LONG QT SYNDROME || Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)






Last Updated: Oct 24, 2016

• Genetic biomarkers for the risk of seizures in long QT syndrome.
  Auerbach David S, et al. Neurology 2016 10 (16) 1660-1668
• The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death.
  Tiziano Francesco Danilo et al. Frontiers in cardiovascular medicine 2016 328
• β-Blocker Adherence in Familial Long QT Syndrome.
  Waddell-Smith Kathryn E et al. Circulation. Arrhythmia and electrophysiology 2016 Aug 9(8)
• T-wave morphology can distinguish healthy controls from LQTS patients.
  Immanuel S A, et al. Physiological measurement 2016 9 (9) 1456-73
• Evaluation and Management of Athletes With Long QT Syndrome: An Evolved Paradigm.
  Gomez Andrew T et al. Sports health 2016 Aug
• Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.
  Garcia John et al. Frontiers in cardiovascular medicine 2016 320
• Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.
  Veltmann Christian, et al. Journal of the American Heart Association 2016 0 (7)
• Patient Recall, Interpretation, and Perspective of an Inconclusive Long QT Syndrome Genetic Test Result.
  Predham Sarah et al. Journal of genetic counseling 2016 Jul
• The role of mutations in the SCN5A gene in cardiomyopathies.
  Zaklyazminskaya Elena et al. Biochimica et biophysica acta 2016 Jul 1863(7 Pt B) 1799-805
• Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome.
  Burgos Mariana et al. Molecular diagnosis & therapy 2016 Jun
• Latent pathogenicity of the G38S polymorphism of KCNE1 K(+) channel modulator.
  Yamaguchi Yoshiaki, et al. Heart and vessels 2016 6
• The Influence of Pregnancy in Patients with Congenital Long QT Syndrome.
  Garg Lohit, et al. Cardiology in review 2016 3
• Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?
  Izumi Gaku, et al. Pediatric cardiology 2016 4
• KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
  Vyas Bijal, et al. American journal of medical genetics. Part A 2016 4
• Molecular autopsy finds killer mutation- Sleuthing researchers focus genomic technology on unexplained deaths
  San Diego Union Tribune, March 4, 2016

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Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB