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Long Qt Syndrome 6

Known as: LQT6 
 
National Institutes of Health

Related topics

Related topics

8 relations
Autosomal dominant inheritanceKCNE2 geneKCNE2, ILE57THRSudden Cardiac Death
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Broader (1)

Long QT Syndrome

Papers overview

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Highly Cited
2009
Highly Cited
2009
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
BACKGROUND Long QT syndrome (LQTS) is a potentially lethal, highly treatable cardiac channelopathy for which genetic testing has… Expand
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Highly Cited
2007
Highly Cited
2007
Postmortem long QT syndrome genetic testing for sudden unexplained death in the young.
OBJECTIVES This study sought to determine the spectrum and prevalence of long QT syndrome (LQTS)-associated mutations in a large… Expand
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Highly Cited
2006
Highly Cited
2006
Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.
BACKGROUND Mutations in the RyR2-encoded cardiac ryanodine receptor/calcium release channel and in CASQ2-encoded calsequestrin… Expand
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Highly Cited
2005
Highly Cited
2005
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
OBJECTIVES The purpose of this study was to determine the spectrum and prevalence of cardiac channel mutations among a large… Expand
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2005
2005
Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects.
BACKGROUND Mutations in ANK2-encoded ankyrin-B underlie long QT syndrome type 4 (LQT4) and various other dysrhythmia phenotypes… Expand
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2004
2004
Single nucleotide polymorphism map of five long-QT genes
We screened a white population for single nucleotide polymorphisms (SNPs) in five long QT syndrome genes, namely, KCNQ1 (LQT1… Expand
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2004
2004
KCNE2 protein is expressed in ventricles of different species, and changes in its expression contribute to electrical remodeling in diseased hearts.
BACKGROUND Mutations in KCNE2 have been linked to long-QT syndrome (LQT6), yet KCNE2 protein expression in the ventricle and its… Expand
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Highly Cited
2003
Highly Cited
2003
Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.
OBJECTIVE To determine the spectrum, frequency, and ethnic-specificity of channel variants in the potassium channel genes… Expand
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2002
2002
Pharmacological rescue of mutant ion channels.
See article by Valdivia et al. [1] (pages 279–289) in this issue. The congenital Long QT (LQT) syndrome [1] is a disorder that… Expand
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Review
1999
Review
1999
Long QT syndromes and torsade de pointes
In the long QT syndromes (LQTS), malfunction of ion channels impairs ventricular repolarisation and triggers a characteristic… Expand
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