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Genotype and severity of long QT syndrome.

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  • Author(s): Towbin JA;Towbin JA; Wang Z; Li H
  • Source:
    Archives of pathology & laboratory medicine [Arch Pathol Lab Med] 2001 Jan; Vol. 125 (1), pp. 116-21.
  • Publication Type:
    Journal Article; Review
  • Language:
    English
  • Additional Information
    • Source:
      Publisher: College of American Pathologists Country of Publication: United States NLM ID: 7607091 Publication Model: Print Cited Medium: Print ISSN: 0003-9985 (Print) Linking ISSN: 00039985 NLM ISO Abbreviation: Arch. Pathol. Lab. Med. Subsets: Core Clinical (AIM); MEDLINE
    • Publication Information:
      Publication: Northfield, Ill. : College of American Pathologists
      Original Publication: Chicago, American Medical Assn.
    • Subject Terms:
    • Abstract:
      Objectives: To describe the state of the art of our understanding of the long QT syndromes and to provide the genetic correlation of clinical severity of patients with this disorder.
      Date Sources: In this review, we outline data that were obtained from work in our laboratory, as well as information reported in the literature.
      Study Selection: The information in this review spans the last decade; data were obtained from the studies that had the most impact, as well as from recent work at our laboratory.
      Data Extraction: The data reported herein were extracted from the world literature on sudden death and the clinical aspects of long QT syndrome. The genes identified to date, mutations in these genes, and the biophysical perturbations in the mutated ion channels, as well as the severity of disease, are detailed.
      Data Synthesis: The extracted data are described as a state-of-the-art review.
      Conclusions: The long QT syndromes, genetically heterogeneous disorders due to mutations in genes encoding ion channels, are relatively common causes of syncope and sudden death. The affected genes, along with the genetic background of individuals, determine the clinical severity of disease. An understanding of the mechanisms responsible for long QT syndrome is expected to enable development of specific therapies.
    • Number of References:
      78
    • Accession Number:
      0 (Cation Transport Proteins)
      0 (DNA-Binding Proteins)
      0 (ERG protein, human)
      0 (ERG1 Potassium Channel)
      0 (Ether-A-Go-Go Potassium Channels)
      0 (KCNH6 protein, human)
      0 (KCNQ Potassium Channels)
      0 (KCNQ1 Potassium Channel)
      0 (KCNQ1 protein, human)
      0 (NAV1.5 Voltage-Gated Sodium Channel)
      0 (Potassium Channels)
      0 (Potassium Channels, Voltage-Gated)
      0 (SCN5A protein, human)
      0 (Sodium Channels)
      0 (Trans-Activators)
      0 (Transcriptional Regulator ERG)
      0 (potassium channel protein I(sk))
    • Publication Date:
      Date Created: 20010111 Date Completed: 20010301 Latest Revision: 20161124
    • Publication Date:
      20201019
    • Accession Number:
      11151064
  • Citations
    • ABNT:
      TOWBIN, J. A.; WANG, Z.; LI, H. Genotype and severity of long QT syndrome. Archives of pathology & laboratory medicine, [s. l.], v. 125, n. 1, p. 116–121, 2001. Disponível em: http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdc&AN=11151064. Acesso em: 25 nov. 2020.
    • AMA:
      Towbin JA, Wang Z, Li H. Genotype and severity of long QT syndrome. Archives of pathology & laboratory medicine. 2001;125(1):116-121. Accessed November 25, 2020. http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdc&AN=11151064
    • APA:
      Towbin, J. A., Wang, Z., & Li, H. (2001). Genotype and severity of long QT syndrome. Archives of Pathology & Laboratory Medicine, 125(1), 116–121.
    • Chicago/Turabian: Author-Date:
      Towbin, J A, Z Wang, and H Li. 2001. “Genotype and Severity of Long QT Syndrome.” Archives of Pathology & Laboratory Medicine 125 (1): 116–21. http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdc&AN=11151064.
    • Harvard:
      Towbin, J. A., Wang, Z. and Li, H. (2001) ‘Genotype and severity of long QT syndrome’, Archives of pathology & laboratory medicine, 125(1), pp. 116–121. Available at: http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdc&AN=11151064 (Accessed: 25 November 2020).
    • Harvard: Australian:
      Towbin, JA, Wang, Z & Li, H 2001, ‘Genotype and severity of long QT syndrome’, Archives of pathology & laboratory medicine, vol. 125, no. 1, pp. 116–121, viewed 25 November 2020, .
    • MLA:
      Towbin, J. A., et al. “Genotype and Severity of Long QT Syndrome.” Archives of Pathology & Laboratory Medicine, vol. 125, no. 1, Jan. 2001, pp. 116–121. EBSCOhost, search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdc&AN=11151064.
    • Chicago/Turabian: Humanities:
      Towbin, J A, Z Wang, and H Li. “Genotype and Severity of Long QT Syndrome.” Archives of Pathology & Laboratory Medicine 125, no. 1 (January 2001): 116–21. http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdc&AN=11151064.
    • Vancouver/ICMJE:
      Towbin JA, Wang Z, Li H. Genotype and severity of long QT syndrome. Archives of pathology & laboratory medicine [Internet]. 2001 Jan [cited 2020 Nov 25];125(1):116–21. Available from: http://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdc&AN=11151064