Inherited calcium channelopathies in the pathophysiology of arrhythmias

Ryanodine Receptor S2808 Phosphorylation in Heart Failure

(2012) Donald M. Bers   CIRCULATION RESEARCH

Viral Gene Transfer Rescues Arrhythmogenic Phenotype and Ultrastructural Abnormalities in Adult Calsequestrin-Null Mice With Inherited Arrhythmias

(2012) Marco Denegri et al.   CIRCULATION RESEARCH

Abnormal Termination of Ca 2+ Release Is a Common Defect of RyR2 Mutations Associated With Cardiomyopathies

(2012) Yijun Tang et al.   CIRCULATION RESEARCH

Somatic mosaicism contributes to phenotypic variation in Timothy syndrome

(2011) Susan P. Etheridge et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Mutation-Linked Defective Interdomain Interactions Within Ryanodine Receptor Cause Aberrant Ca 2+ Release Leading to Catecholaminergic Polymorphic Ventricular Tachycardia

(2011) Takeshi Suetomi et al.   CIRCULATION

Early Repolarization

(2011) Jani T. Tikkanen et al.   CIRCULATION

Inherited Dysfunction of Sarcoplasmic Reticulum Ca 2+ Handling and Arrhythmogenesis

(2011) Silvia G. Priori et al.   CIRCULATION RESEARCH

Short Communication: Flecainide Exerts an Antiarrhythmic Effect in a Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia by Increasing the Threshold for Triggered Activity

(2011) Nian Liu et al.   CIRCULATION RESEARCH

Phenotypical Manifestations of Mutations in the Genes Encoding Subunits of the Cardiac Voltage–Dependent L-Type Calcium Channel

(2011) Carlo Napolitano et al.   CIRCULATION RESEARCH

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

(2011) C. Templin et al.   EUROPEAN HEART JOURNAL

Risk of sudden death among young individuals with J waves and early repolarization: Putting the evidence into perspective

(2011) Raphael Rosso et al.   HEART RHYTHM

Distinguishing “benign” from “malignant early repolarization”: The value of the ST-segment morphology

(2011) Raphael Rosso et al.   HEART RHYTHM

Deletion of the Distal C Terminus of CaV1.2 Channels Leads to Loss of β-Adrenergic Regulation and Heart Failurein Vivo

(2011) Ying Fu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Intravenous Epinephrine Infusion Test in Diagnosis of Catecholaminergic Polymorphic Ventricular Tachycardia

(2011) ANNUKKA MARJAMAA et al.   JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY

J-wave syndromes. From cell to bedside

(2011) Charles Antzelevitch et al.   JOURNAL OF ELECTROCARDIOLOGY

Flecainide Therapy Reduces Exercise-Induced Ventricular Arrhythmias in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia

(2011) Christian van der Werf et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The Short QT Syndrome

(2011) Michael H. Gollob et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Long-Term Follow-Up of Patients With Short QT Syndrome

(2011) Carla Giustetto et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Risk Stratification in Brugada Syndrome

(2011) Silvia G. Priori et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome

(2011) Masayuki Yazawa et al.   NATURE

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome

(2011) Sergiu P Paşca et al.   NATURE MEDICINE

Mouse model of Timothy syndrome recapitulates triad of autistic traits

(2011) P. L. Bader et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Voltage-Gated Calcium Channels

(2011) W. A. Catterall   Cold Spring Harbor Perspectives in Biology

Na+-dependent SR Ca2+ overload induces arrhythmogenic events in mouse cardiomyocytes with a human CPVT mutation

(2010) Simon Sedej et al.   CARDIOVASCULAR RESEARCH

Long-Term Prognosis of Patients Diagnosed With Brugada Syndrome

(2010) V. Probst et al.   CIRCULATION

Catecholaminergic Polymorphic Ventricular Tachycardia Is Caused by Mutation-Linked Defective Conformational Regulation of the Ryanodine Receptor

(2010) Hitoshi Uchinoumi et al.   CIRCULATION RESEARCH

Kinetics of FKBP12.6 Binding to Ryanodine Receptors in Permeabilized Cardiac Myocytes and Effects on Ca Sparks

(2010) Tao Guo et al.   CIRCULATION RESEARCH

In the RyR2 R4496C Mouse Model of CPVT, β-Adrenergic Stimulation Induces Ca Waves by Increasing SR Ca Content and Not by Decreasing the Threshold for Ca Waves

(2010) Takeshi Kashimura et al.   CIRCULATION RESEARCH

Short QT Syndrome: From Bench to Bedside

(2010) Chinmay Patel et al.   Circulation-Arrhythmia and Electrophysiology

High prevalence of early repolarization in short QT syndrome

(2010) Hiroshi Watanabe et al.   HEART RHYTHM

Left cardiac sympathetic denervation for the prevention of life-threatening arrhythmias: The surgical supraclavicular approach to cervicothoracic sympathectomy

(2010) Attilio Odero et al.   HEART RHYTHM

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

(2010) Elena Burashnikov et al.   HEART RHYTHM

The Catecholaminergic Polymorphic Ventricular Tachycardia Mutation R33Q Disrupts the N-terminal Structural Motif That Regulates Reversible Calsequestrin Polymerization

(2010) Naresh C. Bal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Short QT interval in clinical practice

(2010) Preben Bjerregaard et al.   JOURNAL OF ELECTROCARDIOLOGY

Spontaneous Ca waves in ventricular myocytes from failing hearts depend on Ca2+-calmodulin-dependent protein kinase II

(2010) Jerry Curran et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

The pathophysiological mechanism underlying Brugada syndrome

(2010) Arthur A.M. Wilde et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Calmodulin kinase II inhibition prevents arrhythmias in RyR2R4496C+/− mice with catecholaminergic polymorphic ventricular tachycardia

(2010) Nian Liu et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

The β Subunit of Voltage-Gated Ca2+ Channels

(2010) Zafir Buraei et al.   PHYSIOLOGICAL REVIEWS

The  2  subunits of voltage-gated calcium channels form GPI-anchored proteins, a posttranslational modification essential for function

(2010) A. Davies et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeted disruption of the voltage-dependent calcium channel α2/δ-1-subunit

(2009) Geraldine A. Fuller-Bicer et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

β-Adrenergic modulation of arrhythmogenesis and identification of targeted sites of antiarrhythmic therapy in Timothy (LQT8) syndrome: a theoretical study

(2009) Ruey J. Sung et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

The QT interval: Too long, too short or just right

(2009) Sami Viskin   HEART RHYTHM

Left cardiac sympathetic denervation for the treatment of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia using video-assisted thoracic surgery

(2009) Christopher A. Collura et al.   HEART RHYTHM

The Calsequestrin Mutation CASQ2D307HDoes Not Affect Protein Stability and Targeting to the Junctional Sarcoplasmic Reticulum but Compromises Its Dynamic Regulation of Calcium Buffering

(2009) Anuradha Kalyanasundaram et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Accelerated inactivation of the L-type calcium current due to a mutation in CACNB2b underlies Brugada syndrome

(2009) Jonathan M. Cordeiro et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

β-Adrenergic receptor signaling in the heart: Role of CaMKII

(2009) Michael Grimm et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Flecainide inhibits arrhythmogenic Ca2+ waves by open state block of ryanodine receptor Ca2+ release channels and reduction of Ca2+ spark mass

(2009) Fredrick A. Hilliard et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Characteristics of Recurrent Ventricular Fibrillation Associated With Inferolateral Early Repolarization

(2009) Michel Haïssaguerre et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome

(2009) Argelia Medeiros-Domingo et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans

(2009) Hiroshi Watanabe et al.   NATURE MEDICINE

Sodium channel mutations and arrhythmias

(2009) Yanfei Ruan et al.   Nature Reviews Cardiology

Catecholaminergic polymorphic ventricular tachycardia-related mutations R33Q and L167H alter calcium sensitivity of human cardiac calsequestrin

(2008) Giorgia Valle et al.   BIOCHEMICAL JOURNAL

Endoplasmic reticulum Ca2+measurements reveal that the cardiac ryanodine receptor mutations linked to cardiac arrhythmia and sudden death alter the threshold for store-overload-induced Ca2+release

(2008) Peter P. Jones et al.   BIOCHEMICAL JOURNAL

Identification of Target Domains of the Cardiac Ryanodine Receptor to Correct Channel Disorder in Failing Hearts

(2008) Takeshi Yamamoto et al.   CIRCULATION

Adrenergic Regulation of Cardiac Contractility Does Not Involve Phosphorylation of the Cardiac Ryanodine Receptor at Serine 2808

(2008) Scott M. MacDonnell et al.   CIRCULATION RESEARCH

Unexpected Structural and Functional Consequences of the R33Q Homozygous Mutation in Cardiac Calsequestrin

(2008) Nicoletta Rizzi et al.   CIRCULATION RESEARCH

Prevalence of early repolarization pattern in inferolateral leads in patients with Brugada syndrome

(2008) Konstantinos P. Letsas et al.   HEART RHYTHM

Luminal Ca2+Regulation of Single Cardiac Ryanodine Receptors: Insights Provided by Calsequestrin and its Mutants

(2008) Jia Qin et al.   JOURNAL OF GENERAL PHYSIOLOGY

J-Point Elevation in Survivors of Primary Ventricular Fibrillation and Matched Control Subjects

(2008) Raphael Rosso et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Left Cardiac Sympathetic Denervation for Catecholaminergic Polymorphic Ventricular Tachycardia

(2008) Arthur A.M. Wilde et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sudden Cardiac Arrest Associated with Early Repolarization

(2008) Michel Haïssaguerre et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Case of Catecholaminergic Polymorphic Ventricular Tachycardia Caused by Two Calsequestrin 2 Mutations

(2008) SAM DE LA FUENTE et al.   PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY

The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels

(2008) C. F. Barrett et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA