|
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 |
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 |
Partial restoration of the long QT syndrome associated KCNQ1 A341V mutant by the KCNE1 β-subunit.
|
21854832 |
2011 |
|
rs12720459
|
|
T |
0.770 |
CausalMutation |
CLINVAR |
Partial restoration of the long QT syndrome associated KCNQ1 A341V mutant by the KCNE1 β-subunit.
|
21854832 |
2011 |
|
rs12720459
|
|
A |
0.770 |
CausalMutation |
CLINVAR |
In a South African (SA) founder population, we identified a common LQTS type 1 (LQT1)-causing mutation (KCNQ1-A341V) associated with high clinical severity.
|
17984373 |
2007 |
|
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 |
|
rs12720459
|
|
T |
0.770 |
CausalMutation |
CLINVAR |
Phenotype reveals genotype in a Greek long QT syndrome family.
|
16627448 |
2006 |
|
rs12720459
|
|
T |
0.770 |
CausalMutation |
CLINVAR |
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population.
|
16246960 |
2005 |
|
rs12720459
|
|
A |
0.770 |
CausalMutation |
CLINVAR |
Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome.
|
15028050 |
2004 |
|
rs12720459
|
|
T |
0.770 |
CausalMutation |
CLINVAR |
C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.
|
10086971 |
1999 |
|
rs12720459
|
|
T |
0.770 |
CausalMutation |
CLINVAR |
Functional effects of mutations in KvLQT1 that cause long QT syndrome.
|
10376919 |
1999 |
|
rs12720459
|
|
A |
0.770 |
CausalMutation |
CLINVAR |
Functional effects of mutations in KvLQT1 that cause long QT syndrome.
|
10376919 |
1999 |
|
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
|
|
T |
0.770 |
CausalMutation |
CLINVAR |
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
|
8528244 |
1996 |
|
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 |
Instability of KCNE1-D85N that causes long QT syndrome: stabilization by verapamil.
|
24499369 |
2014 |
|
rs1805128
|
|
T |
0.750 |
SusceptibilityMutation |
CLINVAR |
Verapamil may be of a therapeutic value in LQTS patients via preventing degradation of KCNE1-D85N.
|
24499369 |
2014 |
|
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 |
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 |
The KCNE1-D85N polymorphism was significantly more frequent in our LQTS probands.
|
19695459 |
2009 |
|
rs1805128
|
|
T |
0.750 |
SusceptibilityMutation |
CLINVAR |
D85N, a KCNE1 polymorphism, is known to be a functional variant associated with drug-induced LQTS.
|
19695459 |
2009 |
|
rs1805128
|
|
T |
0.750 |
SusceptibilityMutation |
CLINVAR |
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.
|
14760488 |
2004 |
|
rs1805128
|
|
T |
0.750 |
SusceptibilityMutation |
CLINVAR |
Compound mutations: a common cause of severe long-QT syndrome.
|
15051636 |
2004 |