Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death.

No abstract is available for this paper.

• Publication year

  2010

• Venue

  Heart Rhythm

• Publication date

  2010-11-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1016/j.hrthm.2010.08.026PMID 20817017PMCID PMC2999985
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Dual Variation in SCN5A and CACNB2b Underlies the Development of Cardiac Conduction Disease without Brugada Syndrome

  2010cited by this paper
• J wave syndromes.

  2010cited by this paper
• Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes.

  2010cited by this paper
• An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

  2010cited by this paper
• A Common Single Nucleotide Polymorphism Can Exacerbate Long-QT Type 2 Syndrome Leading to Sudden Infant Death

  2010cited by this paper
• The genetic basis of Brugada syndrome: A mutation update

  2009cited by this paper
• Ventricular Fibrillation with Prominent Early Repolarization Associated with a Rare Variant of KCNJ8/KATP Channel

  2009influential reference
• Genetic Testing for Long-QT Syndrome: Distinguishing Pathogenic Mutations From Benign Variants

  2009influential reference
• Nitric Oxide Increases Cardiac IK1 by Nitrosylation of Cysteine 76 of Kir2.1 Channels

  2009cited by this paper
• A Mutation in the β3 Subunit of the Cardiac Sodium Channel Associated With Brugada ECG Phenotype

  2009cited by this paper
• Calcium channel diversity: multiple roles of calcium channel subunits.

  2009cited by this paper
• Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome.

  2009cited by this paper
• L-Type Calcium Channel C Terminus Autoregulates Transcription

  2009cited by this paper
• Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations

  2008cited by this paper
• Sudden cardiac arrest associated with early repolarization.

  2008cited by this paper
• New Determinant for the CaVβ2 Subunit Modulation of the CaV1.2 Calcium Channel*

  2008cited by this paper
• Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families.

  2008cited by this paper
• Augmentation of J waves and electrical storms in patients with early repolarization.

  2008cited by this paper
• A KCNE2 mutation in a patient with cardiac arrhythmia induced by auditory stimuli and serum electrolyte imbalance.

  2008cited by this paper
• Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition.

  2007cited by this paper
• 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

  2007influential reference
• Autoinhibitory control of the CaV1.2 channel by its proteolytically processed distal C‐terminal domain

  2006cited by this paper
• Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association.

  2005cited by this paper
• KCNH2-K897T Is a Genetic Modifier of Latent Congenital Long-QT Syndrome

  2005cited by this paper
• International Union of Pharmacology. XLVIII. Nomenclature and Structure-Function Relationships of Voltage-Gated Calcium Channels

  2005cited by this paper
• Brugada syndrome: report of the second consensus conference.

  2005cited by this paper
• Inaugural Article: Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

  2005cited by this paper
• Differential role of the alpha1C subunit tails in regulation of the Cav1.2 channel by membrane potential, beta subunits, and Ca2+ ions.

  2005cited by this paper
• Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

  2005cited by this paper
• Differential Role of the α1C Subunit Tails in Regulation of the Cav1.2 Channel by Membrane Potential, β Subunits, and Ca2+ Ions*

  2005cited by this paper
• Molecular heterogeneity of calcium channel beta-subunits in canine and human heart: evidence for differential subcellular localization.

  2004cited by this paper
• Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.

  2004cited by this paper
• The amino-acid mutational spectrum of human genetic disease

  2003cited by this paper
• A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization.

  2003cited by this paper
• Voltage-gated Mobility of the Ca2+ Channel Cytoplasmic Tails and Its Regulatory Role*

  2003cited by this paper
• International Union of Pharmacology: Approaches to the Nomenclature of Voltage-Gated Ion Channels

  2003cited by this paper
• Gene polymorphisms and cardiac arrhythmias.

  2003cited by this paper
• Proposed diagnostic criteria for the Brugada syndrome: consensus report.

  2002cited by this paper
• Structure-functional diversity of human L-type Ca2+ channel: perspectives for new pharmacological targets.

  2002cited by this paper
• Task Force on Sudden Cardiac Death, European Society of Cardiology.

  2002cited by this paper
• Task Force on Sudden Cardiac Death of the European Society of Cardiology.

  2001cited by this paper
• Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome.

  2001cited by this paper
• Evidence for a Single Nucleotide Polymorphism in the KCNQ1 Potassium Channel that Underlies Susceptibility to Life‐Threatening Arrhythmias

  2001cited by this paper
• Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

  1998cited by this paper
• Recommendations for a nomenclature system for human gene mutations

  1998cited by this paper

• Exploration of the Role of Cilostazol in Brugada Syndrome: Mechanisms, Therapeutic Potential, and Implications in the Prevention of Ventricular Arrhythmias

  2026cites this paper
• CACNA2D4 variants are associated with exertional heat stroke susceptibility

  2026cites this paper
• In silico modelling of multi-electrode arrays for enhancing cardiac drug testing on hiPSC-CM heterogeneous tissues.

  2025cites this paper
• Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus Statement

  2025cites this paper
• Proteomic profile of human sinoatrial and atrioventricular nodes in comparison to working myocardium

  2025cites this paper
• Sudden Cardiac Arrest and Death in Sports: An Updated Overview of Epidemiology, Etiologies, and Prevention Strategies, with Emphasis on Inherited Cardiomyopathies

  2025cites this paper
• Functional profiling of KCNE1 variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2

  2025cites this paper
• Successful Isoproterenol Treatment for Ventricular Fibrillation Storm in Early Repolarization Syndrome With SCN5A Mutation

  2025cites this paper
• Voltage-gated calcium channels (CaV) in GtoPdb v.2025.3

  2025cites this paper
• The Uncommon Phenomenon of Short QT Syndrome: A Scoping Review of the Literature

  2025cites this paper
• Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study

  2025cites this paper
• A CACNB2b variant causing reduced CaV1.2 current in monozygotic twin brothers with Brugada syndrome

  2025cites this paper
• Functional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2

  2025cites this paper
• Voltage-gated calcium channel α2δ-1 subunit is involved in the regulation of glucose-stimulated GLP-1 secretion in mice.

  2025cites this paper
• Manuscript Title: Brugada syndrome in sports cardiology: an expert opinion statement of the Italian society of sports cardiology (SICSport).

  2025cites this paper
• Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes.

  2025cites this paper
• Brugada syndrome

  2025cites this paper
• Targeting Calcium Regulation for Heart Failure and Arrhythmia Therapeutics: A Critical Review.

  2025cites this paper
• Novel heterozygous mutation of CACNA2D1 gene in a Chinese family with arrhythmia

  2024cites this paper
• Acquired Type 1 Brugada Syndrome Induced by Chronic High-Dose Kratom Use

  2024cites this paper
• Structural bases of inhibitory mechanism of CaV1.2 channel inhibitors

  2024cites this paper
• Primary Electrical Heart Disease—Principles of Pathophysiology and Genetics

  2024influential citation
• Pathogenesis and Clinical Characteristics of Hereditary Arrhythmia Diseases

  2024cites this paper
• Molecular Pathways and Animal Models of Arrhythmias.

  2024cites this paper
• Deletion of the α2δ‐1 calcium channel subunit increases excitability of mouse chromaffin cells

  2024cites this paper
• Identification of Arrhythmia-Associated Gene Mutations in Chinese Patients with Primary Electrical Disorders or Sudden Cardiac Death

  2024cites this paper
• Development of in-silico drug cardiac toxicity evaluation system with consideration of inter-individual variability

  2024cites this paper
• Patient-specific iPSC-derived cardiomyocytes reveal variable phenotypic severity of Brugada syndrome

  2023cites this paper
• Early Repolarization Augmentation Mimicking Pseudo-Infarction in a Patient With Diabetic Ketoacidosis and Normokalemia

  2023cites this paper
• Voltage-gated calcium channels (CaV) in GtoPdb v.2023.1

  2023cites this paper
• Functional identification of hot-spot mutations in cardiac calcium channel genes associated with the J wave syndromes

  2023influential citation
• Novel SCN5A frame‑shift mutation underlying in patient with idiopathic ventricular fibrillation manifested with J wave in inferior lead and prolonged S‑wave in precordial lead

  2023cites this paper
• Precision Medicine and Cardiac Channelopathies:Human iPSCs take the lead.

  2023cites this paper
• The importance of cache domains in α2δ proteins and the basis for their gabapentinoid selectivity

  2023cites this paper
• Sudden Cardiac Death Risk Stratification of the Early Repolarization Syndrome: An Updated Review of the Literature

  2023cites this paper
• Внезапная сердечная смерть у молодых мужчин: результаты экзомного секвенирования

  2023cites this paper
• X chromosome dosage and the genetic impact across human tissues

  2023cites this paper
• Canalopathies

  2023cites this paper
• CACNA1C-Related Channelopathies.

  2023cites this paper
• Pathophysiological Roles of Auxiliary Calcium Channel α2δ Subunits.

  2023cites this paper
• Case report: State-of-the-art risk-modifying treatment of sudden cardiac death in an asymptomatic patient with a mutation in the SCN5A gene and a review of the literature

  2023cites this paper
• Brugada Syndrome.

  2022cites this paper
• The road to the brain in Timothy syndrome is paved with enhanced CaV1.2 activation gating

  2022cites this paper
• Calcium dysregulation in heart diseases: targeting calcium channels to achieve a correct calcium homeostasis.

  2022cites this paper
• Whole exome sequencing of FFPE samples—expanding the horizon of forensic molecular autopsies

  2022cites this paper
• Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

  2022cites this paper
• The Genetics of Brugada Syndrome.

  2022cites this paper
• Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization

  2022cites this paper
• Role of Ca^2+ in healthy and pathologic cardiac function: from normal excitation–contraction coupling to mutations that cause inherited arrhythmia

  2022cites this paper
• A Preclinical Study on Brugada Syndrome with a CACNB2 Variant Using Human Cardiomyocytes from Induced Pluripotent Stem Cells

  2022cites this paper
• Regulation of cardiac ion channels by transcription factors: looking for new opportunities of druggable targets for the treatment of arrhythmias.

  2022cites this paper
• Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome

  2022cites this paper
• The Genetics and Epigenetics of Ventricular Arrhythmias in Patients Without Structural Heart Disease

  2022cites this paper
• Why Is There an Increased Risk for Sudden Cardiac Death in Patients With Early Repolarization Syndrome?

  2022cites this paper
• Relationship between the early repolarization pattern and a history of suicide attempts among drug‐free psychiatric patients

  2022cites this paper
• Recent Status in Brugada Syndrome.

  2022cites this paper
• The role of CACNA1C in Brugada syndrome: prevalence and phenotype of probands referred for genetic testing.

  2022cites this paper
• Sudden cardiac arrest in patients with schizophrenia: A population-based study of resuscitation outcomes and pre-existing cardiovascular disease

  2022cites this paper
• Concealed Substrates in Brugada Syndrome: Isolated Channelopathy or Associated Cardiomyopathy?

  2022cites this paper
• Disrupted Cav1.2 Selectivity Causes Overlapping Long QT and Brugada Syndrome Phenotypes in CACNA1C-E1115K iPS Cell Model.

  2022cites this paper
• Distinct Features of Probands With Early Repolarization and Brugada Syndromes Carrying SCN5A Pathogenic Variants.

  2021cites this paper
• Ventricular voltage‐gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation

  2021cites this paper
• Role of High Voltage-Gated Ca2+ Channel Subunits in Pancreatic β-Cell Insulin Release. From Structure to Function

  2021cites this paper
• Genetics of Sudden Cardiac Death, the Channelopathies: Today's Perspective and the Future

  2021cites this paper
• Voltage-gated calcium channels (CaV) in GtoPdb v.2021.3

  2021cites this paper
• Precision Medicine Approaches to Cardiac Arrhythmias: JACC Focus Seminar 4/5.

  2021cites this paper
• Commentary: Peptide-Based Targeting of the L-Type Calcium Channel Corrects the Loss-of-Function Phenotype of Two Novel Mutations of the CACNA1 Gene Associated With Brugada Syndrome

  2021cites this paper
• Update on the Molecular Genetics of Timothy Syndrome

  2021cites this paper
• Evaluating the Use of Genetics in Brugada Syndrome Risk Stratification

  2021cites this paper
• Towards Mutation-Specific Precision Medicine in Atypical Clinical Phenotypes of Inherited Arrhythmia Syndromes

  2021influential citation
• Right Ventricular Longitudinal Conduction Delay in Patients with Brugada Syndrome

  2021cites this paper
• Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants

  2021cites this paper
• Clinical and Functional Genetic Characterization of the Role of Cardiac Calcium Channel Variants in the Early Repolarization Syndrome

  2021influential citation
• Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function – Implications for Potential Therapies

  2021cites this paper
• Peptide-Based Targeting of the L-Type Calcium Channel Corrects the Loss-of-Function Phenotype of Two Novel Mutations of the CACNA1 Gene Associated With Brugada Syndrome

  2021cites this paper
• Differential intolerance to loss of function and missense mutations in genes that encode human matricellular proteins

  2021cites this paper
• Brugada syndrome and reduced right ventricular outflow tract conduction reserve: a final common pathway?

  2021cites this paper
• Aerobic exercise capacity of healthy young men with the early repolarization phenomenon

  2021cites this paper
• Overlap Arrhythmia Syndromes Resulting from Multiple Genetic Variations Studied in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes

  2021cites this paper
• Atrial Fibrillation in Inherited Channelopathies.

  2021cites this paper
• Rad Modulation of the L-type Calcium Channel Confers Systolic Advantage in the Heart

  2021cites this paper
• Susceptibility to Ventricular Arrhythmias Resulting from Mutations in FKBP1B, PXDNL, and SCN9A Evaluated in hiPSC Cardiomyocytes

  2020cites this paper
• Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong

  2020cites this paper
• Clinical Spectrum Of CACNA1C Variants, Revisited

  2020cites this paper
• Etiology of Sudden Death

  2020cites this paper
• Early Repolarization Pattern is Associated with Schizophrenia: A Single Center Experience in Japan

  2020cites this paper
• Brugada syndrome

  2020cites this paper
• Short QT Syndrome

  2020cites this paper
• Inherited Ventricular Arrhythmias, the Channelopathies and SCD; Current Knowledge and Future Speculation – Epidemiology and Basic Electrophysiology

  2020cites this paper
• Discovery and characterization of a monogenetic insult, caveolin-3-V37L, that precipitated oligo-proteomic perturbations governing repolarization reserve.

  2020cites this paper
• The relationship between J wave and ventricular tachycardia during Takotsubo cardiomyopathy

  2020cites this paper
• Explaining sudden infant death with cardiac arrhythmias: Complete exon sequencing of nine cardiac arrhythmia genes in Dutch SIDS cases highlights new and known DNA variants.

  2020cites this paper
• Early Repolarization Pattern and Suicidal Risks: A Single Center Case-Control Study.

  2020cites this paper
• Transmural conduction time in an early repolarization syndrome model

  2020cites this paper
• Autoantibody Signature in Cardiac Arrest

  2020cites this paper
• A missense mutation in the RSRSP stretch of Rbm20 causes dilated cardiomyopathy and atrial fibrillation in mice

  2020cites this paper
• Brugada syndrome: A comprehensive review of pathophysiological mechanisms and risk stratification strategies

  2020cites this paper
• The Many Faces of Early Repolarization Syndrome:A Single Center Case-Series.

  2020cites this paper
• Calcium Handling Defects and Cardiac Arrhythmia Syndromes

  2020cites this paper
• Role of Non-Coding Variants in Brugada Syndrome

  2020cites this paper