Associated Papers
Whole-exome sequencing in obstructive coronary artery disease identifies rare and novel variants in cardiac arrhythmia and pulmonary arterial hypertension-associated genes.
Ullah MF et al.
Biomolecules & Biomedicine, 2026
Phenotypic Diversity Caused by the DES Missense Mutation p.R127P (c.380G>C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly Defect.
Ebrahim MA et al.
Circulation. Genomic and Precision Medicine, 2025
SCN5A missense variants and their contribution to deaths in Sudden Unexplained Nocturnal Death Syndrome (SUNDS).
Chaloemthanetphong A et al.
Forensic Science International. Genetics, 2025
Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?
Hanna EM et al.
Plos One, 2025
Biophysical mechanisms of myocardium sodium channelopathies.
Zaytseva AK et al.
Pflugers Archiv : European Journal of Physiology, 2024
Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.
Alkhamis FA et al.
Functional & Integrative Genomics, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
van der Schoot V et al.
European Journal of Human Genetics : Ejhg, 2022
Pregnancy in women with Brugada syndrome: Is there an increased arrhythmia risk? A case-series report.
van der Crabben SN et al.
Journal of Cardiovascular Electrophysiology, 2022
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
The role of sodium channels in sudden unexpected death in pediatrics.
Rochtus AM et al.
Molecular Genetics & Genomic Medicine, 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
Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.
Son MJ et al.
Journal of Korean Medical Science, 2018
Sudden infant death syndrome and inherited cardiac conditions.
Baruteau AE et al.
Nature Reviews. Cardiology, 2017
A Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG.
Turker I et al.
Plos One, 2016
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
Yavarna T et al.
Human Genetics, 2015
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
Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.
Hoshi M et al.
Circulation. Cardiovascular Genetics, 2014
Unexpected α-α interactions with NaV1.5 genetic variants in Brugada syndrome.
Abriel H et al.
Circulation. Cardiovascular Genetics, 2014
CaMKII-dependent regulation of cardiac Na(+) homeostasis.
Grandi E et al.
Frontiers in Pharmacology, 2014
Brugada syndrome and pregnancy: highlights on antenatal and prenatal management.
Giambanco L et al.
Case Reports in Obstetrics and Gynecology, 2014
Loss-of-function sodium channel mutations in infancy: a pattern unfolds.
Chockalingam P et al.
Circulation, 2012
Cardiac ion channelopathies and the sudden infant death syndrome.
Wilders R
Isrn Cardiology, 2012
Cardiac ion channel mutations in the sudden infant death syndrome.
Klaver EC et al.
International Journal of Cardiology, 2011
[108th Scientific Meeting of the Japanese Society of Internal Medicine: educational lecture: 3. Diagnosis and treatment of Japanese patients with Brugada syndrome].
Horie M
Nihon Naika Gakkai Zasshi. the Journal of the Japanese Society of Internal Medicine, 2011
The cardiac sodium channel is post-translationally modified by arginine methylation.
Beltran-Alvarez P et al.
Journal of Proteome Research, 2011
Cardiac channelopathies and sudden infant death syndrome.
Tfelt-Hansen J et al.
Cardiology, 2011
A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.
Allegue C et al.
Electrophoresis, 2010
Characterization of a novel Nav1.5 channel mutation, A551T, associated with Brugada syndrome.
Chiang KC et al.
Journal of Biomedical Science, 2009
The long QT syndrome family of cardiac ion channelopathies: a HuGE review.
Modell SM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
Sudden cardiac death and inherited arrhythmia syndromes.
Sarkozy A et al.
Journal of Cardiovascular Electrophysiology, 2005
Genetic polymorphisms and haplotypes of the human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese and their association with arrhythmia.
Maekawa K et al.
Annals of Human Genetics, 2005
Brugada disease: chronology of discovery and paternity. Preliminary observations and historical aspects.
Riera AR et al.
Indian Pacing and Electrophysiology Journal, 2003
Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease.
Schulze-Bahr E et al.
Human Mutation, 2003
A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating.
Wehrens XH et al.
Human Mutation, 2003
Genetic control of sodium channel function.
Tan HL et al.
Cardiovascular Research, 2003
Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation.
Grant AO et al.
The Journal of Clinical Investigation, 2002
[Brugada's syndrome: epidemiology, risk stratification, and clinical management].
Grillo M et al.
Italian Heart Journal. Supplement : Official Journal of the Italian Federation of Cardiology, 2002
Brugada syndrome: in search of a genotype-phenotype relationship.
Smits JP et al.
Herzschrittmachertherapie & Elektrophysiologie, 2002
Natural history of Brugada syndrome: insights for risk stratification and management.
Priori SG et al.
Circulation, 2002
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.
Vatta M et al.
Human Molecular Genetics, 2002
Electrical heterogeneity within the ventricular wall.
Antzelevitch C et al.
Basic Research in Cardiology, 2001
Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G).
Baroudi G et al.
Circulation Research, 2001
The Brugada syndrome: diagnostic criteria and cellular mechanisms.
Antzelevitch C
European Heart Journal, 2001
Cardiac sodium channel and inherited arrhythmia syndromes.
Bezzina CR et al.
Cardiovascular Research, 2001
Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation.
Wan X et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2001
Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families.
Priori SG et al.
Circulation, 2000