|
rs12720459
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Enhanced effects of isoflurane on the long QT syndrome 1-associated A341V mutant.
|
25585005 |
2015 |
|
rs12720459
|
|
|
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 |
|
rs12720459
|
|
|
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 |
|
rs12720459
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Does pregnancy increase cardiac risk for LQT1 patients with the KCNQ1-A341V mutation?
|
17010804 |
2006 |
|
rs12720459
|
|
|
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 |
|
rs199472804
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Generation of eight human induced pluripotent stem cell (iPSC) lines from familial Long QT Syndrome type 1 (LQT1) patients carrying KCNQ1 c.1697C>A mutation (NUIGi005-A, NUIGi005-B, NUIGi005-C, NUIGi006-A, NUIGi006-B, NUIGi006-C, NUIGi007-A, and NUIGi007-B).
|
31415974 |
2019 |
|
rs199473457
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We conclude that R231C is a pleiotropic missense mutation capable of LQT1 expression, AF expression, or both.
|
20850564 |
2011 |
|
rs120074178
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene.
|
20660394 |
2010 |
|
rs120074193
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The present studies show the basis of change in function of the selected S5 segment as a result of G269S mutation which is associated with LQT1 syndrome.
|
20044973 |
2010 |
|
rs199472755
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Our results suggest that T322M is a novel mutation that caused RWS with high intrafamilial variability in the heterozygous carriers and typical JLNS in the homozygous carriers within this Chinese family.
|
18400097 |
2008 |
|
rs120074191
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Three mutations (Y111C, L114P and P117L) implicated in inherited Romano-Ward LQT1 syndrome, are embedded within this domain.
|
17053194 |
2006 |
|
rs1800171
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We previously reported that a synonymous mutation, c.1032G>A, p.A344Aspl, in KCNQ1 is most commonly identified in genotyped patients with LQT1 in Japan and the aberrant splicing was analyzed in the lymphocytes isolated from patients' blood samples.
|
29857160 |
2018 |
|
rs151344631
|
|
|
0.710 |
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 |
|
rs199472710
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We identified a multigenerational LQT1 family whereby 79% of the patients genotype-positive for p.Ile235Asn-KCNQ1 (I235N-Kv7.1) have concealed LQT1.
|
24269949 |
2014 |
|
rs199472754
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Extensive genotype-phenotype analyses of LQT1 patients showed that T322M-, T322A-, or G325R-Kv7.1 confers a high risk for LQT1-related cardiac events.
|
23092362 |
2012 |
|
rs199472756
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Extensive genotype-phenotype analyses of LQT1 patients showed that T322M-, T322A-, or G325R-Kv7.1 confers a high risk for LQT1-related cardiac events.
|
23092362 |
2012 |
|
rs397508097
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The nonsense mutations R518X-KCNQ1 and Q530X-KCNQ1 cause LQT1 (long-QT syndrome type 1) and result in a complete loss of I(Ks) channel function.
|
22309168 |
2012 |
|
rs199472702
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The deafness-associated Jervell and Lange- Nielsen syndrome (JLNS) mutation KCNE1(D76N) impairs KCNQ4-function whereas the Romano-Ward syndrome (RWS) mutant KCNE1(S74L), which shows normal hearing in patients, does not impair KCNQ4 channel function.
|
16914890 |
2006 |
|
rs199472762
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A novel mutation (P343S) identified in the KCNQ1 subunit gene of three members of a RWS family showed a dominant-negative effect on native IKs currents leading to prolongation of the heart repolarisation and possibly increases the risk of malign arrhythmias with sudden cardiac death.
|
15511625 |
2004 |