Article
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Circulation - 5 Sept 2000
Splawski I, Shen J, Timothy K W, Lehmann M H, Priori S, Robinson J L, Moss A J, Schwartz P J, Towbin J A, Vincent G M, Keating M T
Abstract excerpt
BACKGROUND: Long-QT Syndrome (LQTS) is a cardiovascular disorder characterized by prolongation of the QT interval on ECG and presence of syncope, seizures, and sudden death. Five genes have been implicated in Romano-Ward syndrome, the autosomal dominant form of LQTS: KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Mutations in KVLQT1 and KCNE1 also cause the Jervell and Lange-Nielsen syndrome, a form of LQTS associated...
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