Condition: Brugada Syndrome (disorder)


rs12720441 in KCNH2 gene and Brugada Syndrome (disorder) PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 11997281 2002 Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.

PMID 22949429 2012 Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

rs1268070 in LINC02523;LOC105377986 gene and Brugada Syndrome (disorder) PMID 23872634 2013 Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

rs10428132 in SCN10A gene and Brugada Syndrome (disorder) PMID 23872634 2013 Through a genome-wide association study of 312 individuals with Brugada syndrome and 1,115 controls, we detected 2 significant association signals at the SCN10A locus (rs10428132) and near the HEY2 gene (rs9388451).

PMID 23872634 2013 Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

rs1060501135 in SCN5A gene and Brugada Syndrome (disorder) PMID 22789973 2012 Brugada syndrome 2012.

PMID 20129283 2010 An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

PMID 23872634 2013 Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

PMID 19843921 2009 Exercise-induced ECG changes in Brugada syndrome.

PMID 26173111 2015 Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.

PMID 29202755 2017 H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters.

PMID 17404158 2007 Clinical aspects and prognosis of Brugada syndrome in children.

PMID 20090423 2010 Impaired stretch modulation in potentially lethal cardiac sodium channel mutants.

PMID 9506831 1998 A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.

PMID 10772658 2000 "A revised view of cardiac sodium channel ""blockade"" in the long-QT syndrome."

PMID 9495298 1998 Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel.

PMID 19167409 2009 Differential modulation of late sodium current by protein kinase A in R1623Q mutant of LQT3.

PMID 15621041 2005 Intrinsic mechanism of the enhanced rate-dependent QT shortening in the R1623Q mutant of the LQT3 syndrome.

PMID 10618304 2000 Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit.

PMID 10961955 2000 The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge.

PMID 16379539 2005 Gene sequencing in neonates and infants with the long QT syndrome.

PMID 21321465 2011 Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.

PMID 11901046 2002 Natural history of Brugada syndrome: insights for risk stratification and management.

PMID 18452873 2008 Prevalence of early-onset atrial fibrillation in congenital long QT syndrome.

PMID 10973849 2000 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

PMID 10377081 1999 Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 12877697 2003 Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.

PMID 23631430 2013 Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

PMID 24871449 2014 High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.

PMID 18451998 2008 Of 41 E1784K carriers, 93% had LQT3, 22% had BrS, and 39% had sinus node dysfunction.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 10727653 2000 Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes.

PMID 24762805 2014 Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics.

PMID 19841300 2009 Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

PMID 14961552 2003 Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease.

PMID 19026623 2009 Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis.

PMID 10940383 2000 A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome.

PMID 23139254 2012 Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip.

PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

PMID 26798387 2016 Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome.

PMID 22247482 2012 A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 23195492 2012 Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

PMID 11804990 2002 Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.

PMID 17561957 2007 Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

PMID 22581653 2012 Paralogous annotation of disease-causing variants in long QT syndrome genes.

PMID 26283144 2015 Direct Measurement of Cardiac Na+ Channel Conformations Reveals Molecular Pathologies of Inherited Mutations.

PMID 17697823 2007 Comparison of long-term follow-up of electrocardiographic features in Brugada syndrome between the SCN5A-positive probands and the SCN5A-negative probands.

PMID 11823453 2002 Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.

PMID 16254012 2006 Long-QT syndrome-related sodium channel mutations probed by the dynamic action potential clamp technique.

PMID 18929331 2008 A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation.

PMID 11410597 2001 We report the analysis of two novel mutations on the same codon, Y1795C (LQT-3) and Y1795H (BrS), expressed in HEK 293 cells and characterized using whole-cell patch clamp procedures.

PMID 14990510 2004 Structural effects of an LQT-3 mutation on heart Na+ channel gating.

PMID 12522116 2003 A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.

PMID 21824921 2011 Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro.

PMID 26111534 2015 Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture.

PMID 23791817 2013 A transgenic zebrafish model of a human cardiac sodium channel mutation exhibits bradycardia, conduction-system abnormalities and early death.

PMID 24136861 2014 Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

PMID 21596231 2011 SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.

PMID 15890323 2005 Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations.

PMID 16643399 2006 Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation.

PMID 19251209 2009 Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.

PMID 20031634 2009 SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome.

PMID 12106943 2002 Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.

PMID 19862833 2009 The genetic basis of long QT and short QT syndromes: a mutation update.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 24363796 2013 Functional characterization of a novel frameshift mutation in the C-terminus of the Nav1.5 channel underlying a Brugada syndrome with variable expression in a Spanish family.

PMID 18551308 2008 Heterozygous nonsense SCN5A mutation W822X explains a simultaneous sudden infant death syndrome.

PMID 16239976 2005 A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state.

PMID 22899775 2012 Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block.

PMID 22370247 2012 Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation.

PMID 15671429 2005 Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.

PMID 9521325 1998 Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.

PMID 22739120 2012 Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits.

PMID 24529773 2014 Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS.

PMID 21273195 2011 Facilitatory and inhibitory effects of SCN5A mutations on atrial fibrillation in Brugada syndrome.

PMID 28341588 2017 Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.

PMID 28600387 2017 Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).

PMID 27930701 2016 Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

PMID 25194972 2014 Cardiac evaluation of pediatric relatives in sudden arrhythmic death syndrome: a 2-center experience.

PMID 18378609 2008 Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.

PMID 21840964 2011 A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.

PMID 15851228 2004 A novel mutation, R376H, in the first pore segment of SCN5A variably causes Brugada syndrome and/or conduction disease in a single family.

PMID 24295898 2014 Genetic analysis in a family affected by sick sinus syndrome may reduce the sudden death risk in a young aspiring competitive athlete.

PMID 23671135 2013 Sudden cardiac death with autopsy findings of uncertain significance: potential for erroneous interpretation.

PMID 16344400 2005 Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome.

PMID 28341781 2017 Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.

PMID 12693506 2003 Novel brugada SCN5A mutation leading to ST segment elevation in the inferior or the right precordial leads.

PMID 25650408 2015 Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.

PMID 24815523 2014 Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.

PMID 25179549 2014 Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.

PMID 26733869 2015 Mutations in the Voltage Sensors of Domains I and II of Nav1.5 that are Associated with Arrhythmias and Dilated Cardiomyopathy Generate Gating Pore Currents.

PMID 18048769 2008 Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia.

PMID 25904541 2015 Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

PMID 22373669 2012 Mortality of inherited arrhythmia syndromes: insight into their natural history.

PMID 23414114 2013 High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.

PMID 24951569 2014 The Brugada ECG and schizophrenia.

PMID 24573164 2014 Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.

PMID 17854786 2007 Here, we report the functional consequences of a novel missense SCN5A mutation, G1319V, identified in a BrS patient.

PMID 16039271 2005 Substitution of a conserved alanine in the domain IIIS4-S5 linker of the cardiac sodium channel causes long QT syndrome.

PMID 17698727 2007 Gating properties of SCN5A mutations and the response to mexiletine in long-QT syndrome type 3 patients.

PMID 24721456 2014 A comprehensive electrocardiographic, molecular, and echocardiographic study of Brugada syndrome: validation of the 2013 diagnostic criteria.

PMID 11029409 2000 The biophysical properties of the SCN5A mutation T1620M associated with Brugada syndrome were examined for defects in intermediate inactivation (I:(M)), a gating process in Na(+) channels with kinetic features intermediate between fast and slow inactivation.

PMID 11123251 2001 Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation.

PMID 10532948 1999 Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.

PMID 23785128 2013 Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

PMID 11827685 2002 A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease.

PMID 15520322 2004 Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations.

PMID 17897635 2007 A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia.

PMID 18361072 2008 A novel SCN5A deletion mutation in a child with ventricular tachycardia, recurrent aborted sudden death, and Brugada electrocardiographic pattern.

PMID 25829473 2016 The proband had a baseline electrocardiogram that showed Type 2 BrS changes, which escalated to a characteristic Type I BrS pattern during a treadmill test before polymorphic ventricular tachycardia onset at a cycle length of 250 ms. Mutational analysis across all 29 exons in SCN5A of the proband and first-degree relatives of the family revealed that the proband inherited a compound heterozygote mutation in SCN5A, specifically p.A226V and p.R1629X from each parent.

PMID 23420830 2013 MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.

PMID 12639704 2003 Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects.

PMID 22984773 2013 A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.

PMID 15023552 2004 A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs.

PMID 17088455 2006 Genotype-specific onset of arrhythmias in congenital long-QT syndrome: possible therapy implications.

PMID 12566525 2003 The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.

PMID 17905336 2007 Long QT and Brugada syndrome gene mutations in New Zealand.

PMID 12209021 2002 A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction.

PMID 21350584 2011 Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome.

PMID 12650885 2003 A novel LQT3 mutation implicates the human cardiac sodium channel domain IVS6 in inactivation kinetics.

PMID 22739120 2012 We aimed to characterize two BrS N-terminal mutations, R104W and R121W, a construct where this region was deleted, ΔNter, and a construct where only this region was present, Nter.

PMID 19606473 2009 The genetic basis of Brugada syndrome: a mutation update.

PMID 24529773 2014 Is sudden unexplained nocturnal death syndrome in Southern China a cardiac sodium channel dysfunction disorder?

PMID 20395683 2010 Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation.

PMID 16325048 2005 High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.

PMID 8917568 1996 Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome.

PMID 8620612 1996 Multiple mechanisms of Na+ channel--linked long-QT syndrome.

PMID 8541846 1995 Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.

PMID 14753626 2003 The implications of genetic mutations in the sodium channel gene (SCN5A).

PMID 24529773 2014 Three SCN5A mutations (V95I, R121Q, and R367H) have been previously implicated in BrS.

PMID 22028457 2011 Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 21483645 2011 Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

PMID 25741286 2015 Cellular hyper-excitability caused by mutations that alter the activation process of voltage-gated sodium channels.

PMID 22710484 2012 Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q.

PMID 22999724 2012 R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.

PMID 25210054 2014 Gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias.

PMID 22766342 2012 Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.

PMID 25624448 2015 Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy.

PMID 22717692 2012 Identification of a strong genetic background for progressive cardiac conduction defect by epidemiological approach.

PMID 10471492 1999 Cardiac conduction defects associate with mutations in SCN5A.

PMID 21193062 2011 A novel mechanism for LQT3 with 2:1 block: a pore-lining mutation in Nav1.5 significantly affects voltage-dependence of activation.

PMID 22090166 2012 Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay.

PMID 22529811 2012 Our aim was to functionally characterize two novel Na(v)1.5 mutations (A124D and V1378M) in BrS patients.

PMID 28782696 2017 Heritability in a SCN5A-mutation founder population with increased female susceptibility to non-nocturnal ventricular tachyarrhythmia and sudden cardiac death.

PMID 22840528 2012 Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.

PMID 17081365 2006 [Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617].

PMID 20448214 2010 Mechanistic links between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick sinus syndrome.

PMID 15665061 2005 Reduced voltage dependence of inactivation in the SCN5A sodium channel mutation delF1617.

PMID 14523039 2003 Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).

PMID 24388587 2014 Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort.

PMID 23936059 2013 Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations.

PMID 23538271 2013 We describe a family showing the association between Brugada syndrome and epilepsy in which a known mutation in the SCN5A gene (p.W1095X, c.3284G>A) was identified.

PMID 24606995 2014 Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.

PMID 27287068 2016 However, the SCN5A variants R568H and A993T can be classified as pathogenic LQTS3 causing mutations, while R222stop and R2012H are novel BrS causing mutations.

PMID 26467377 2016 p.Gln1507-Lys1508-Pro1509del mutation, p.Arg222Ter nonsense mutation, and p.Met1498Arg in LQTS, BrS, and SSS, respectively, are reported for the first time in the Iranian population.

PMID 22885917 2012 The diagnostic and therapeutic aspects of loss-of-function cardiac sodium channelopathies in children.

PMID 26392562 2015 SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.

PMID 29247119 2017 Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths.

PMID 24631775 2014 Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths.

PMID 24895455 2014 PDZ domain-binding motif regulates cardiomyocyte compartment-specific NaV1.5 channel expression and function.

PMID 15057319 2004 Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome.

PMID 23276942 2013 Biomarker discovery by plasma proteomics in familial Brugada Syndrome.

PMID 19808440 2009 Absence of pathognomonic or inflammatory patterns in cardiac biopsies from patients with Brugada syndrome.

PMID 23840796 2013 A heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome.

PMID 26304136 2015 Familial Paralysis of the Atrium Due to a Mutation in SCN5A.

PMID 22675453 2012 A proton leak current through the cardiac sodium channel is linked to mixed arrhythmia and the dilated cardiomyopathy phenotype.

PMID 15863661 2005 Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy.

PMID 15808832 2005 Cryptic 5' splice site activation in SCN5A associated with Brugada syndrome.