The molecular basis of long QT syndrome and prospects for therapy

Schwartz, P.J. et al. (1995) The long QT syndrome, in Cardiac Electrophysiology: From Cell to Bedside (Zipes, D.F. and Jalife, J., eds), pp. 788–811 Wang, 1995, Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia, Hum. Mol. Genet., 4, 1603, 10.1093/hmg/4.9.1603 Bazett, 1920, An analysis of the time-relationships of electrocardiograms, Heart, 7, 353 Schwartz, 1993, Diagnostic criteria for the long QT syndrome: an update, Circulation, 88, 782, 10.1161/01.CIR.88.2.782 Keating, 1991, Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene, Science, 252, 704, 10.1126/science.1673802 Keating, 1991, Consistent linkage of the long QT syndrome to the Harvey ras-1 locus on chromosome 11, Am. J. Hum. Genet., 49, 1335 Towbin, 1992, Romano–Ward long QT syndrome (RWLQTS): evidence of genetic heterogeneity, Pediatr. Res., 31, 23A Benhorin, 1993, Evidence of genetic heterogeneity in the long QT syndrome, Science, 260, 1960, 10.1126/science.8316839 Curran, 1993, Locus heterogeneity of autosomal dominant long QT syndrome, J. Clin. Invest., 92, 799, 10.1172/JCI116653 Towbin, 1994, Evidence of genetic heterogeneity in Romano–Ward long QT syndrome: analysis of 23 families, Circulation, 90, 2635, 10.1161/01.CIR.90.6.2635 Jiang, 1994, Two long QT syndrome loci map to chromosome 3 and 7 with evidence for further heterogeneity, Nat. Genet., 8, 141, 10.1038/ng1094-141 Schott, 1995, Mapping of a gene for a long QT syndrome to chromosome 4q25–27, Am. J. Hum. Genet., 57, 1114 Schulze-Bahr, 1997, KCNE1 mutations cause Jervell and Lange-Nielsen syndrome, Nat. Genet., 17, 267, 10.1038/ng1197-267 Splawski, 1997, Mutations in the hminK gene cause long QT syndrome and suppress IKs function, Nat. Genet., 17, 338, 10.1038/ng1197-338 Wang, 1996, Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias, Nat. Genet., 12, 17, 10.1038/ng0196-17 Russell, 1996, KVLQT1 mutations in three familial or sporadic long QT syndrome, Hum. Mol. Genet., 9, 1319, 10.1093/hmg/5.9.1319 Tanaka, 1997, Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome, Circulation, 95, 565, 10.1161/01.CIR.95.3.565 Wang, 1996, Mutations in a novel potassium channel, KVLQT1, cause an inherited cardiac arrhythmia, long QT syndrome, Am. J. Hum. Genet., A, 292 Li, 1998, New mutations in the KVLQT1 potassium channel that cause long QT syndrome, Circulation, 97, 1264, 10.1161/01.CIR.97.13.1264 Barhanin, 1996, KVLQT1 and IsK (minK) proteins associate to form the IKs cardiac potassium current, Nature, 384, 78, 10.1038/384078a0 Sanguinetti, 1996, Coassembly of KvLQT1 and minK (IsK) proteins to form cardiac IKs potassium channel, Nature, 384, 80, 10.1038/384080a0 Takumi, 1988, Cloning of a membrane protein that induces a slow voltage-gated potassium current, Science, 252, 1042, 10.1126/science.3194754 Shalaby, 1997, Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome, Circulation, 96, 1733, 10.1161/01.CIR.96.6.1733 Neyroud, 1997, A novel mutation on the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome, Nat. Genet., 15, 186, 10.1038/ng0297-186 Splawski, 1997, Brief report: molecular basis of the long-QT syndrome associated with deafness, New Engl. J. Med., 336, 1562, 10.1056/NEJM199705293362204 Warmke, 1994, A family of potassium channel genes related to Eag in Drosophila and mammals, Proc. Natl. Acad. Sci. U. S. A., 91, 3438, 10.1073/pnas.91.8.3438 Trudeau, 1995, HERG, a human inward rectifier in the voltage-gated potassium channel family, Science, 269, 92, 10.1126/science.7604285 Curran, 1995, A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome, Cell, 80, 795, 10.1016/0092-8674(95)90358-5 Schulze-Bahr, 1995, The long-QT syndrome, New Engl. J. Med., 333, 1783, 10.1056/NEJM199512283332616 Dausse, 1996, A mutation in HERG associated with notched T waves in long QT syndrome, J. Mol. Cell. Cardiol., 28, 1609, 10.1006/jmcc.1996.0151 Benson, 1996, Missense mutation in the pore region of HERG causes familiar long QT syndrome, Circulation, 93, 1791, 10.1161/01.CIR.93.10.1791 Sanguinetti, 1995, A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel, Cell, 81, 299, 10.1016/0092-8674(95)90340-2 McDonald, 1997, A minK–HERG complex regulates the cardiac potassium current IKr, Nature, 388, 289, 10.1038/40882 Sanguinetti, 1996, Spectrum of HERG K+-channel dysfunction in an inherited cardiac arrhythmia, Proc. Natl. Acad. Sci. U. S. A., 93, 2208, 10.1073/pnas.93.5.2208 Wang, 1995, SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome, Cell, 80, 805, 10.1016/0092-8674(95)90359-3 Gellens, 1992, Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel, Proc. Natl. Acad. Sci. U. S. A., 89, 554, 10.1073/pnas.89.2.554 Bennett, 1995, Molecular mechanism for an inherited cardiac arrhythmia, Nature, 376, 683, 10.1038/376683a0 Dumain, 1996, Multiple mechanisms of sodium channel-linked long QT syndrome, Circ. Res., 78, 916, 10.1161/01.RES.78.5.916 Roden, 1996, Multiple mechanisms in the long-QT syndrome: current knowledge, gaps, and future directions, Circulation, 94, 1996, 10.1161/01.CIR.94.8.1996 Antezelevitch, 1994, Clinical relevance of cardiac arrhythmias generated by afterdepolarization: role of M cells in the generation of U waves, triggered activity and torsade de pointes, J. Am. Coll. Cardiol., 23, 259, 10.1016/0735-1097(94)90529-0 Vincent, 1992, The spectrum of symptoms and QT intervals in carriers of the gene for the long QT syndrome, New Engl. J. Med., 327, 846, 10.1056/NEJM199209173271204 Schwartz, 1995, Long QT syndrome patients with mutations of SCN5A and HERG have differential responses to Na+ channel blockade and to increase in heart rate, Circulation, 92, 3381, 10.1161/01.CIR.92.12.3381 Compton, 1996, Genetically defined therapy of inherited long-QT syndrome, Circulation, 94, 1018, 10.1161/01.CIR.94.5.1018