|
Long QT Syndrome
|
|
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 |
|
Long QT Syndrome
|
|
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 |
|
Long QT Syndrome
|
|
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 |
|
Long QT Syndrome
|
|
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 |
|
Long QT Syndrome
|
|
0.770 |
GeneticVariation
|
BEFREE |
Partial restoration of the long QT syndrome associated KCNQ1 A341V mutant by the KCNE1 β-subunit.
|
21854832 |
2011 |
|
Long QT Syndrome
|
|
0.770 |
CausalMutation
|
CLINVAR |
Partial restoration of the long QT syndrome associated KCNQ1 A341V mutant by the KCNE1 β-subunit.
|
21854832 |
2011 |
|
Long QT Syndrome
|
|
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 |
|
Long QT Syndrome
|
|
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 |
|
Long QT Syndrome
|
|
0.770 |
CausalMutation
|
CLINVAR |
Phenotype reveals genotype in a Greek long QT syndrome family.
|
16627448 |
2006 |
|
Long QT Syndrome
|
|
0.770 |
CausalMutation
|
CLINVAR |
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population.
|
16246960 |
2005 |
|
Long QT Syndrome
|
|
0.770 |
CausalMutation
|
CLINVAR |
Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome.
|
15028050 |
2004 |
|
Long QT Syndrome
|
|
0.770 |
CausalMutation
|
CLINVAR |
C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.
|
10086971 |
1999 |
|
Long QT Syndrome
|
|
0.770 |
CausalMutation
|
CLINVAR |
Functional effects of mutations in KvLQT1 that cause long QT syndrome.
|
10376919 |
1999 |
|
Long QT Syndrome
|
|
0.770 |
CausalMutation
|
CLINVAR |
Functional effects of mutations in KvLQT1 that cause long QT syndrome.
|
10376919 |
1999 |
|
Long QT Syndrome
|
|
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 |
|
Long QT Syndrome
|
|
0.770 |
CausalMutation
|
CLINVAR |
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
|
8528244 |
1996 |