Varaico: Literature-Extracted Genetic Variants

Gene:SCN10A
Variant:p.R1268Q
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SCN10A

NM_006514.4:p.R1268Q

Associated Papers

Phenotypes in Brugada syndrome with different genotypes triggered by fever or inflammation using gene-edited iPSCs.

Li Y et al.

Stem Cell Research & Therapy, 2025

The Role of Human-Induced Pluripotent Stem Cells in Studying Cardiac Channelopathies.

Begovic M et al.

International Journal of Molecular Sciences, 2024

Cardiac arrhythmia and epilepsy genetic variants in sudden unexpected death in epilepsy.

Aschner A et al.

Frontiers in Neurology, 2024

Brugada Syndrome: More than a Monogenic Channelopathy.

Liantonio A et al.

Biomedicines, 2023

Genetic Profiling of Sodium Channels in Diabetic Painful and Painless and Idiopathic Painful and Painless Neuropathies.

Almomani R et al.

International Journal of Molecular Sciences, 2023

Automated Patch-Clamp and Induced Pluripotent Stem Cell-Derived Cardiomyocytes: A Synergistic Approach in the Study of Brugada Syndrome.

Melgari D et al.

International Journal of Molecular Sciences, 2023

Brugada Syndrome: Different Experimental Models and the Role of Human Cardiomyocytes From Induced Pluripotent Stem Cells.

Li Y et al.

Journal of the American Heart Association, 2022

Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.

Iop L et al.

Cells, 2021

iPSC-Cardiomyocyte Models of Brugada Syndrome-Achievements, Challenges and Future Perspectives.

Nijak A et al.

International Journal of Molecular Sciences, 2021

Brugada Syndrome: Oligogenic or Mendelian Disease?

Monasky MM et al.

International Journal of Molecular Sciences, 2020

A cellular model of Brugada syndrome with SCN10A variants using human-induced pluripotent stem cell-derived cardiomyocytes.

El-Battrawy I 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, 2019

The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.

Bonaventura J et al.

Archives of Medical Science : Ams, 2019

31110529 (PubMed )
Supplement: AMS-15-33903-S1.pdf

The Role of Voltage-Gated Sodium Channels in Pain Signaling.

Bennett DL et al.

Physiological Reviews, 2019

Yield of peripheral sodium channels gene screening in pure small fibre neuropathy.

Eijkenboom I et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

Deleterious protein-altering mutations in the SCN10A voltage-gated sodium channel gene are associated with prolonged QT.

Abou Ziki MD et al.

Clinical Genetics, 2018

Distinguishing pathogenic mutations from background genetic noise in cardiology: The use of large genome databases for genetic interpretation.

Ghouse J et al.

Clinical Genetics, 2018

Postmortem Genetic Testing for Cardiac Ion Channelopathies in Stillbirths.

Munroe PB et al.

Circulation. Genomic and Precision Medicine, 2018

Impact of Ancestral Differences and Reassessment of the Classification of Previously Reported Pathogenic Variants in Patients With Brugada Syndrome in the Genomic Era: A SADS-TW BrS Registry.

Chen CJ et al.

Frontiers in Genetics, 2018

Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.

Wu Y et al.

Forensic Sciences Research, 2017

Atrial arrhythmias in inherited arrhythmogenic disorders.

Hasdemir C

Journal of Arrhythmia, 2016

Novel SCN10A variants associated with Brugada syndrome.

Fukuyama M 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

The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance.

Gourraud JB et al.

Frontiers in Cardiovascular Medicine, 2016

Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.

Garcia J et al.

Frontiers in Cardiovascular Medicine, 2016

High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia.

Hasdemir C et al.

Heart Rhythm, 2015

Common and rare variants in SCN10A modulate the risk of atrial fibrillation.

Jabbari J et al.

Circulation. Cardiovascular Genetics, 2015

SCN10A/Nav1.8 modulation of peak and late sodium currents in patients with early onset atrial fibrillation.

Savio-Galimberti E et al.

Cardiovascular Research, 2014

Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.

Hu D et al.

Journal of the American College of Cardiology, 2014

Painful neuropathies: the emerging role of sodium channelopathies.

Brouwer BA et al.

Journal of the Peripheral Nervous System : Jpns, 2014

Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia.

Choi JS et al.

Brain : a Journal of Neurology, 2010

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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."