlap of cardiac sodium channelopathies: individual-specific or mutation-specific?
Makita N
Circulation Journal : Official Journal of the Japanese Circulation Society, 2009
Brugada syndrome: recent advances and controversies.
Antzelevitch C et al.
Current Cardiology Reports, 2008
Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations.
Remme CA et al.
Trends in Cardiovascular Medicine, 2008
Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome.
Cordeiro JM et al.
Circulation, 2006
SCN5A channelopathies--an update on mutations and mechanisms.
Zimmer T et al.
Progress in Biophysics and Molecular Biology, 0
[Genetic and molecular basis for sodium channel-mediated Brugada syndrome].
Barajas-Martínez H et al.
Archivos De Cardiologia De Mexico, 0