The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 ComparisonThe role of late I Na in development of cardiac arrhythmiasLong-QT syndrome: from genetics to managementCardiac sodium channel Nav1.5 mutations and cardiac arrhythmiaDeterminants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromesInherited bradyarrhythmia: A diverse genetic backgroundCongenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia.Loss-of-Function of the Voltage-Gated Sodium Channel NaV1.5 (Channelopathies) in Patients With Irritable Bowel SyndromeThe implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experienceMutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.A case of Long QT syndrome type 3 aggravated by beta-blockers and alleviated by mexiletine: the role of epinephrine provocation test.Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter StudyAn international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome.A pediatric case of Brugada syndrome diagnosed by fever-provoked ventricular tachycardia.Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutationsA novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndromeA heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome.A rare type of single coronary artery with right coronary artery originating from the left circumflex artery in a child.Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis.Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutationAgeing and Brugada syndrome: considerations and recommendations.R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation.Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.Embryonic type Na+ channel β-subunit, SCN3B masks the disease phenotype of Brugada syndrome.Safe drug use in long QT syndrome and Brugada syndrome: comparison of website statisticsABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene.Personalized medicine to treat arrhythmias.Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature.Computational analysis of the human sinus node action potential: model development and effects of mutations.A rendezvous with the queen of ion channels: Three decades of ion channel research by David T Yue and his Calcium Signals Laboratory.Differential thermosensitivity in mixed syndrome cardiac sodium channel mutants.Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations.Depolarization of the conductance-voltage relationship in the NaV1.5 mutant, E1784K, is due to altered fast inactivation.Quinidine for Brugada syndrome: Panacea or poison?Genomic-based diagnosis of arrhythmia disease in a personalized medicine era.Differential calcium sensitivity in NaV 1.5 mixed syndrome mutants.Arrhythmogenic triggers associated with Sudden Cardiac Death.A common variant alters SCN5A-miR-24 interaction and associates with heart failure mortality.The efficacy of Ranolazine on E1784K is altered by temperature and calcium.
P2860
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P2860
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
The E1784K mutation in SCN5A i ...... pe of type 3 long QT syndrome.
@ast
The E1784K mutation in SCN5A i ...... pe of type 3 long QT syndrome.
@en
type
label
The E1784K mutation in SCN5A i ...... pe of type 3 long QT syndrome.
@ast
The E1784K mutation in SCN5A i ...... pe of type 3 long QT syndrome.
@en
prefLabel
The E1784K mutation in SCN5A i ...... pe of type 3 long QT syndrome.
@ast
The E1784K mutation in SCN5A i ...... pe of type 3 long QT syndrome.
@en
P2093
P2860
P50
P356
P1476
The E1784K mutation in SCN5A i ...... pe of type 3 long QT syndrome.
@en
P2093
Akihiko Sunami
Alfred L George
Dan M Roden
Eric Schulze-Bahr
Hideki Itoh
Hiroyuki Tsutsui
Koji Miyamoto
Michael Christiansen
Minoru Horie
Naoki Mochizuki
P2860
P304
P356
10.1172/JCI34057
P407
P577
2008-06-01T00:00:00Z