Published in J Clin Invest on October 01, 2003
A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nat Genet (2011) 3.94
Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA (2005) 3.89
Inherited disorders of voltage-gated sodium channels. J Clin Invest (2005) 3.29
A common polymorphism in SCN5A is associated with lone atrial fibrillation. Clin Pharmacol Ther (2007) 2.17
Sodium channel mutations and arrhythmias. Nat Rev Cardiol (2009) 2.01
Long QT syndrome-associated mutations in intrauterine fetal death. JAMA (2013) 2.00
Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae. Heart Rhythm (2009) 1.91
Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome. Gastroenterology (2014) 1.86
A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J Clin Invest (2006) 1.79
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. J Clin Invest (2008) 1.69
A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia. Cardiovasc Res (2007) 1.64
Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. Circulation (2007) 1.64
Requirement of neuronal- and cardiac-type sodium channels for murine sinoatrial node pacemaking. J Physiol (2004) 1.59
Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation. Heart Rhythm (2012) 1.51
Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A. Heart Rhythm (2009) 1.50
Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels. Cardiovasc Res (2009) 1.46
Cardiac sodium channelopathies. Pflugers Arch (2009) 1.44
Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel. PLoS One (2015) 1.38
Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro. Circulation (2011) 1.38
Fibroblast growth factor homologous factor 13 regulates Na+ channels and conduction velocity in murine hearts. Circ Res (2011) 1.37
Sinus node dysfunction following targeted disruption of the murine cardiac sodium channel gene Scn5a. J Physiol (2005) 1.27
Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome. PLoS One (2010) 1.25
Pharmacogenetics and anti-arrhythmic drug therapy: a theoretical investigation. Am J Physiol Heart Circ Physiol (2006) 1.23
Genetic testing for inherited cardiac disease. Nat Rev Cardiol (2013) 1.20
Mechanistic links between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick sinus syndrome. Circ Res (2010) 1.18
Mapping cardiac pacemaker circuits: methodological puzzles of the sinoatrial node optical mapping. Circ Res (2010) 1.16
The cardiac conduction system. Circulation (2011) 1.11
The cardiac sodium channel displays differential distribution in the conduction system and transmural heterogeneity in the murine ventricular myocardium. Basic Res Cardiol (2009) 1.11
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. Genet Med (2014) 1.10
Cardiac ankyrins in health and disease. J Mol Cell Cardiol (2009) 1.08
A proton leak current through the cardiac sodium channel is linked to mixed arrhythmia and the dilated cardiomyopathy phenotype. PLoS One (2012) 1.07
SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del. Clin Transl Sci (2010) 1.07
Functional roles of Ca(v)1.3, Ca(v)3.1 and HCN channels in automaticity of mouse atrioventricular cells: insights into the atrioventricular pacemaker mechanism. Channels (Austin) (2011) 1.07
Propranolol blocks cardiac and neuronal voltage-gated sodium channels. Front Pharmacol (2010) 1.03
Cardiac sodium channelopathy associated with SCN5A mutations: electrophysiological, molecular and genetic aspects. J Physiol (2013) 1.02
Lithium-induced sinus node disease at therapeutic concentrations: linking lithium-induced blockade of sodium channels to impaired pacemaker activity. Can J Cardiol (2007) 1.01
Determinants of myocardial conduction velocity: implications for arrhythmogenesis. Front Physiol (2013) 1.01
Conduction abnormalities and ventricular arrhythmogenesis: The roles of sodium channels and gap junctions. Int J Cardiol Heart Vasc (2015) 1.00
FKBP12 is a critical regulator of the heart rhythm and the cardiac voltage-gated sodium current in mice. Circ Res (2011) 0.99
Regional difference in dynamical property of sinoatrial node pacemaking: role of na+ channel current. Biophys J (2008) 0.99
Recent progress in congenital long QT syndrome. Curr Opin Cardiol (2010) 0.99
A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect. J Med Genet (2006) 0.98
Monogenic atrial fibrillation as pathophysiological paradigms. Cardiovasc Res (2010) 0.94
Voltage-gated sodium channels: biophysics, pharmacology, and related channelopathies. Front Pharmacol (2012) 0.94
Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome. Pacing Clin Electrophysiol (2009) 0.94
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. BMC Cardiovasc Disord (2012) 0.93
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. Nat Genet (2014) 0.93
Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel. Acta Physiol (Oxf) (2008) 0.92
Determinants of heterogeneity, excitation and conduction in the sinoatrial node: a model study. PLoS Comput Biol (2010) 0.90
Downregulation of neuronal sodium channel subunits Nav1.1 and Nav1.6 in the sinoatrial node from volume-overloaded heart failure rat. Pflugers Arch (2007) 0.89
Relative contribution of changes in sodium current versus intercellular coupling on reentry initiation in 2-dimensional preparations of plakophilin-2-deficient cardiac cells. Heart Rhythm (2011) 0.89
Electrophysiological Mechanisms of Brugada Syndrome: Insights from Pre-clinical and Clinical Studies. Front Physiol (2016) 0.88
Biophysics, pathophysiology, and pharmacology of ion channel gating pores. Front Pharmacol (2014) 0.87
Altered sinoatrial node function and intra-atrial conduction in murine gain-of-function Scn5a+/ΔKPQ hearts suggest an overlap syndrome. Am J Physiol Heart Circ Physiol (2012) 0.86
Alternative splicing of the cardiac sodium channel creates multiple variants of mutant T1620K channels. PLoS One (2011) 0.85
Mouse Models of SCN5A-Related Cardiac Arrhythmias. Front Physiol (2012) 0.85
SCN5A mutations in Brugada syndrome are associated with increased cardiac dimensions and reduced contractility. PLoS One (2012) 0.85
Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature. Indian Pacing Electrophysiol J (2014) 0.85
Reprogramming and transdifferentiation for cardiovascular development and regenerative medicine: where do we stand? EMBO Mol Med (2015) 0.85
Brugada syndrome. Orphanet J Rare Dis (2006) 0.84
A contemporary review on the genetic basis of atrial fibrillation. Methodist Debakey Cardiovasc J (2014) 0.84
Popeye domain-containing proteins and stress-mediated modulation of cardiac pacemaking. Trends Cardiovasc Med (2013) 0.83
Tubulin polymerization disrupts cardiac β-adrenergic regulation of late INa. Cardiovasc Res (2014) 0.83
Ion Channels in the Heart. Compr Physiol (2015) 0.83
Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death. Sci Rep (2014) 0.82
Cardiac sodium channel Nav1.5 mutations and cardiac arrhythmia. Pediatr Cardiol (2012) 0.81
Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium. Circ Cardiovasc Genet (2014) 0.81
Baf250a orchestrates an epigenetic pathway to repress the Nkx2.5-directed contractile cardiomyocyte program in the sinoatrial node. Cell Res (2014) 0.81
Role of sinoatrial node architecture in maintaining a balanced source-sink relationship and synchronous cardiac pacemaking. Front Physiol (2014) 0.81
Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms. Sci Rep (2015) 0.81
Nav 1.5 mutations linked to dilated cardiomyopathy phenotypes: Is the gating pore current the missing link? Channels (Austin) (2013) 0.81
Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect. J Am Heart Assoc (2016) 0.81
Arrhythmogenic and metabolic remodelling of failing human heart. J Physiol (2016) 0.80
Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder. EMBO Mol Med (2014) 0.80
Controlling Parasympathetic Regulation of Heart Rate: A Gatekeeper Role for RGS Proteins in the Sinoatrial Node. Front Physiol (2012) 0.80
Voltage-gated sodium channels were differentially expressed in human normal prostate, benign prostatic hyperplasia and prostate cancer cells. Oncol Lett (2014) 0.79
Pathophysiological Mechanisms of Sino-Atrial Dysfunction and Ventricular Conduction Disease Associated with SCN5A Deficiency: Insights from Mouse Models. Front Physiol (2012) 0.79
The Popeye domain containing genes: essential elements in heart rate control. Cardiovasc Diagn Ther (2012) 0.78
The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction. J Interv Card Electrophysiol (2015) 0.77
Novel deletion mutation in the cardiac sodium channel inactivation gate causes long QT syndrome. Int J Cardiol (2012) 0.77
The SCN5A mutation A1180V is associated with electrocardiographic features of LQT3. Pediatr Cardiol (2013) 0.77
Loss of dihydrolipoyl succinyltransferase (DLST) leads to reduced resting heart rate in the zebrafish. Basic Res Cardiol (2015) 0.77
Popeye proteins: muscle for the aging sinus node. J Clin Invest (2012) 0.76
Inherited Arrhythmias: Of Channels, Currents, and Swimming. Biophys J (2016) 0.75
In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs). Genomic Med (2009) 0.75
Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes. J Am Heart Assoc (2016) 0.75
Complexities of Genetic Testing in Familial Dilated Cardiomyopathy. Circ Cardiovasc Genet (2016) 0.75
Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population. Dis Markers (2016) 0.75
Diversity in cardiac sodium channel disease phenotype in transgenic mice carrying a single SCN5A mutation. Neth Heart J (2007) 0.75
Genetics and Sinus Node Dysfunction. J Atr Fibrillation (2009) 0.75
Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome. Korean Circ J (2016) 0.75
Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture. Circ Arrhythm Electrophysiol (2015) 0.75
Inherited arrhythmias in children. Indian Pacing Electrophysiol J (2008) 0.75
FGF13 modulates the gating properties of the cardiac sodium channel Nav1.5 in an isoform-specific manner. Channels (Austin) (2016) 0.75
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. Ann Clin Transl Neurol (2016) 0.75
Stroke complicating congenital sick sinus syndrome. Herzschrittmacherther Elektrophysiol (2007) 0.75
Development of the cardiac pacemaker. Cell Mol Life Sci (2016) 0.75
From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels. Neuron (2000) 9.51
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell (1995) 7.73
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation (2000) 7.50
Molecular mechanism for an inherited cardiac arrhythmia. Nature (1995) 6.09
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ Res (1999) 4.57
Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel. Proc Natl Acad Sci U S A (1992) 3.97
Electrical reversion of cardiac arrhythmias. Br Heart J (1967) 3.94
Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a. Proc Natl Acad Sci U S A (2002) 3.59
Cardiac conduction defects associate with mutations in SCN5A. Nat Genet (1999) 2.73
A sodium-channel mutation causes isolated cardiac conduction disease. Nature (2001) 2.67
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation (2001) 2.65
An unexpected role for brain-type sodium channels in coupling of cell surface depolarization to contraction in the heart. Proc Natl Acad Sci U S A (2002) 2.48
Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics (1996) 2.44
Cardiac channelopathies. Nature (2002) 2.31
Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum Mol Genet (1995) 2.30
Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. Cardiovasc Res (2000) 2.19
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum Mol Genet (2002) 2.16
A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. Circ Res (2003) 2.15
Pacemaker channel dysfunction in a patient with sinus node disease. J Clin Invest (2003) 2.14
Sick sinus syndrome in children. Arch Dis Child (1976) 2.03
An unexpected requirement for brain-type sodium channels for control of heart rate in the mouse sinoatrial node. Proc Natl Acad Sci U S A (2003) 1.86
Enhanced Na(+) channel intermediate inactivation in Brugada syndrome. Circ Res (2000) 1.74
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation (2002) 1.65
The sodium channel beta-subunit SCN3b modulates the kinetics of SCN5a and is expressed heterogeneously in sheep heart. J Physiol (2001) 1.43
Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block. Circ Res (2001) 1.14
Sinus node dysfunction in children, adolescents, and young adults. Pediatrics (1978) 1.10
Sick sinus syndrome. Symptomatic cases in children. Arch Dis Child (1975) 1.06
Electrocardiographic recognition of sinus node dysfunction in children and young adults. Circulation (1977) 1.04
Familial sinus node disease. Chest (1971) 1.03
A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome. FEBS Lett (1998) 0.98
Symptomatic sick sinus syndrome in children and adolescents as the only manifestation of cardiac abnormality or associated with unoperated congenital heart disease. Am J Cardiol (1983) 0.98
Structure and function of the cardiac sodium channels. Cardiovasc Res (1999) 0.96
Familial atrial standstill and inexcitability in childhood. Am J Cardiol (1984) 0.95
Genetics and arrhythmias. Annu Rev Med (2002) 0.94
Symptomatic sinus node dysfunction in children without structural heart disease. Pediatrics (1982) 0.93
Persistent sinus nodal electrograms during abnormally prolonged postpacing atrial pauses in sick sinus syndrome in humans: sinoatrial block vs overdrive suppression. Circulation (1983) 0.93
Heterozygote manifestation in recessive generalized myotonia. Hum Genet (1979) 0.91
Sick sinus syndrome in childhood. Br Heart J (1980) 0.90
Sinoatrial conduction in children: an index of sinoatrial node function. Circulation (1979) 0.89
Postextrasystolic sinoatrial exit block in human sick sinus syndrome: demonstration by direct recording of sinus node electrograms. Am Heart J (1991) 0.89
Spectrum of sinus node dysfunction in two siblings. Am Heart J (1976) 0.88
[Sick sinus syndrome in children with a "healthy heart". Apropos of 2 cases with direct endocavitory tracing of the sino-atrial block]. Ann Cardiol Angeiol (Paris) (1989) 0.84
Familial congenital sinus rhythm anomalies: clinical and pathological correlations. Pacing Clin Electrophysiol (1992) 0.84
Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation (2007) 4.10
PiggyBac transposon-mediated gene transfer in human cells. Mol Ther (2007) 4.07
Molecular basis of an inherited epilepsy. Neuron (2002) 3.77
ADHD drugs and serious cardiovascular events in children and young adults. N Engl J Med (2011) 3.12
Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation (2002) 2.98
KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome. Circulation (2005) 2.78
Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation (2013) 2.66
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation (2008) 2.56
Pharmacogenetics of long-term responses to antiretroviral regimens containing Efavirenz and/or Nelfinavir: an Adult Aids Clinical Trials Group Study. J Infect Dis (2005) 2.43
Impact of genetics on the clinical management of channelopathies. J Am Coll Cardiol (2013) 2.30
Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation (2007) 2.28
Structure of KCNE1 and implications for how it modulates the KCNQ1 potassium channel. Biochemistry (2008) 2.22
Antitachycardia pacing reduces appropriate and inappropriate shocks in children and congenital heart disease patients. Heart Rhythm (2012) 2.07
Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function. J Am Soc Nephrol (2008) 2.04
Genotype-phenotype associations for common CYP3A4 and CYP3A5 variants in the basal and induced metabolism of midazolam in European- and African-American men and women. Pharmacogenetics (2003) 2.03
Long QT syndrome-associated mutations in intrauterine fetal death. JAMA (2013) 2.00
NOS1AP is a genetic modifier of the long-QT syndrome. Circulation (2009) 2.00
A multicenter experience with novel implantable cardioverter defibrillator configurations in the pediatric and congenital heart disease population. J Cardiovasc Electrophysiol (2006) 1.95
Neural control of heart rate is an arrhythmia risk modifier in long QT syndrome. J Am Coll Cardiol (2008) 1.91
Cardiac ion channels. Annu Rev Physiol (2002) 1.90
Resynchronization therapy in pediatric and congenital heart disease patients: an international multicenter study. J Am Coll Cardiol (2005) 1.90
Flecainide therapy reduces exercise-induced ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia. J Am Coll Cardiol (2011) 1.89
Myotonia congenita. Adv Genet (2008) 1.80
Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. J Neurosci (2003) 1.77
Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation (2005) 1.77
Cardiovascular monitoring and stimulant drugs for attention-deficit/hyperactivity disorder. Pediatrics (2008) 1.72
Expression of multiple KCNE genes in human heart may enable variable modulation of I(Ks). J Mol Cell Cardiol (2005) 1.70
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. J Clin Invest (2008) 1.69
Polymorphic ventricular tachycardia and KCNJ2 mutations. Heart Rhythm (2004) 1.68
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation (2002) 1.65
Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc Natl Acad Sci U S A (2004) 1.65
KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet (2002) 1.60
A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome. Heart Rhythm (2008) 1.59
Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. J Am Coll Cardiol (2012) 1.58
Multiplexed transposon-mediated stable gene transfer in human cells. Proc Natl Acad Sci U S A (2010) 1.57
Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel. Circ Arrhythm Electrophysiol (2008) 1.53
The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet (2002) 1.51
Cryoablation of accessory pathways in the coronary sinus in young patients: a multicenter study from the Pediatric and Congenital Electrophysiology Society's Working Group on Cryoablation. J Cardiovasc Electrophysiol (2007) 1.49
A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes. Circ Cardiovasc Genet (2011) 1.48
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. Circulation (2005) 1.48
Cardiac rhythm devices in the pediatric population: utilization and complications. Heart Rhythm (2011) 1.44
Isoproterenol administration during general anesthesia for the evaluation of children with ventricular preexcitation. Circ Arrhythm Electrophysiol (2010) 1.39
Structural models for the KCNQ1 voltage-gated potassium channel. Biochemistry (2007) 1.38
Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro. Circulation (2011) 1.38
Preparation, functional characterization, and NMR studies of human KCNE1, a voltage-gated potassium channel accessory subunit associated with deafness and long QT syndrome. Biochemistry (2007) 1.35
Functional zinc finger/sleeping beauty transposase chimeras exhibit attenuated overproduction inhibition. FEBS Lett (2005) 1.35
The genetic basis of variability in drug responses. Nat Rev Drug Discov (2002) 1.34
Haplotype diversity in four genes (CLCNKA, CLCNKB, BSND, NEDD4L) involved in renal salt reabsorption. Hum Hered (2007) 1.30
Novel calmodulin mutations associated with congenital arrhythmia susceptibility. Circ Cardiovasc Genet (2014) 1.27
Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants. Circ Res (2014) 1.27
Improved DNA sequencing quality and efficiency using an optimized fast cycle sequencing protocol. Biotechniques (2007) 1.26
Mutant prenyltransferase-like mitochondrial protein (PLMP) and mitochondrial abnormalities in kd/kd mice. Kidney Int (2004) 1.24
Molecular, functional, and genomic characterization of human KCC2, the neuronal K-Cl cotransporter. Brain Res Mol Brain Res (2002) 1.24
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nat Genet (2013) 1.23
Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia. Circ Res (2007) 1.23
Drug transporter and metabolizing enzyme gene variants and nonnucleoside reverse-transcriptase inhibitor hepatotoxicity. Clin Infect Dis (2006) 1.18
Strategy for encoding and comparison of gene expression signatures. Genome Biol (2007) 1.18
Genetic variation in the rhythmonome: ethnic variation and haplotype structure in candidate genes for arrhythmias. Pharmacogenomics (2009) 1.16
Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia. J Am Coll Cardiol (2012) 1.15
Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy. J Gen Physiol (2006) 1.14
Divergent sodium channel defects in familial hemiplegic migraine. Proc Natl Acad Sci U S A (2008) 1.13
Clinical stress testing in the pediatric age group: a statement from the American Heart Association Council on Cardiovascular Disease in the Young, Committee on Atherosclerosis, Hypertension, and Obesity in Youth. Circulation (2006) 1.13
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. J Physiol (2005) 1.12
Manipulating piggyBac transposon chromosomal integration site selection in human cells. Mol Ther (2011) 1.12
Relation of milrinone after surgery for congenital heart disease to significant postoperative tachyarrhythmias. Am J Cardiol (2011) 1.11
Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia. Heart Rhythm (2011) 1.11
Hybrid assemblies of ATP-sensitive K+ channels determine their muscle-type-dependent biophysical and pharmacological properties. Proc Natl Acad Sci U S A (2006) 1.11
KCNE4 can co-associate with the I(Ks) (KCNQ1-KCNE1) channel complex. FEBS J (2008) 1.10
Coupled analysis of gene expression and chromosomal location. Genomics (2005) 1.10
Genetic susceptibility to acquired long QT syndrome: pharmacologic challenge in first-degree relatives. Heart Rhythm (2005) 1.10
Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures. Epilepsia (2008) 1.09
Quantitation of protein kinase A-mediated trafficking of cardiac sodium channels in living cells. Cardiovasc Res (2006) 1.07
Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. Eur J Neurosci (2011) 1.07
In vivo identification of genes that modify ether-a-go-go-related gene activity in Caenorhabditis elegans may also affect human cardiac arrhythmia. Proc Natl Acad Sci U S A (2004) 1.07
Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. Epilepsia (2006) 1.07
Functional characterization of recombinant human ClC-4 chloride channels in cultured mammalian cells. J Physiol (2002) 1.07
Functional repair of a mutant chloride channel using a trans-splicing ribozyme. J Clin Invest (2002) 1.07
Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation. J Neurosci (2006) 1.06
Change of chloride ion channel conductance is an early event of slow-to-fast fibre type transition during unloading-induced muscle disuse. Brain (2002) 1.06
SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs. Epilepsia (2011) 1.06
Molecular physiology of renal ClC chloride channels/transporters. Curr Opin Nephrol Hypertens (2006) 1.04
Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes. PLoS One (2013) 1.04
Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome. Circ Cardiovasc Genet (2013) 1.03
Expression and transcriptional control of human KCNE genes. Genomics (2005) 1.03
Propranolol blocks cardiac and neuronal voltage-gated sodium channels. Front Pharmacol (2010) 1.03
Conditional mutation of Pkd2 causes cystogenesis and upregulates beta-catenin. J Am Soc Nephrol (2009) 1.02
Different flecainide sensitivity of hNav1.4 channels and myotonic mutants explained by state-dependent block. J Physiol (2003) 1.02