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      Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

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          Abstract

          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 with deafness, a phenotypic abnormality inherited in an autosomal recessive fashion.

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          Author and article information

          Journal
          Circulation
          Circulation
          Ovid Technologies (Wolters Kluwer Health)
          1524-4539
          0009-7322
          Sep 05 2000
          : 102
          : 10
          Affiliations
          [1 ] Department of Human Genetics, Howard Hughes Medical Institute, Division of Cardiology, Salt Lake City, Utah, USA. igor.splawski@genetics.utah.edu
          Article
          10.1161/01.cir.102.10.1178
          10973849
          aa3c4941-79e2-4ec0-89bd-1c3ebf899867
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