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  • Title: Mutations in the HERG K+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome.
    Author: Christiansen M, Tønder N, Larsen LA, Andersen PS, Simonsen H, Oyen N, Kanters JK, Jacobsen JR, Fosdal I, Wettrell G, Kjeldsen K.
    Journal: Am J Cardiol; 2005 Feb 01; 95(3):433-4. PubMed ID: 15670565.
    Abstract:
    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.
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