|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Cardiac delayed rectifier potassium channel dysfunction due to the human ether‑à‑go‑go‑related gene (hERG) mutation causes congenital LQTS type 2.
|
30628647 |
2019 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Two variants in the KCNH2 gene (p.D803Y and p.D46F) and one in the SCN5A gene (G1391R) were in amino acid (AA) position which up to present has not been reported in LQTS.
|
30244407 |
2018 |
|
Congenital long QT syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.
|
29431731 |
2018 |
|
Congenital long QT syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
|
28349240 |
2017 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that the novel KCNH2-C108Y variant can be a pathogenic LQTS mutation, whereas KCNQ1-p.R583H, KCNH2-p.K897T, and KCNE1-p.G38S could be LQTS modifiers.
|
28749435 |
2017 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote.
|
27816319 |
2017 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.
|
26669661 |
2016 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We describe a case of torsade de pointes (TdP) caused by sevoflurane in a patient with c-LQTS genotype 2 (LQT2).
|
27555138 |
2016 |
|
Congenital long QT syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.
|
26669661 |
2016 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Impact of Updated Diagnostic Criteria for Long QT Syndrome on Clinical Detection of Diseased Patients: Results From a Study of Patients Carrying Gene Mutations.
|
29766885 |
2016 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
|
26187847 |
2015 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
The enigmatic cytoplasmic regions of KCNH channels.
|
25158096 |
2015 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Congenital long QT syndrome with compound mutations in the KCNH2 gene.
|
24057343 |
2014 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Congenital long QT syndrome with compound mutations in the KCNH2 gene.
|
24057343 |
2014 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The chromosome 7-linked type 2 congenital LQTS (LQT2) is caused by gene mutations in the human ether-a-go-go-related gene (HERG).
|
23981618 |
2013 |
|
Congenital long QT syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.
|
23303164 |
2013 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
|
23631430 |
2013 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.
|
23303164 |
2013 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The medical records of 196 consecutive patients with symptomatic LQTS (age, 32 ± 19 years; female, n=133; LQT1, n=86; LQT2, n=95; LQT3, n=15) who were genotyped between 1979 and 2006 at 2 major Japanese institutions were retrospectively analyzed.
|
22785222 |
2012 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.
|
22949429 |
2012 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.
|
23158531 |
2012 |
|
Congenital long QT syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
|
23098067 |
2012 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Screening of congenital long QT syndrome (LQTS) genes revealed that she was a heterozygous carrier of a novel KCNH2 mutation, c.G238C.
|
21496174 |
2011 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Mutation and gender-specific risk in type 2 long QT syndrome: implications for risk stratification for life-threatening cardiac events in patients with long QT syndrome.
|
21440677 |
2011 |
|
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Congenital long QT syndrome 2 (LQT2) is caused by loss-of-function mutations in the human ether-á-go-go-related gene (hERG) voltage-gated potassium (K(+)) channel. hERG channels have slow deactivation kinetics that are regulated by an N-terminal Per-Arnt-Sim (PAS) domain.
|
21536673 |
2011 |