|
rs12720459
|
|
|
0.770 |
GeneticVariation |
BEFREE |
We studied 169 LQTS genotype-positive patients < 50 years of age who performed an ExStrT with the same protocol, on and off β-blockers including 47 South African LQT1 patients all harboring the KCNQ1-A341V mutation and 122 Italian LQTS patients with impaired (I(Ks)-, 66 LQT1) or normal (I(Ks)+, 50 LQT2 and 6 LQT3) I(Ks) current.
|
23158531 |
2012 |
|
rs12720459
|
|
|
0.770 |
GeneticVariation |
BEFREE |
We generated human induced pluripotent stem cells (hiPSCs) from a symptomatic Long QT Syndrome (LQTS) type 1 patient, belonging to a South African (SA) founder population segregating the heterozygous mutation c.1022C > T p.A341V on the KCNQ1 gene.
|
30878014 |
2019 |
|
rs12720459
|
|
|
0.770 |
GeneticVariation |
BEFREE |
We generated PSMi001-A and PSMi008-A hiPSC lines from two individuals belonging to a South African (SA) founder population in which the malignant KCNQ1-A341V mutation cosegregates with the Long QT Syndrome (LQTS) phenotype.
|
31398660 |
2019 |
|
rs12720459
|
|
|
0.770 |
GeneticVariation |
BEFREE |
This study tested the hypothesis that vagal and sympathetic control, as assessed by spectral analysis of spontaneous beat-to-beat variability of RR and QT intervals from standard 24-h electrocardiogram Holter recordings, could modulate the severity of LQTS type 1 (LQT1) in 46 members of a South-African LQT1 founder population carrying the clinically severe KCNQ1 A341V mutation.
|
25634836 |
2015 |
|
rs12720459
|
|
|
0.770 |
GeneticVariation |
BEFREE |
Recent studies have shown that LQT is caused by an Ala212Val mutation in a potassium channel gene (KVLQT1) in pedigrees 161 to 164.
|
8818942 |
1996 |
|
rs12720459
|
|
|
0.770 |
GeneticVariation |
BEFREE |
Partial restoration of the long QT syndrome associated KCNQ1 A341V mutant by the KCNE1 β-subunit.
|
21854832 |
2011 |
|
rs12720459
|
|
|
0.770 |
GeneticVariation |
BEFREE |
The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification.
|
17984373 |
2007 |
|
rs1805128
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The KCNE1-D85N polymorphism was significantly more frequent in our LQTS probands.
|
19695459 |
2009 |
|
rs1805128
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Retrospective review was used to compare demographics, symptomatology, and QT parameters of individuals with p.Asp85Asn-KCNE1 in the absence of other rare/ultra-rare variants in LQTS-susceptibility genes and those who underwent comprehensive LQTS genetic testing.
|
29625280 |
2018 |
|
rs1805128
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Our data warrant additional studies on the role of KCNE1 D85N in other genetically homogeneous groups of LQTS patients.
|
21244686 |
2011 |
|
rs1805128
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Screening of the genotype disclosed the KCNE1 D85N polymorphism, which is known as one of the typical disease-causing gene variants in long-QT syndrome (LQTS).
|
22999324 |
2013 |
|
rs1805128
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Instability of KCNE1-D85N that causes long QT syndrome: stabilization by verapamil.
|
24499369 |
2014 |
|
rs120074190
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We studied the effect of D85N on age-, sex-, and heart rate-adjusted QT-interval duration by linear regression in LQTS patients carrying the Finnish founder mutations KCNQ1 G589D (n = 492), KCNQ1 IVS7-2A>G (n = 66), KCNH2 L552S (n = 73), and KCNH2 R176W (n = 88).
|
21244686 |
2011 |
|
rs120074190
|
|
|
0.730 |
GeneticVariation |
BEFREE |
A total of six compound heterozygotes were identified who had the HERG R176W mutation in combination with a previously reported LQTS mutation (KCNQ1 G589D or IVS7-2A>G).
|
16754261 |
2006 |
|
rs120074190
|
|
|
0.730 |
GeneticVariation |
BEFREE |
One of the most common and potentially life-threatening electrolyte disturbances is hypokalemia, characterized by low concentrations of K<sup>+</sup> Using a multielectrode array platform and current clamp technique, we investigated the effect of low extracellular K<sup>+</sup> concentration ([K<sup>+</sup>]<sub>Ex</sub>) on the electrophysiological properties of hiPSC-derived cardiomyocytes (CMs) generated from a healthy control subject (WT) and from two symptomatic patients with type 1 of LQTS carrying G589D (LQT1A) or IVS7-2A>G mutation (LQT1B) in <i>KCNQ1</i> The baseline prolongations of field potential durations (FPDs) and action potential durations (APDs) were longer in LQT1-CMs than in WT-CMs.
|
28619993 |
2017 |
|
rs151344631
|
|
|
0.730 |
GeneticVariation |
BEFREE |
A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.
|
18580685 |
2008 |
|
rs151344631
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We examined the role of a novel synonymous <i>KCNQ1</i> p.L353L variant on the splicing of exon 8 and on heart rate corrected QT interval (QTc) in a population known to have a pathogenic LQTS type 1 (LQTS1) causative mutation, p.V205M, in <i>KCNQ1</i>-encoded Kv7.1.
|
28264985 |
2017 |
|
rs151344631
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Given the lack of prelingual deafness the homozygous V205M LQTS patients present with a phenotype more typical of RWS than JLNS.
|
23844633 |
2014 |
|
rs28928905
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We report a case of a novel HERG mutation (A490T) that caused a bradycardia-associated form of long QT syndrome.
|
11170080 |
2001 |
|
rs28928905
|
|
|
0.730 |
GeneticVariation |
BEFREE |
Furthermore, in another LQTS family we found that KCNH2 mutation A490T co-segregated with a common SNP K897T in KCNH2.
|
18808722 |
2008 |
|
rs28928905
|
|
|
0.730 |
GeneticVariation |
BEFREE |
A novel mutation in human ether-a-go-go-related gene, alanine to proline at position 490, found in a large family with autosomal dominant long QT syndrome.
|
17560885 |
2007 |
|
rs120074189
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The trafficking-deficient LQTS mutation KCNQ1-T587M fails to show the chaperoning function that enhances KCNH2 membrane localization with KCNQ1-WT.
|
19959132 |
2009 |
|
rs120074189
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The disruption of hERG trafficking caused by the KCNQ1-T587M mutation is likely the reason why some patients exhibit severe LQTS phenotypes.
|
30591322 |
2019 |
|
rs17215500
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The R518X/KCNQ1 mutation is a common cause of autosomal recessive (Jervell and Lange Nielsen Syndrome- JLNS) and autosomal dominant long QT syndrome (LQTS) worldwide.
|
24552659 |
2014 |
|
rs17215500
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The R518X allele was previously associated with recessive long QT syndrome without deafness, but was present in a congenitally deaf proband in our study.
|
10737999 |
2000 |