Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort

Brugada syndrome and p.E61X_RANGRF

(2013) Oscar Campuzano et al.   Cardiology Journal

High prevalence of genetic variants previously associated with Brugada syndrome in new exome data

(2013) B Risgaard et al.   CLINICAL GENETICS

A Missense Mutation in the Sodium Channel β2 Subunit RevealsSCN2Bas a New Candidate Gene for Brugada Syndrome

(2013) Helena Riuró et al.   HUMAN MUTATION

A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome

(2013) Anna Tarradas et al.   PLoS One

The genetic component of Brugada syndrome

(2013) Morten W. Nielsen et al.   Frontiers in Physiology

Brugada Syndrome 2012

(2012) Paola Berne et al.   CIRCULATION JOURNAL

Brugada Syndrome

(2012) Yuka Mizusawa et al.   Circulation-Arrhythmia and Electrophysiology

p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient

(2012) Lucía Núñez et al.   HEART RHYTHM

Spectrum and Prevalence of Mutations Involving BrS1- Through BrS12-Susceptibility Genes in a Cohort of Unrelated Patients Referred for Brugada Syndrome Genetic Testing

(2012) Lia Crotti et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes

(2012) John R. Giudicessi et al.   Translational Research

A Novel Nonsense Variant in Nav1.5 Cofactor MOG1 Eliminates Its Sodium Current Increasing Effect and May Increase the Risk of Arrhythmias

(2011) Morten S. Olesen et al.   CANADIAN JOURNAL OF CARDIOLOGY

Recommendations for the Use of Genetic Testing in the Clinical Evaluation of Inherited Cardiac Arrhythmias Associated with Sudden Cardiac Death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society Joint Position Paper

(2011) Michael H. Gollob et al.   CANADIAN JOURNAL OF CARDIOLOGY

Electrocardiographic Characteristics and SCN5A Mutations in Idiopathic Ventricular Fibrillation Associated With Early Repolarization

(2011) Hiroshi Watanabe et al.   Circulation-Arrhythmia and Electrophysiology

HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)

(2011) M. J. Ackerman et al.   EUROPACE

Describing structural changes by extending HGVS sequence variation nomenclature

(2011) Peter E.M. Taschner et al.   HUMAN MUTATION

Identification of Six Novel SCN5A Mutations in Japanese Patients With Brugada Syndrome

(2011) Tadashi Nakajima et al.   International Heart Journal

Brugada Syndrome Caused by a Large Deletion in SCN5A Only Detected by Multiplex Ligation-Dependent Probe Amplification

(2011) LUCAS J. EASTAUGH et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

Sick Sinus Syndrome, Progressive Cardiac Conduction Disease, Atrial Flutter and Ventricular Tachycardia Caused by a Novel SCN5A Mutation

(2010) Anders G. Holst et al.   CARDIOLOGY

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test

(2009) Jamie D. Kapplinger et al.   HEART RHYTHM

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

(2009) Jamie D. Kapplinger et al.   HEART RHYTHM

The genetic basis of Brugada syndrome: A mutation update

(2009) Paula L. Hedley et al.   HUMAN MUTATION

The genetic basis of long QT and short QT syndromes: A mutation update

(2009) Paula L. Hedley et al.   HUMAN MUTATION

Novel sodium channel SCN5A mutations in Brugada syndrome patients from Greece

(2009) Christina-Maria Kotta et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Genetic Modulation of Brugada Syndrome by a Common Polymorphism

(2009) ERIC LIZOTTE et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY