Pro-arrhythmogenic effects of CACNA1C G1911R mutation in human ventricular tachycardia: insights from cardiac multi-scale models

Expanding the phenotype of Timothy syndrome type 2: An adolescent with ventricular fibrillation but normal development

(2015) Anita Hiippala et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification and Functional Characterization of a NovelCACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death

(2015) Nicole J. Boczek et al.   Circulation-Arrhythmia and Electrophysiology

Novel Timothy syndrome mutation leading to increase in CACNA1C window current

(2015) Nicole J. Boczek et al.   HEART RHYTHM

Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome

(2015) Konstantin Wemhöner et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Small size ionic heterogeneities in the human heart can attract rotors

(2014) Arne Defauw et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2)

(2014) Sebastian Fröhler et al.   BMC Medical Genetics

Electrophysiologic Substrate in Congenital Long QT Syndrome

(2014) Ramya Vijayakumar et al.   CIRCULATION

Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes

(2014) Megumi Fukuyama et al.   EUROPACE

A CACNA1C Variant Associated with Reduced Voltage-Dependent Inactivation, Increased CaV1.2 Channel Window Current, and Arrhythmogenesis

(2014) Jessica A. Hennessey et al.   PLoS One

Exome Sequencing and Systems Biology Converge to Identify Novel Mutations in the L-Type Calcium Channel, CACNA1C , Linked to Autosomal Dominant Long QT Syndrome

(2013) Nicole J. Boczek et al.   Circulation-Cardiovascular Genetics

Polymorphic Ventricular Tachycardia—Part I: Structural Heart Disease and Acquired Causes

(2013) Indrajit Choudhuri et al.   CURRENT PROBLEMS IN CARDIOLOGY

Polymorphic Ventricular Tachycardia–Part II: The Channelopathies

(2013) Indrajit Choudhuri et al.   CURRENT PROBLEMS IN CARDIOLOGY

Interpreting genetic effects through models of cardiac electromechanics

(2012) S. A. Niederer et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Proarrhythmia in KCNJ2-linked short QT syndrome: insights from modelling

(2012) Ismail Adeniran et al.   CARDIOVASCULAR RESEARCH

Sudden Cardiac Death and Genetic Ion Channelopathies

(2012) Carlo Napolitano et al.   CIRCULATION

Theoretical study of L-type Ca2+current inactivation kinetics during action potential repolarization and early afterdepolarizations

(2012) Stefano Morotti et al.   JOURNAL OF PHYSIOLOGY-LONDON

Somatic mosaicism contributes to phenotypic variation in Timothy syndrome

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

Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome

(2011) Jane Gillis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Regional cooling facilitates termination of spiral-wave reentry through unpinning of rotors in rabbit hearts

(2011) Masatoshi Yamazaki et al.   HEART RHYTHM

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

(2011) Masayuki Yazawa et al.   NATURE

Electromechanical wavebreak in a model of the human left ventricle

(2010) R. H. Keldermann et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Transmural Dispersion of Repolarization in Failing and Nonfailing Human Ventricle

(2010) Alexey V. Glukhov et al.   CIRCULATION RESEARCH

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

A sympathetic model of L-type Ca2+ channel-triggered arrhythmias

(2009) Jabe M. Best et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Organization of ventricular fibrillation in the human heart: experiments and models

(2009) K. H. W. J. Ten Tusscher et al.   EXPERIMENTAL PHYSIOLOGY

A computational study of mother rotor VF in the human ventricles

(2008) R. H. Keldermann et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Proarrhythmic Defects in Timothy Syndrome Require Calmodulin Kinase II

(2008) William H. Thiel et al.   CIRCULATION

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

Repolarisation and vulnerability to re-entry in the human heart with short QT syndrome arising from KCNQ1 mutation—A simulation study

(2007) Henggui Zhang et al.   PROGRESS IN BIOPHYSICS & MOLECULAR BIOLOGY