Associated Papers
Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?
van Deventer BS et al.
Forensic Science, Medicine, and Pathology, 2025
Pharmacologic Characterization of LTGO-33, a Selective Small Molecule Inhibitor of the Voltage-Gated Sodium Channel NaV1.8 with a Unique Mechanism of Action.
Gilchrist JM et al.
Molecular Pharmacology, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Identification of a novel Scn3b mutation in a Chinese Brugada syndrome pedigree: implications for Nav1.5 electrophysiological properties and intracellular distribution of Nav1.5 and Navβ3.
Fan J et al.
Frontiers in Cardiovascular Medicine, 2024
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
Genetic predictors of sick sinus syndrome.
Timasheva Y et al.
Molecular Biology Reports, 2021
Genetic insight into sick sinus syndrome.
Thorolfsdottir RB et al.
European Heart Journal, 2021
Whole-Exome Sequencing in Patients Affected by Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis Reveals New Variants Potentially Contributing to the Phenotype.
Fonseca DJ et al.
Pharmacogenomics and Personalized Medicine, 2021
Genome-wide association studies of cardiac electrical phenotypes.
Glinge C et al.
Cardiovascular Research, 2020
Sequence variants with large effects on cardiac electrophysiology and disease.
Norland K et al.
Nature Communications, 2019
PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.
van Setten J et al.
Nature Communications, 2018
Loss-of-function mutations of SCN10A encoding NaV1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease.
Nettuwakul C et al.
Scientific Reports, 2018
Common Coding Variants in SCN10A Are Associated With the Nav1.8 Late Current and Cardiac Conduction.
Macri V et al.
Circulation. Genomic and Precision Medicine, 2018
Homozygosity for the SCN10A Polymorphism rs6795970 Is Associated With Hypoalgesic Inflammatory Bowel Disease Phenotype.
Gonzalez-Lopez E et al.
Frontiers in Medicine, 2018
NaV channel variants in patients with painful and nonpainful peripheral neuropathy.
Wadhawan S et al.
Neurology. Genetics, 2017
Association of common and rare variants of SCN10A gene with sudden unexplained nocturnal death syndrome in Chinese Han population.
Zhang L et al.
International Journal of Legal Medicine, 2017
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
Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram.
Verweij N et al.
Human Molecular Genetics, 2016
Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.
Behr ER et al.
Cardiovascular Research, 2015
Common and rare variants in SCN10A modulate the risk of atrial fibrillation.
Jabbari J et al.
Circulation. Cardiovascular Genetics, 2015
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
Arking DE et al.
Nature Genetics, 2014
Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.
Friedrich C et al.
Embo Molecular Medicine, 2014
Single-nucleotide variations in cardiac arrhythmias: prospects for genomics and proteomics based biomarker discovery and diagnostics.
Abunimer A et al.
Genes, 2014
Genetic polymorphisms of SCN10A are associated with functional dyspepsia in Japanese subjects.
Arisawa T et al.
Journal of Gastroenterology, 2013
Blocking Scn10a channels in heart reduces late sodium current and is antiarrhythmic.
Yang T et al.
Circulation Research, 2012
Common genetic variation modulating cardiac ECG parameters and susceptibility to sudden cardiac death.
Kolder IC et al.
Journal of Molecular and Cellular Cardiology, 2012
Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science.
Denny JC et al.
Circulation, 2010
Several common variants modulate heart rate, PR interval and QRS duration.
Holm H et al.
Nature Genetics, 2010
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005