Published in Mayo Clin Proc on October 01, 2011
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Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc Natl Acad Sci U S A (2008) 2.79
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Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. Circulation (2007) 2.50
Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Proc Natl Acad Sci U S A (2007) 2.49
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Long-term effects of surgical septal myectomy on survival in patients with obstructive hypertrophic cardiomyopathy. J Am Coll Cardiol (2005) 2.43
SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation (2007) 2.42
Prevention of torsade de pointes in hospital settings: a scientific statement from the American Heart Association and the American College of Cardiology Foundation. J Am Coll Cardiol (2010) 2.41
Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. Mayo Clin Proc (2004) 2.40
Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome. Circulation (2008) 2.40
Distinguishing arrhythmogenic right ventricular cardiomyopathy/dysplasia-associated mutations from background genetic noise. J Am Coll Cardiol (2011) 2.31
Impact of genetics on the clinical management of channelopathies. J Am Coll Cardiol (2013) 2.30
Return to play? Athletes with congenital long QT syndrome. Br J Sports Med (2012) 2.26
Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. Heart Rhythm (2011) 2.26
Does low-dose droperidol administration increase the risk of drug-induced QT prolongation and torsade de pointes in the general surgical population? Anesthesiology (2007) 2.23
Disrupted junctional membrane complexes and hyperactive ryanodine receptors after acute junctophilin knockdown in mice. Circulation (2011) 2.21
Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm (2005) 2.18
Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. J Am Coll Cardiol (2011) 2.15
Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy. J Am Coll Cardiol (2009) 2.14
Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome. JAMA (2006) 2.12
Potential depot medroxyprogesterone acetate-triggered torsades de pointes in a case of congenital type 2 long QT syndrome. Heart Rhythm (2012) 2.09
Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy. Circulation (2002) 2.07
A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels. Circ Res (2003) 2.07
Does low-dose droperidol increase the risk of polymorphic ventricular tachycardia or death in the surgical patient? Anesthesiology (2013) 2.06
Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome. Heart Rhythm (2004) 2.05
Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. J Am Coll Cardiol (2002) 2.02
Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. Heart Rhythm (2008) 2.01
Long QT syndrome-associated mutations in intrauterine fetal death. JAMA (2013) 2.00
Clinical role of atrial arrhythmias in patients with arrhythmogenic right ventricular dysplasia. Circ J (2014) 2.00
A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors. Heart Rhythm (2007) 1.98
Diagnostic miscues in congenital long-QT syndrome. Circulation (2007) 1.97
Considerations on safety concerns about citalopram prescribing. Mayo Clin Proc (2012) 1.97
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. J Am Coll Cardiol (2012) 1.97
A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine. Cardiovasc Res (2002) 1.96
Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circ Cardiovasc Genet (2013) 1.93
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet (2012) 1.91
Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome. Circulation (2012) 1.89
Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. Heart Rhythm (2010) 1.89
Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome. J Cardiovasc Electrophysiol (2006) 1.88
Characteristics and clinical significance of late gadolinium enhancement by contrast-enhanced magnetic resonance imaging in patients with hypertrophic cardiomyopathy. Circ Heart Fail (2009) 1.87
Overrepresentation of the proarrhythmic, sudden death predisposing sodium channel polymorphism S1103Y in a population-based cohort of African-American sudden infant death syndrome. Heart Rhythm (2008) 1.87
Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. Heart Rhythm (2006) 1.87
Institution-wide QT alert system identifies patients with a high risk of mortality. Mayo Clin Proc (2013) 1.87
Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Heart Rhythm (2005) 1.85
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol (2004) 1.83
Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. Circulation (2004) 1.82
Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2: higher recurrence of events under metoprolol. J Am Coll Cardiol (2012) 1.81
Clinical implications for patients with long QT syndrome who experience a cardiac event during infancy. J Am Coll Cardiol (2009) 1.81
Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. J Am Coll Cardiol (2010) 1.80
Catecholamine-induced T-wave lability in congenital long QT syndrome: a novel phenomenon associated with syncope and cardiac arrest. Mayo Clin Proc (2003) 1.79
Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation (2005) 1.77
Pathogenesis of unexplained drowning: new insights from a molecular autopsy. Mayo Clin Proc (2005) 1.76
Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation. Heart Rhythm (2010) 1.76
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. Heart Rhythm (2006) 1.74
Long-QT syndrome after age 40. Circulation (2008) 1.73
Effect of clinical phenotype on yield of long QT syndrome genetic testing. J Am Coll Cardiol (2006) 1.73
Sudden infant death syndrome-associated mutations in the sodium channel beta subunits. Heart Rhythm (2010) 1.72
Long QT syndrome and pregnancy. J Am Coll Cardiol (2007) 1.71
R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation. Heart Rhythm (2010) 1.71
Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. J Mol Cell Cardiol (2007) 1.70
Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc (2012) 1.70