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rs137854618
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A 12-lead ECG can be used to predict arrhythmias in SCN5A D1275N mutation carriers.
|
28294644 |
2017 |
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rs137854618
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The aim of this study was to generate and characterize a transgenic zebrafish arrhythmia model harboring the pathogenic human cardiac sodium channel mutation SCN5A-D1275N, that has been robustly associated with a range of cardiac phenotypes, including conduction disease, sinus node dysfunction, atrial and ventricular arrhythmias, and dilated cardiomyopathy in humans and in mice.
|
23791817 |
2013 |
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rs137854618
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Cardiac conduction defect and atrial arrhythmias in a large Finnish family appear to result from the SCN5A D1275N mutation.
|
16684018 |
2006 |
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rs184442491
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Atrial myocyte electrophysiology, Ca<sup>2+</sup> handling, and arrhythmia susceptibility were studied in wild-type and Scn5a knock-in mice expressing phosphomimetic (S571E) or phosphoresistant (S571A) Na<sub>V</sub>1.5 at Ser571.
|
31622781 |
2020 |
|
rs137854602
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This initial functional study for SCN5A mutation in the Chinese SUNDS victim revealed that the acidosis aggravated the loss of function of mutant channel R1512W and suggested that nocturnal sleep disorders-associated slight acidosis may trigger the lethal arrhythmia underlying the sudden death of SUNDS cases in the setting of genetic defect.
|
27281089 |
2016 |
|
rs45627438
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The BrS mutation R526H is associated with a reduction in the basal level of INa and a failure of PKA stimulation to augment the current that may contribute to the predisposition to arrhythmias in patients with BrS, independent of the precipitants.
|
24795344 |
2014 |
|
rs199473256
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The F1473C mutation occurs in the channel inactivation gate and enhances late Na(+) channel current (I(NaL)) that is carried by channels that fail to inactivate completely and conduct increased inward current during prolonged depolarization, resulting in delayed repolarization, a prolonged QT interval, and increased risk of fatal arrhythmia.
|
23277474 |
2013 |
|
rs199473580
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study was to characterize the biophysical properties of 2 naturally occurring Na(v) 1.5 variants, p.R689H and p.R689C, found in patients with cardiac arrhythmias and in control individuals.
|
23692053 |
2013 |
|
rs199473142
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutational analysis of arrhythmia-associated genes in the victim revealed the variants SCN5A-R680H and SCN5A-S1103Y.
|
21385947 |
2011 |
|
rs7626962
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The common polymorphism SCN5A-S11</span>03Y (∼13% allelic frequency in African Americans) is a risk factor for arrhythmia</span>, sudden unexplained death (SUD), and sudden infant death syndrome.
|
21385947 |
2011 |
|
rs199473604
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The correlation between the biophysical data and arrhythmia susceptibility suggested that the SIDS was secondary to the LQT3-associated S1333Y mutation.
|
19302788 |
2009 |
|
rs199473605
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel SCN5A mutation V1340I in Brugada syndrome augmenting arrhythmias during febrile illness.
|
19648062 |
2009 |
|
rs370819854
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of KCNQ1 1638G>A, as well as the haplotype harboring KCNQ1 1638A, KCNQ1 1685 + 23G and 1732 + 43T (haplotype AGT) was significantly higher in healthy controls than in arrhythmia patients.
|
18426444 |
2008 |
|
rs137854605
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We classified the mutations as sensitive to Mex (P1332L, R1626P; >/=10% of QTc shortening and QTc <500 ms or no arrhythmias) or insensitive to Mex (S941N, M1652R; negligible or no QTc shortening and sudden death).
|
17698727 |
2007 |
|
rs199473225
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We classified the mutations as sensitive to Mex (P1332L, R1626P; >/=10% of QTc shortening and QTc <500 ms or no arrhythmias) or insensitive to Mex (S941N, M1652R; negligible or no QTc shortening and sudden death).
|
17698727 |
2007 |
|
rs199473283
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We classified the mutations as sensitive to Mex (P1332L, R1626P; >/=10% of QTc shortening and QTc <500 ms or no arrhythmias) or insensitive to Mex (S941N, M1652R; negligible or no QTc shortening and sudden death).
|
17698727 |
2007 |
|
rs199473631
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings suggest that the Na(v)1.5/V1763M channel dysfunction and possible neighboring mutants contribute to a persistent inward current due to altered inactivation kinetics and clinically congenital LQTS with perinatal onset of arrhythmias that responded to lidocaine and mexiletine.
|
15485686 |
2004 |
|
rs199473310
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings suggest that M1766L-SCN5A channel dysfunction may contribute to the basis of lethal arrhythmias, displays an overlapping electrophysiological phenotype, and represents the first sodium channelopathy rescued by drug.
|
12123767 |
2002 |
|
rs137854606
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Computational analysis predicts that the gating defects of G514C selectively slow myocardial conduction, but do not provoke the rapid cardiac arrhythmias associated previously with SCN5A mutations.
|
11234013 |
2001 |