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

M Christiansen, N Tonder, LA Larsen, PS Andersen, H Simonsen, N Oyen, JK Kanters, JR Jacobsen, I Fosdal, Göran GWE Wettrell, K Kjeldsen

Research output: Contribution to journalArticlepeer-review

68 Citations (SciVal)

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.
Original languageEnglish
Pages (from-to)433-434
JournalAmerican Journal of Cardiology
Volume95
Issue number3
DOIs
Publication statusPublished - 2005

Subject classification (UKÄ)

  • Cardiac and Cardiovascular Systems

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