|
rs199473055
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings showed that sex hormones have no effects on the protein expression level and current of the wild-type Nav1.5, neither does it affect the protein expression level and current of BS</span>-associated Nav1.5 mutants R878C and R104W, regardless of homozygous or heterozygous state.
|
30476647 |
2020 |
|
rs199473168
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings showed that sex hormones have no effects on the protein expression level and current of the wild-type Nav1.5, neither does it affect the protein expression level and current of BS</span>-associated Nav1.5 mutants R878C and R104W, regardless of homozygous or heterozygous state.
|
30476647 |
2020 |
|
rs761274563
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Dermal fibroblasts obtained from a BrS patient suffering from SCD harbouring the SCN10A double variants (c.3803G>A and c.3749G>A) and three independent healthy control subjects were reprogrammed to hiPSCs.
|
31106349 |
2019 |
|
rs185638763
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In contrast, A647D is an atypical SCN5A mutation causing Brugada syndrome.
|
29791480 |
2018 |
|
rs199473294
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic testing revealed a heterozygous missense mutation in the SCN5A gene (c. 5038G>A, p. Ala1680Thr), which has been reported in association with Brugada syndrome.
|
30254039 |
2018 |
|
rs199473295
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic testing revealed a heterozygous missense mutation in the SCN5A gene (c. 5038G>A, p. Ala1680Thr), which has been reported in association with Brugada syndrome.
|
30254039 |
2018 |
|
rs137854613
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Readthrough of SCN5A Nonsense Mutations p.R1623X and p.S1812X Questions Gene-therapy in Brugada Syndrome.
|
28552050 |
2017 |
|
rs199473320
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The first variant is a missense mutation, resulting in an amino acid change (Q1832E), which has been described (but not characterized) in a patient with Brugada syndrome.
|
28370132 |
2017 |
|
rs199473561
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The proband had a baseline electrocardiogram that showed Type 2 BrS changes, which escalated to a characteristic Type I BrS pattern during a treadmill test before polymorphic ventricular tachycardia onset at a cycle length of 250 ms. Mutational analysis across all 29 exons in SCN5A of the proband and first-degree relatives of the family revealed that the proband inherited a compound heterozygote mutation in SCN5A, specifically p.A226V and p.R1629X from each parent.
|
25829473 |
2016 |
|
rs374268607
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study suggests that a subclinical SCN5A mutation, p.V1328M, might predispose individuals harboring it to drug-induced Brugada Syndrome.
|
27560382 |
2016 |
|
rs774244998
|
|
|
0.010 |
GeneticVariation |
BEFREE |
However, the SCN5A variants R568H and A993T can be classified as pathogenic LQTS3 causing mutations, while R222stop and R2012H are novel BrS causing mutations.
|
27287068 |
2016 |
|
rs199473315
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The L1786Q mutation is associated with a combined LQT3 and concealed BrS phenotype explained by gating characteristics of the mutated ion channel protein.
|
24599044 |
2014 |
|
rs199473596
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified 4 KCNH2 mutations, T152I, R164C, W927G, and R1135H, in 236 consecutive probands with BrS or Brugada-like ECG.
|
24400717 |
2014 |
|
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 |
|
rs773077577
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified a total of 7 unique (4 novel) putative pathogenic mutations (all in SCN5A; V95I, R121Q [2 cases], R367H, R513H, D870H, V1764D, and S1937F) in 8/123 (6.5%) SUNDS cases.
|
24529773 |
2014 |
|
rs199473318
|
|
|
0.010 |
GeneticVariation |
BEFREE |
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient.
|
23085483 |
2013 |
|
rs199473623
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In summary, this study reveals that R1629Q mutation causes a distinct loss-of-function of the channel due to alter its electrophysiological characteristics, and facilitates our understanding of biophysical mechanisms of BrS.
|
24167619 |
2013 |
|
rs769349991
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Na(V)1.5-S1218I and R811H are novel loss-of-function mutations in the SCN5A gene causing Brugada syndrome.
|
23424222 |
2013 |
|
rs775234338
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.
|
23308164 |
2013 |
|
rs1415844103
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A missense mutation p.Glu83Asp (E83D) was detected in a symptomatic female patient with a type-1 BrS ECG but not in 281 controls.
|
21447824 |
2011 |
|
rs747643709
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A missense mutation p.Glu83Asp (E83D) was detected in a symptomatic female patient with a type-1 BrS ECG but not in 281 controls.
|
21447824 |
2011 |
|
rs199473605
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study supports the concept that febrile illness predisposes individuals who carry a loss of function SCN5A mutation, such as V1340I, to fever-induced ventricular arrhythmias in BrS by significantly reducing the sodium currents in the hyperthermic state.
|
19648062 |
2009 |
|
rs199473248
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report the case of a family with BS and/or ICCD and describe a novel mutation, the P1438L SCN5A mutation.
|
18156160 |
2008 |
|
rs199473322
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome.
|
18252757 |
2008 |
|
rs35310524
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report the case of a family with BS and/or ICCD and describe a novel mutation, the P1438L SCN5A mutation.
|
18156160 |
2008 |