Referenced in: none

Automatically associated channels: Kv11.1 , Kv7.1

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

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

Journal, date & volume: Am. J. Cardiol., 2005 Feb 1 , 95, 433-4

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/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.