Article
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
BMC medical genetics - 7 Mar 2014
Christiansen Michael, Hedley Paula L, Theilade Juliane, Stoevring Birgitte, Leren Trond P, Eschen Ole, Sørensen Karina M, Tybjærg-Hansen Anne, Ousager Lilian B, Pedersen Lisbeth N, Frikke-Schmidt Ruth, Aidt Frederik H, Hansen Michael G, Hansen Jim, Bloch Thomsen Poul E, Toft Egon, Henriksen Finn L, Bundgaard Henning, Jensen Henrik K, Kanters Jørgen K
Abstract excerpt
BACKGROUND: Long QT syndrome (LQTS) is a cardiac ion channelopathy which presents clinically with palpitations, syncope or sudden death. More than 700 LQTS-causing mutations have been identified in 13 genes, all of which encode proteins involved in the execution of the cardiac action potential. The most frequently affected genes, covering > 90% of cases, are KCNQ1, KCNH2 and SCN5A. METHODS: We describe 64...
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