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.

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.

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Implantable defibrillators versus medical therapy for cardiac channelopathies Implantable defibrillators versus medical therapy for cardiac channelopathies Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome Early Repolarization Syndrome; Mechanistic Theories and Clinical Correlates Next-Generation Sequencing in Post-mortem Genetic Testing of Young Sudden Cardiac Death Cases The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison Highlights of the year in JACC 2012 Inherited ion channel diseases: a brief review Recent advances in genetic testing and counseling for inherited arrhythmias Genetics of Brugada syndrome Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death The disease-specific phenotype in cardiomyocytes derived from induced pluripotent stem cells of two long QT syndrome type 3 patients.Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome Risk Stratification and Therapeutic Approach in Brugada Syndrome.Short QT syndrome in pediatrics.Impact of genetics on the clinical management of channelopathies.Feasibility and outcomes of ajmaline provocation testing for Brugada syndrome in children in a specialist paediatric inherited cardiovascular diseases centre J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge Genetics of Brugada syndrome.Next-generation sequencing for the diagnosis of cardiac arrhythmia syndromes.Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome.Novel heterozygous mutation c.4282G>T in the SCN5A gene in a family with Brugada syndrome KATP Channels in the Cardiovascular System.Cardiac ion channelopathies and the sudden infant death syndrome Brugada Syndrome: Clinical, Genetic, Molecular, Cellular, and Ionic Aspects.Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.Genetic testing in heritable cardiac arrhythmia syndromes: differentiating pathogenic mutations from background genetic noise.The genetic component of Brugada syndrome hiPSC-derived cardiomyocytes from Brugada Syndrome patients without identified mutations do not exhibit clear cellular electrophysiological abnormalities The investigation of sudden arrhythmic death syndrome (SADS)-the current approach to family screening and the future role of genomics and stem cell technology.Brugada Syndrome and Early Repolarisation: Distinct Clinical Entities or Different Phenotypes of the Same Genetic Disease?Recent genetic discoveries implicating ion channels in human cardiovascular diseases SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients Brugada syndrome: an update.Genetic testing for inherited cardiac disease.Genetic biomarkers in Brugada syndrome.Drug-induced Brugada syndrome by noncardiac agents.Genetics of sudden cardiac death caused by ventricular arrhythmias.

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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.

Item

http://www.wikidata.org/entity/Q36761139

description

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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Spectrum and prevalence of mut ...... lications for genetic testing.

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Spectrum and prevalence of mut ...... lications for genetic testing.

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Spectrum and prevalence of mut ...... lications for genetic testing.

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Spectrum and prevalence of mut ...... plications for genetic testing

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Cherisse A Marcou

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David J Tester

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John R Giudicessi

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Melissa L Will

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Michael J Ackerman

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Savastano Simone

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P2860

Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

A map of human genome variation from population-scale sequencing

Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome

Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death

Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)

Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome

Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes

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

Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families.

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10.1016/J.JACC.2012.04.037

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Peter J. Schwartz

Argelia Medeiros-domingo

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2012-07-25T00:00:00Z

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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.

about

P2860

P2860

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.

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