Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function variants in the KCNH2-encoded Kv11.1 potassium channel cause long QT syndrome (LQTS) type 2 (LQT2).
|
31493592 |
2020 |
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Sixteen genes such as the KCNQ1, KCNH2, and SCN5A have been reported for association with LQTS.
|
31565860 |
2020 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our study was a multicenter observational case series of 148 pregnancies from 103 families (80 mothers, 23 fathers) with familial long QT syndrome (60 with LQT1, 29 with LQT2, 14 with LQT3) who were recruited from 11 international centers with expertise in hereditary heart rhythm diseases, pediatric and/or adult electrophysiology, and high-risk pregnancies.
|
31520628 |
2020 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The sodium channel gene SCN5A and potassium channel genes KCNQ1 and KCNH2 have been widely reported to be genetic risk factors for arrhythmia including Brugada syndrome and long QT syndrome (LQTS).
|
31751991 |
2020 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Functional analysis of KCNH2 gene mutations of type 2 long QT syndrome in larval zebrafish using microscopy and electrocardiography.
|
30047011 |
2019 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, short-long RR pattern increased APD dispersion only in LQT2 rabbits through heterogeneous APD restitution and the short-term memory, underscoring the genotype-specific triggering of arrhythmias in LQT syndrome.
|
31619700 |
2019 |
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Patients had LQTS type 1 (LQT1), type 2 (LQT2), and type 3 (LQT3) (616 probands and 508 family members), with KCNQ1 (n = 521), KCNH2 (n = 487) and SCN5A (n = 116) genes.
|
30758498 |
2019 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in KCNH2 that cause a reduction of the repolarizing current can result in cardiac arrhythmias associated with long-QT syndrome.
|
31484079 |
2019 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In mutation carriers, the level of RNF207 mRNA expression was much lower than controls, which may affect potassium channel KCNH2 and lead to LQTS and syncope.
|
30542207 |
2019 |
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
ANK2 functionally interacts with KCNH2 aggravating long QT syndrome in a double mutation carrier.
|
30929919 |
2019 |
Long QT Syndrome
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Our results show that ribociclib, but not palbociclib, could act by down-regulating the expression of KCNH2 (encoding for potassium channel hERG) and up-regulating SCN5A and SNTA1 (encoding for sodium channels Nav1.5 and syntrophin-α1, respectively), three genes associated with long QT syndrome.
|
31529317 |
2019 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The objective of this work was to study a type 2 long QT syndrome (LQTS2)-associated mutation (c.1600C > T in KCNH2, p.R534C in hERG) in CM-iPSC.
|
31844156 |
2019 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
As an exemplar, the c.1750G > A; p.Gly584Ser variant within the coding sequence of the KCNH2 gene implicated in Long QT Syndrome (LQTS), which occurred once in 500 whole genome sequences from this population, was investigated.
|
31358886 |
2019 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Long QT syndrome (LQTS) mutation carriers have elevated the risk of cardiac events even in the absence of QTc prolongation; however, mutation penetrance in patients with normal QTc may be reflected in abnormal T-wave shape, particularly in KCNH2 mutation carriers.
|
31579959 |
2019 |
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
The potential role of sodium channel blockers in patients with potassium channel-mediated long QT syndrome (ie, LQT1 and LQT2) has not been investigated in detail.
|
31006312 |
2019 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription.
|
31347270 |
2019 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our study consisted of 1,923 U.S. subjects from the Rochester-based LQTS Registry with genotype-positive LQT1 (n = 879), LQT2 (n = 807), and LQT3 (n = 237).
|
29504689 |
2018 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel intracellular transport-refractory mutations in KCNH2 identified in patients with symptomatic long QT syndrome.
|
29146210 |
2018 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death.
|
29881912 |
2018 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We therefore analysed variations in the LQTS-associated genes KCNQ1 (LQT1) and KCNH2 (LQT2) using cardiac blood and myocardial tissue from subjects having died suddenly during MP or NPS use to investigate the relationship between congenital genetic abnormalities and sudden death during illegal drug use.
|
29855564 |
2018 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
New onset seizures in a patient with Long QT Syndrome (LQTS2) and a pathogenic carboxyl-terminus frameshift variant of the KCNH2 gene.
|
29739726 |
2018 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
[<sup>11</sup>C]mHED-PET was performed in 25 patients with LQTS (LQT1: n=14; LQT2: n=11) and 20 healthy controls and correlated with clinical parameters.
|
28864717 |
2018 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Sequence variants in the ion channel genes KCNH2 and SCN5A may cause the cardiac disorder long QT syndrome (LQTS).
|
29214556 |
2018 |
Long QT Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.
|
29431731 |
2018 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Among the 70 patients enrolled (median age 41±2.1 years, 46% male), 36 were mutation carrier for LQTS (20 KCNQ1 and 16 KCNH2), and 34 were controls.
|
29688407 |
2018 |