|
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 |
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
|
UNIPROT |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
|
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 |
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 |
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
|
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 |
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 |
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
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
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 |
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 |
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 |
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 |
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 |
|
Congenital long QT syndrome
|
|
0.040 |
GeneticVariation
|
BEFREE |
The genetic spectrum of LQTS in 44 South African cLQTS patients (23 known to carry the South African founder mutation p.A341V in KCNQ1) was established by screening for mutations in the coding regions of KCNQ1, KCNH2, KCNE1, KCNE2 and SCN5A, the most frequently implicated cLQTS-causing genes (five-gene screening).
|
24217263 |
2013 |
|
Congenital long QT syndrome
|
|
0.040 |
GeneticVariation
|
BEFREE |
We tested the hypothesis that common variants in NOS1AP modify the risk of clinical manifestations and the degree of QT-interval prolongation in a South African LQTS population (500 subjects, 205 mutation carriers) segregating a founder mutation in KCNQ1 (A341V) using a family-based association analysis.
|
19822806 |
2009 |
|
Congenital long QT syndrome
|
|
0.040 |
GeneticVariation
|
BEFREE |
With this method, we identified the mutation(s) in all four patients with congenital LQTS (KCNQ1 A341V, KCNH2 N633D, KCNH2 2768Cdel and KCNE1 K70 N Y81C double mutations).
|
16155735 |
2005 |
|
Congenital long QT syndrome
|
|
0.040 |
GeneticVariation
|
BEFREE |
The LQTS-associated A341V mutation rendered the IKs channel more sensitive to the inhibitory effects of isoflurane compared to wild-type IKs in transfected cell lines; F340 is a key residue for anesthetic action.
|
25585005 |
2015 |
|
Miscarriage
|
|
0.010 |
GeneticVariation
|
BEFREE |
Women affected by the common KCNQ1-A341V mutation are at low risk for cardiac events during pregnancy and without excess risk of miscarriage; their infants delivered by C-section because of fetal distress are extremely likely to also be mutation carriers.Beta-blockers remain recommended.
|
17010804 |
2006 |
|
Cardiac Arrest
|
|
0.010 |
GeneticVariation
|
BEFREE |
PSMi001-A was derived from an asymptomatic KCNQ1-A341V mutation carrier, whereas PSMi008-A was derived from a healthy non-mutation carrier, heterozygous for the minor variant rs16847548 on the NOS1AP gene, associated with QT prolongation in the general population, and with a greater risk for cardiac arrest in the affected members of the SA founder population.
|
31398660 |
2019 |
|
cardiac event
|
|
0.010 |
GeneticVariation
|
BEFREE |
The rs11772585 T allele, found uniquely in the TACT haplotype, more than doubled (218%) the risk of cardiac events (P=0.002) in the presence of A341V; additionally, it increased disease severity (P=0.025).
|
25087618 |
2014 |
|
Long QT Syndrome 1
|
|
0.850 |
CausalMutation
|
CLINVAR |
|
|
|