[HTML][HTML] The long QT syndrome family of cardiac ion channelopathies: a HuGE review
SM Modell, MH Lehmann - Genetics in Medicine, 2006 - Elsevier
Long QT syndrome (LQTS) refers to a group of “channelopathies”–disorders that affect
cardiac ion channels. The “family” concept of syndromes has been applied to the multiple
LQTS genotypes, LQT1-8, which exhibit converging mechanisms leading to QT prolongation
and slowed ventricular repolarization. The 470+ allelic mutations induce loss-of-function in
the passage of mainly K+ ions, and gain-of-function in the passage of Na+ ions through their
respective ion channels. Resultant early after depolarizations can lead to a polymorphic …
cardiac ion channels. The “family” concept of syndromes has been applied to the multiple
LQTS genotypes, LQT1-8, which exhibit converging mechanisms leading to QT prolongation
and slowed ventricular repolarization. The 470+ allelic mutations induce loss-of-function in
the passage of mainly K+ ions, and gain-of-function in the passage of Na+ ions through their
respective ion channels. Resultant early after depolarizations can lead to a polymorphic …