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39 results for “Long QT syndrome”
Long QT syndrome ECG analysis
<p>Automated analysis of ECGs obtained from patients with long QT syndrome (generated from arrhythmia study, Faculty of Medicine, The Chinese University of Hong Kong Project)</p> <p> </p> <p>Disclaimer: These datasets were generated during the course of academic research conducted at the Faculty of Medicine, The Chinese University of Hong Kong, which received ethics approval by The Joint Chinese University of Hong Kong – New Territories East Cluster Clinical Research Ethics Committee of the Hospital Authority. They have been anonymised and are deposited for further advancement of medical research in full compliance with University Regulations and Policy on Dataset Deposit and Sharing. For additional information: https://libguides.lib.cuhk.edu.hk/RDM/dataset_deposit</p> <p> </p> <p>Access is permitted for research purposes only.</p> <p><br> The use of these datasets should provide acknowledgements of such efforts by citing this DOI.</p>
Patch-clamp dataset (SyncroPatch384PE) for control variants used in a calibrated functional patch clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome
<p><span>Modern sequencing technologies have revolutionised our detection of gene variants. However, in most genes, including <em>KCNH2</em>, the majority of missense variants are currently classified as variants of uncertain significance (VUS). The aim of this study </span><span class="normaltextrun"><span>was to investigate the utility of an automated patch-clamp assay for aiding clinical variant classification in the <em>KCNH2 </em>gene. </span></span><span>The assay was designed according to recommendations proposed by the ClinGen Sequence Variant Interpretation Working Group. Thirty-one variants (17 pathogenic/likely pathogenic, 14 benign/likely benign) were classified internally as variant controls. They were heterozygously expressed in Flp-In HEK293 cells for assessing the effects of variant on current density and channel gating in order to determine the sensitive and specificity of the assay. All 17 pathogenic variant controls had reduced current density and 13/14 benign variant controls had normal current density, which enabled determination of normal and abnormal ranges for applying moderate or supporting evidence strength for VUS reclassification. Inclusion of <em>KCNH2</em> functional assay evidence enabled us to reclassify 6 out of 44 VUS as likely pathogenic. The high-throughput patch clamp assay can provide moderate strength evidence for clinical interpretation of clinical <em>KCNH2</em> variants and </span><span>demonstrates the value of developing automated patch clamp assays for functional characterisation of ion channel gene variants.</span></p>
Rescue of loss-of-function Long QT Syndrome-associated mutations in Kv7.1/KCNE1 by the endocannabinoid ARA-S
Open the record for dataset details and reuse information.
Frequency of Hypoglycemia in Children With Beta-blocker Treated Long QT-syndrome
ClinicalTrials.gov study NCT07233421. IPD Sharing: NO. Countries: 1. Publications: 4.
Long QT Syndrome-Population Genetics and Cardiac Studies
ClinicalTrials.gov study NCT00005176. IPD Sharing: Not stated. Countries: 1. Publications: 114.
Evaluation of the Effects of KCNQ1 Mutation on Insulin Tolerance and Obsessive Compulsive Features in Long QT Romano-Ward Syndrome Patients.
ClinicalTrials.gov study NCT04715256. IPD Sharing: YES. Countries: 1. Publications: 6.
Effect of Grapefruit on QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome
ClinicalTrials.gov study NCT02680080. IPD Sharing: NO. Countries: 1. Publications: 1.
Long QT Syndrome Screening in Newborns
ClinicalTrials.gov study NCT02412709. IPD Sharing: Not stated. Countries: 1. Publications: 52.
Long Term Prophylactic Therapy of Congenital Long QT Syndrome Type III (LQT3) With Ranolazine
ClinicalTrials.gov study NCT01728025. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Cardiac Rehabilitation of Children and Adolescent With Long QT Syndrome
ClinicalTrials.gov study NCT05964322. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Patch-clamp dataset (SyncroPatch384PE) for control variants used in a calibrated functional patch clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome
Open the record for dataset details and reuse information.
Study to Evaluate the Effect of Eleclazine on QT, Safety, and Tolerability in Participants With Long QT2 Syndrome
ClinicalTrials.gov study NCT02365506. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Study of LQT-1213 on QTc-induced Prolongation in Healthy Adult Subjects (Part1) and on Congenital Long QT in Patients Diagnosed With Type 2 or 3 Long QT Syndrome (Part 2).
ClinicalTrials.gov study NCT05906732. IPD Sharing: NO. Countries: 1. Publications: 0.
Long QT Syndrome and Sleep Apnea
ClinicalTrials.gov study NCT03678311. IPD Sharing: YES. Countries: 1. Publications: 0.
Electromechanical Profiling of the Long-QT Syndrome (LQTS)
ClinicalTrials.gov study NCT04074122. IPD Sharing: UNDECIDED. Countries: 0. Publications: 6.
Low Cost QTc Meter for Long QT Syndrome Screening in Primary Care
ClinicalTrials.gov study NCT04441892. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Effect of Eleclazine on Shortening of the QT Interval, Safety, and Tolerability in Adults With Long QT Syndrome Type 3
ClinicalTrials.gov study NCT02300558. IPD Sharing: Not stated. Countries: 8. Publications: 0.
The Long QT Syndrome in Pregnancy
ClinicalTrials.gov study NCT00488254. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Observational Study to Describe Health-Related Quality of Life and Measure Disease Burden Among Patients With Long QT Syndrome Types (LQTS) 2 and 3
ClinicalTrials.gov study NCT07075445. IPD Sharing: Not stated. Countries: 1. Publications: 0.
ECG Signal Collection From Long QT Syndrome, Wide QRS Complexes, Heart Failure, and Cardiac Resynchronization Patients
ClinicalTrials.gov study NCT00399412. IPD Sharing: Not stated. Countries: 1. Publications: 0.
ScienceDex guides
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OpenNeuro
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