Mutations in the HERG K+-ion channel: A novel link between long QT syndrome and sudden infant death syndrome

Michael Christiansen*, Niels Tønder, Lars A. Larsen, Paal S. Andersen, Henrik Simonsen, Nina Øyen, Jørgen K. Kanters, Joes R. Jacobsen, Inger Fosdal, Gøran Wettrell, Keld Kjeldsen

*Corresponding author af dette arbejde

    Publikation: Bidrag til tidsskriftArtikelForskningpeer review

    Abstrakt

    In a 7-week-old infant who experienced sudden infant death syndrome (SIDS), a novel missense mutation was identified in KCNH2, causing a lysine-to-glutamic acid amino acid substitution at position 101 (K101E). KCNH2 codes for the HERG ion channel and mutations in the gene are associated with congenital long-QT syndrome (LQTS), and in the family of this case of SIDS, the mutation was associated with Torsades de pointes tachycardia, making SIDS the most likely outcome of congenital LQTS.

    OriginalsprogEngelsk
    Sider (fra-til)433-434
    Antal sider2
    TidsskriftAmerican Journal of Cardiology
    Vol/bind95
    Udgave nummer3
    DOI
    StatusUdgivet - 1 feb. 2005

    Fingeraftryk

    Udforsk hvilke forskningsemner 'Mutations in the HERG K<sup>+</sup>-ion channel: A novel link between long QT syndrome and sudden infant death syndrome' indeholder.

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