|
Long QT Syndrome 1
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
Long QT Syndrome 1
|
|
0.850 |
GeneticVariation
|
BEFREE |
Enhanced effects of isoflurane on the long QT syndrome 1-associated A341V mutant.
|
25585005 |
2015 |
|
Long QT Syndrome 1
|
|
0.850 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
Long QT Syndrome 1
|
|
0.850 |
GeneticVariation
|
BEFREE |
The study assesses complexity of the cardiac control directed to the sinus node and to ventricles in long QT syndrome type 1 (LQT1) patients with KCNQ1-A341V mutation.
|
24705789 |
2014 |
|
Long QT Syndrome 1
|
|
0.850 |
GeneticVariation
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
Long QT Syndrome 1
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes.
|
23994779 |
2013 |
|
Long QT Syndrome 1
|
|
0.850 |
GeneticVariation
|
UNIPROT |
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).
|
21810866 |
2011 |
|
Long QT Syndrome 1
|
|
0.850 |
GeneticVariation
|
BEFREE |
Seventy-eight patients, all with a single KCNQ1-A341V mutation, from 21 families and 8 countries were compared with 166 SA patients with A341V and with 205 non-A341V LQT1 patients.
|
17984373 |
2007 |
|
Long QT Syndrome 1
|
|
0.850 |
GeneticVariation
|
BEFREE |
Does pregnancy increase cardiac risk for LQT1 patients with the KCNQ1-A341V mutation?
|
17010804 |
2006 |
|
Long QT Syndrome 1
|
|
0.850 |
GeneticVariation
|
BEFREE |
This study also unexpectedly determined that KCNQ1-A341V is associated with greater risk than that reported for large databases of LQT1 patients: A341V MCs are more symptomatic by age 40 years (79% versus 30%) and become symptomatic earlier (7+/-4 versus 13+/-9 years, both P<0.001).
|
16246960 |
2005 |
|
Long QT Syndrome 1
|
|
0.850 |
CausalMutation
|
CLINVAR |
|
|
|
|
Long QT Syndrome 1
|
|
0.850 |
CausalMutation
|
CLINVAR |
|
|
|
|
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 |