A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response
about
Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5ACardiac sodium channel Nav1.5 mutations and cardiac arrhythmiaModeling tissue- and mutation- specific electrophysiological effects in the long QT syndrome: role of the Purkinje fiberCalcium transients closely reflect prolonged action potentials in iPSC models of inherited cardiac arrhythmia.Complexity of ranolazine and phenytoin use in an infant with long QT syndrome type 3.Impact of genetics on the clinical management of channelopathies.Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmiaModulation of hERG potassium channel gating normalizes action potential duration prolonged by dysfunctional KCNQ1 potassium channelCardiac sodium channel palmitoylation regulates channel availability and myocyte excitability with implications for arrhythmia generationDiastolic transient inward current in long QT syndrome type 3 is caused by Ca2+ overload and inhibited by ranolazinePathophysiology of the cardiac late Na current and its potential as a drug target.Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channelCalmodulin mutations associated with recurrent cardiac arrest in infants.Molecular Pathophysiology of Congenital Long QT Syndrome.A double tyrosine motif in the cardiac sodium channel domain III-IV linker couples calcium-dependent calmodulin binding to inactivation gatingMolecular determinants of local anesthetic action of beta-blocking drugs: Implications for therapeutic management of long QT syndrome variant 3Long QT syndrome due to a novel mutation in SCN5A: treatment with ICD placement at 1 month and left cardiac sympathetic denervation at 3 months of age.Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics.Molecular basis for class Ib anti-arrhythmic inhibition of cardiac sodium channels.The human Nav1.5 F1486 deletion associated with long QT syndrome leads to impaired sodium channel inactivation and reduced lidocaine sensitivity.Posttranslational Modification of Sodium Channels.Sudden infant death syndrome and inherited cardiac conditions.
P2860
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P2860
A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response
description
2007 nî lūn-bûn
@nan
2007 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
A novel and lethal de novo LQT ...... ology and therapeutic response
@ast
A novel and lethal de novo LQT ...... ology and therapeutic response
@en
A novel and lethal de novo LQT ...... ology and therapeutic response
@nl
type
label
A novel and lethal de novo LQT ...... ology and therapeutic response
@ast
A novel and lethal de novo LQT ...... ology and therapeutic response
@en
A novel and lethal de novo LQT ...... ology and therapeutic response
@nl
prefLabel
A novel and lethal de novo LQT ...... ology and therapeutic response
@ast
A novel and lethal de novo LQT ...... ology and therapeutic response
@en
A novel and lethal de novo LQT ...... ology and therapeutic response
@nl
P2093
P2860
P3181
P1433
P1476
A novel and lethal de novo LQT ...... ology and therapeutic response
@en
P2093
Eric Silver
Kevin J Sampson
Meghan Spyres
Minerva Yue
Robert H Pass
Robert S Kass
Wendy Chung
P2860
P3181
P356
10.1371/JOURNAL.PONE.0001258
P407
P577
2007-12-05T00:00:00Z