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
Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.
Misra K et al.
International Journal of Molecular Sciences, 2024
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
Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.
Bar O et al.
Frontiers in Neurology, 2023
Atrial fibrillation-a complex polygenetic disease.
Andersen JH et al.
European Journal of Human Genetics : Ejhg, 2021
Putative role of Brugada syndrome genes in familial atrial fibrillation.
Maltese PE et al.
European Review for Medical and Pharmacological Sciences, 2019
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.
Campuzano O et al.
Human Mutation, 2019
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
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
NaV channel variants in patients with painful and nonpainful peripheral neuropathy.
Wadhawan S et al.
Neurology. Genetics, 2017
KIR2DL5 mutation and loss underlies sporadic dermal neurofibroma pathogenesis and growth.
Anastasaki C et al.
Oncotarget, 2017
Numerous Brugada syndrome-associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality.
Ghouse J et al.
Genetics in Medicine : Official Journal of the American College of Medical 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
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
Absence of a Primary Role for SCN10A Mutations in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy.
Te Riele AS et al.
Journal of Cardiovascular Translational Research, 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
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
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 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