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 …

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 …

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)

DW Benson, DW Wang, M Dyment… - The Journal of …, 2003 - Am Soc Clin Investig
Sick sinus syndrome (SSS) describes an arrhythmia phenotype attributed to sinus node
dysfunction and diagnosed by electrocardiographic demonstration of sinus bradycardia or …

SCN4B-Encoded Sodium Channel β4 Subunit in Congenital Long-QT Syndrome

A Medeiros-Domingo, T Kaku, DJ Tester… - Circulation, 2007 - Am Heart Assoc
Background—Congenital long-QT syndrome (LQTS) is potentially lethal secondary to
malignant ventricular arrhythmias and is caused predominantly by mutations in genes that …

Cardiac sodium channelopathies

AS Amin, A Asghari-Roodsari, HL Tan - Pflügers Archiv-European Journal …, 2010 - Springer
Cardiac sodium channel are protein complexes that are expressed in the sarcolemma of
cardiomyocytes to carry a large inward depolarizing current (I Na) during phase 0 of the …

[PDF][PDF] Guidelines for the interpretation of the neonatal electrocardiogram

PJ Schwartz, A Garson Jr, T Paul… - European heart …, 2002 - aritmologiaincampania.it
Most cardiologists who care for adults have no or minimal experience with
electrocardiograms (ECGs) recorded in infants. So far, this has had no practical implications …

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 …

Compound Heterozygosity for Mutations (W156X and R225W) in SCN5A Associated With Severe Cardiac Conduction Disturbances and Degenerative Changes in …

CR Bezzina, MB Rook, WA Groenewegen… - Circulation …, 2003 - Am Heart Assoc
Cardiac conduction defects associate with mutations in SCN5A, the gene encoding the
cardiac Na+ channel. In the present study, we characterized a family in which the proband …

Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping …

SE Lehnart, MJ Ackerman, DW Benson Jr, R Brugada… - Circulation, 2007 - Am Heart Assoc
The National Heart, Lung, and Blood Institute and Office of Rare Diseases at the National
Institutes of Health organized a workshop (September 14 to 15, 2006, in Bethesda, Md) to …

Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations

CA Remme, AAM Wilde, CR Bezzina - Trends in cardiovascular medicine, 2008 - Elsevier
Cardiac sodium channel dysfunction caused by mutations in the SCN5A gene is associated
with a number of relatively uncommon arrhythmia syndromes, including long-QT syndrome …