Functional effects of mutations in KvLQT1 that cause long QT syndrome

Journal of Cardiovascular Electrophysiology

Volumn 10, Issue 6, 1999, Pages 817-826

  Wang, Z ^a   Tristani Firouzi, M ^b   Xu, Q ^a   Lin, M ^a   Keating, M T ^a,c   Sanguinetti, M C ^a,d  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b Department of Pediatrics ^*  (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d Eccles Prog in Hum Molec B/G   (United States)

Author keywords

Electrophysiology; Long QT syndrome; Potassium channel

Indexed keywords

ION CHANNEL; POTASSIUM CHANNEL;

ACTION POTENTIAL; ANIMAL CELL; ARTICLE; ELECTROPHYSIOLOGY; GENE MUTATION; LONG QT SYNDROME; MEMBRANE DEPOLARIZATION; NONHUMAN; OOCYTE; PRIORITY JOURNAL; VOLTAGE CLAMP; XENOPUS;

EID: 0033065231     PISSN: 10453873     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1540-8167.1999.tb00262.x     Document Type: Article

References (32)

1. 1. Wang Q, Shen J, Splawski I, et al: SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995;80:805-811.
2. 2. Curran ME, Splawski I, Timothy KW, et al: A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 1995;80:795-804.
3. 3. Wang Q, Curran ME, Splawski I, et al: Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet 1996; 12:17-23.
4. Ks function. Nat Genet 1997;17:338-340.
5. 5. Splawski I, Timothy KW, Vincent GM, et al: Molecular basis of the long-QT syndrome associated with deafness. N Engl J Med 1997;336:1562-1567.
6. 6. Schulze-Bahr E, Wang Q, Wedekind H, et al: KCNE1 mutations cause Jervell and Lange-Nielsen syndrome. Nat Genet 1997;17:267-268.
7. 7. Keating M, Atkinson D, Dunn C, et al: Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. Science 1991;252:704-706.
8. Ks potassium channel. Nature 1996;384:80-83.
9. Ks cardiac potassium channel. Nature 1996;384:78-80.
10. 10. Shalaby FY, Levesque PC, Yang W-P, et al: Dominant-negative KVLQT1 mutations underlie the LQT1 form of long QT syndrome. Circulation 1997;96:1733-1736.
11. + channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. EMBO J 1997;16:5472-5479.
12. + channel mutations found in inherited cardiac arrhythmias. Hum Mol Genet 1997;6:1943-1949.
13. 13. Sarkar G, Sommer SS: The "megaprimer" method of site-directed mutagenesis. Biotechniques 1990;8:404-407.
14. 14. Yang WP, Levesque PC, Little WA, et al: KvLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias. Proc Natl Acad Sci 1997;94:4017-4021.
15. Kr potassium channel. Cell 1995;81:299-307.
16. 16. Dumont JN: Oogenesis in Xenopus laevis (Daudin). J Morphol 1972;136:153-180.
17. + channel alter ion selectivity and open-channel block. Neuron 1991;7:403-408.
18. + channel KvLQT1 is eliminated by association with minK subunits. J Physiol 1998;510:37-45.
19. c intervals in carriers of the gene for the long-QT syndrome. N Engl J Med 1992;327:846-852.
20. sK channels by the chromanol 293B. Eur J Physiol 1996; 432:1094-1096.
21. Ks in guinea pig ventricular myocytes. Circulation 1996;94:1529.
22. sK and KvLQT1: Mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet 1997;6:2179-2185.
23. sK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of the long-QT syndrome. Circulation 1998;97:142-146.
24. 24. Jiang M, Tseng-Crank J, Tseng G-N: Suppression of slow delayed rectifier current by a truncated isoform of KvLQT1 cloned from normal human heart. J Biol Chem 1997;272:24109-24112.
25. 25. Zareba W, Moss AJ, Schwartz PJ, et al: Influence of the genotype on the clinical course of the long-QT syndrome. N Engl J Med 1998;14:960-965.
26. 26. Moss AJ, Zareba W, Benhorin J, et al: ECG T wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation 1995;92:2929-2934.
27. 27. Roden DM, Lazzara R, Rosen M, et al: Multiple mechanisms in the long QT syndrome: Current knowledge, gaps, and future directions. Circulation 1996;94:1996-2012.
28. 28. Saarinen K, Swan H, Kainulainen K, et al: Molecular genetics of the long QT syndrome: Two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred. Hum Mutat 1998; 11:158-165.
29. 29. de Jager T, Corbertt C, Badenhorst J, et al: Evidence of a long QT founder gene with varying phenotypic expression in South African families. J Med Genet 1996; 33:567-573.
30. 30. Slesinger PA, Jan YN, Jan LY: The S4-S5 loop contributes to the ion selective pore of potassium channels. Neuron 1993;11:739-749.
31. + channel. Nature 1991;353:86-90.
32. + currents. Mol Pharmacol 1998;53:220-230.