Molecular physiology of cardiac repolarization

JM Nerbonne, RS Kass - Physiological reviews, 2005 - journals.physiology.org
The heart is a rhythmic electromechanical pump, the functioning of which depends on action
potential generation and propagation, followed by relaxation and a period of refractoriness …

Calcium sparks

H Cheng, WJ Lederer - Physiological reviews, 2008 - journals.physiology.org
The calcium ion (Ca2+) is the simplest and most versatile intracellular messenger known.
The discovery of Ca2+ sparks and a related family of elementary Ca2+ signaling events has …

Gene variant effects across sodium channelopathies predict function and guide precision therapy

A Brunklaus, T Feng, T Brünger, E Perez-Palma… - Brain, 2022 - academic.oup.com
Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …

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 …

Molecular pathophysiology of congenital long QT syndrome

MS Bohnen, G Peng, SH Robey… - Physiological …, 2017 - journals.physiology.org
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 …

Inherited disorders of voltage-gated sodium channels

AL George - The Journal of clinical investigation, 2005 - Am Soc Clin Investig
A variety of inherited human disorders affecting skeletal muscle contraction, heart rhythm,
and nervous system function have been traced to mutations in genes encoding voltage …

SCN5A Variants: Association With Cardiac Disorders

W Li, L Yin, C Shen, K Hu, J Ge, A Sun - Frontiers in physiology, 2018 - frontiersin.org
The SCN5A gene encodes the alpha subunit of the main cardiac sodium channel Nav1. 5.
This channel predominates inward sodium current (INa) and plays a critical role in …

Cardiac ion channels

DM Roden, JR Balser, AL George Jr… - Annual review of …, 2002 - annualreviews.org
▪ Abstract The normal electrophysiologic behavior of the heart is determined by ordered
propagation of excitatory stimuli that result in rapid depolarization and slow repolarization …

Computational biology in the study of cardiac ion channels and cell electrophysiology

Y Rudy, JR Silva - Quarterly reviews of biophysics, 2006 - cambridge.org
1. Prologue 582. The Hodgkin–Huxley formalism for computing the action potential 592.1
The axon action potential model 592.2 Cardiac action potential models 623. Ion-channel …

A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill

WA Groenewegen, M Firouzi, CR Bezzina… - Circulation …, 2003 - Am Heart Assoc
Atrial standstill (AS) is a rare arrhythmia that occasionally appears to be genetically
determined. This study investigates the genetic background of this arrhythmogenic disorder …