Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia

scientific article published on 7 November 2011

Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.HRTHM.2011.11.006
P932PMC publication ID3292693
P698PubMed publication ID22064211
P5875ResearchGate publication ID51778280

P50authorAnita J Moon-GradyQ86214611
Bettina CuneoQ87675520
P2093author name stringAlfred L George
D Woodrow Benson
Suhong Yu
Ronald T Wakai
Lisa L Murphy
Jennifer D Kunic
P2860cites workPrimary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channelQ24563388
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Prevalence of long-QT syndrome gene variants in sudden infant death syndromeQ28282448
A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic responseQ28471659
A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutationQ31119456
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutationQ33148552
Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in JapanQ33158155
A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutationsQ33159495
Molecular mechanism for an inherited cardiac arrhythmiaQ33173678
Prenatal findings in patients with prolonged QT interval in the neonatal periodQ33175112
Neonatal long QT syndrome and sudden cardiac deathQ33924953
A molecular link between the sudden infant death syndrome and the long-QT syndromeQ34509859
Long QT syndrome and life threatening arrhythmia in a newborn: molecular diagnosis and treatment responseQ35581890
Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndromeQ35796614
Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmiaQ37019675
Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channelQ37301466
Fetal ventricular tachycardia secondary to long QT syndrome treated with maternal intravenous magnesium: case report and review of the literatureQ37592060
SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.Q40251945
Tetrodotoxin-resistant Na+ channels in human neuroblastoma cells are encoded by new variants of Nav1.5/SCN5A.Q40382553
A novel polyclonal antibody specific for the Na(v)1.5 voltage-gated Na(+) channel 'neonatal' splice formQ40383358
A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tachycardia/bradycardiaQ40504307
De novo mutation in the SCN5A gene associated with early onset of sudden infant deathQ40782355
Postnatal outcome of fetal bradycardia without significant cardiac abnormalitiesQ44785594
Images in cardiovascular medicine. Life-threatening neonatal arrhythmia: successful treatment and confirmation of clinically suspected extreme long QT-syndrome-3.Q44891109
Efficacy of an implantable cardioverter-defibrillator in a neonate with LQT3 associated arrhythmiasQ45238542
Prenatal diagnosis and management of fetal Long QT syndromeQ46425034
Prenatal diagnosis and in utero treatment of torsades de pointes associated with congenital long QT syndromeQ47563306
Postmortem molecular analysis of SCN5A defects in sudden infant death syndromeQ48678936
Cardiac sodium channel dysfunction in sudden infant death syndrome.Q51925547
Wisconsin stillbirth services program: a multifocal approach to stillbirth analysisQ61840603
Fetus with long QT syndrome manifested by tachyarrhythmia: a case reportQ73084017
Fetal sinus bradycardia and the long QT syndromeQ74544886
A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT sydrome. Mutations in brief no. 140. OnlineQ77313509
P433issue4
P304page(s)590-597
P577publication date2011-11-07
P1433published inHeart RhythmQ2058605
P1476titleDevelopmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia
P478volume9

Reverse relations

cites work (P2860)
Q48462683'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour
Q34119019Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome
Q42065538Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms
Q50058052Biophysical comparison of sodium currents in native cardiac myocytes and human induced pluripotent stem cell-derived cardiomyocytes
Q58123922CRISPR -Mediated Expression of the Fetal Scn5a Isoform in Adult Mice Causes Conduction Defects and Arrhythmias
Q37327429Calmodulin mutations associated with recurrent cardiac arrest in infants
Q38118751Cardiac sodium channelopathy associated with SCN5A mutations: electrophysiological, molecular and genetic aspects
Q43115368Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome
Q36766298Dominant negative consequences of a hERG 1b-specific mutation associated with intrauterine fetal death
Q43142639Enhanced impact of SCN5A mutation associated with long QT syndrome in fetal splice isoform
Q36018457Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death
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Q37702927Ion channels under the sun.
Q89035983Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death
Q37367812Long QT syndrome-associated mutations in intrauterine fetal death
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