Congenital long QT syndrome
Congenital long QT syndrome (LQTS) encompasses a group of heritable conditions that are
associated with cardiac repolarization dysfunction. Since its initial description in 1957, our …
associated with cardiac repolarization dysfunction. Since its initial description in 1957, our …
[HTML][HTML] hERG K+ channels: structure, function, and clinical significance
The human ether-a-go-go related gene (hERG) encodes the pore-forming subunit of the
rapid component of the delayed rectifier K+ channel, Kv11. 1, which are expressed in the …
rapid component of the delayed rectifier K+ channel, Kv11. 1, which are expressed in the …
Structures of human Nav1.7 channel in complex with auxiliary subunits and animal toxins
Voltage-gated sodium channel Nav1. 7 represents a promising target for pain relief. Here we
report the cryo–electron microscopy structures of the human Nav1. 7-β1-β2 complex bound …
report the cryo–electron microscopy structures of the human Nav1. 7-β1-β2 complex bound …
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership …
MJ Ackerman, SG Priori, S Willems, C Berul… - Europace, 2011 - academic.oup.com
1From Mayo Clinic, Rochester, Minnesota; 2Fondazione Salvatore Maugeri University of
Pavia, Pavia, Italy and New York University, New York, New York; 3University Hospital …
Pavia, Pavia, Italy and New York University, New York, New York; 3University Hospital …
Prevalence of the congenital long-QT syndrome
PJ Schwartz, M Stramba-Badiale, L Crotti… - Circulation, 2009 - Am Heart Assoc
Background—The prevalence of genetic arrhythmogenic diseases is unknown. For the long-
QT syndrome (LQTS), figures ranging from 1: 20 000 to 1: 5000 were published, but none …
QT syndrome (LQTS), figures ranging from 1: 20 000 to 1: 5000 were published, but none …
ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: a report of the American College …
Developed in Collaboration With the European … - Journal of the American …, 2006 - jacc.org
ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and
the Prevention of Sudden Cardiac Death: A Report of the American College of …
the Prevention of Sudden Cardiac Death: A Report of the American College of …
Long QT syndrome
I Goldenberg, W Zareba, AJ Moss - Current problems in cardiology, 2008 - Elsevier
The hereditary Long QT syndrome (LQTS) is a genetic channelopathy with variable
penetrance that is associated with increased propensity for polymorphic ventricular …
penetrance that is associated with increased propensity for polymorphic ventricular …
The genetic basis of long QT and short QT syndromes: a mutation update
PL Hedley, P Jørgensen, S Schlamowitz… - Human …, 2009 - Wiley Online Library
Long QT and short QT syndromes (LQTS and SQTS) are cardiac repolarization
abnormalities that are characterized by length perturbations of the QT interval as measured …
abnormalities that are characterized by length perturbations of the QT interval as measured …
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test
JD Kapplinger, DJ Tester, BA Salisbury, JL Carr… - Heart rhythm, 2009 - Elsevier
BACKGROUND: Long QT syndrome (LQTS) is a potentially lethal, highly treatable cardiac
channelopathy for which genetic testing has matured from discovery to translation and now …
channelopathy for which genetic testing has matured from discovery to translation and now …
Molecular pathophysiology of congenital long QT syndrome
Ion channels represent the molecular entities that give rise to the cardiac action potential,
the fundamental cellular electrical event in the heart. The concerted function of these …
the fundamental cellular electrical event in the heart. The concerted function of these …