메뉴 건너뛰기




Volumn 57, Issue 2, 2000, Pages 125-130

Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2

Author keywords

HERG; Jervell and Lange Nielsen syndrome; KVLQT1; Romano Ward syndrome; Sudden death; Ventricular tachycardia

Indexed keywords

ARGININE; ATENOLOL; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; GLYCINE; POTASSIUM CHANNEL;

EID: 0034003508     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.570206.x     Document Type: Article
Times cited : (16)

References (36)
  • 2
    • 9044240040 scopus 로고    scopus 로고
    • Positional cloning of a novel potassium channel gene: KVLQTI mutations cause cardiac arrhythmias
    • Wang Q. Curran ME, Splawski I et al. Positional cloning of a novel potassium channel gene: KVLQTI mutations cause cardiac arrhythmias. Nat Genet 1996: 12: 17-23.
    • (1996) Nat Genet , vol.12 , pp. 17-23
    • Wang, Q.1    Curran, M.E.2    Splawski, I.3
  • 3
    • 0031054075 scopus 로고    scopus 로고
    • A novel mutation in the potassium channel gene KVLQTI cause the Jervell and Lange Nielsen cardioauditory syndrome
    • Neyroud N, Tesson F, Denjoy I et al. A novel mutation in the potassium channel gene KVLQTI cause the Jervell and Lange Nielsen cardioauditory syndrome. Nat Genet 1997: 15: 186-189.
    • (1997) Nat Genet , vol.15 , pp. 186-189
    • Neyroud, N.1    Tesson, F.2    Denjoy, I.3
  • 6
    • 0031936234 scopus 로고    scopus 로고
    • Mutations of the gene for IsK associated with both Jervell and Lange Nielsen and Romano Ward forms of long QT syndrome
    • Duggal P, Vesely MR, Wattanasirichaigoon D, Villafane J, Kaushik V, Beggs AH. Mutations of the gene for IsK associated with both Jervell and Lange Nielsen and Romano Ward forms of long QT syndrome. Circulation 1998: 97: 142-146.
    • (1998) Circulation , vol.97 , pp. 142-146
    • Duggal, P.1    Vesely, M.R.2    Wattanasirichaigoon, D.3    Villafane, J.4    Kaushik, V.5    Beggs, A.H.6
  • 8
    • 0033574273 scopus 로고    scopus 로고
    • kr potassium channels with HERG and is associated with cardiac arrhythmia
    • kr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 1999: 97: 175-187.
    • (1999) Cell , vol.97 , pp. 175-187
    • Abbott, G.W.1    Sesti, F.2    Splawski, I.3
  • 9
    • 0028905566 scopus 로고
    • SCN5A mutations associated with an inherited cardiac arrhythmia. long QT syndrome
    • Wang Q, Shen J, Splawski I et al. SCN5A mutations associated with an inherited cardiac arrhythmia. long QT syndrome. Cell 1995: 80: 805-811.
    • (1995) Cell , vol.80 , pp. 805-811
    • Wang, Q.1    Shen, J.2    Splawski, I.3
  • 10
    • 0032546384 scopus 로고    scopus 로고
    • Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
    • Chen Q, Kirsch GE, Zhang D et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998: 392; 293-296.
    • (1998) Nature , vol.392 , pp. 293-296
    • Chen, Q.1    Kirsch, G.E.2    Zhang, D.3
  • 11
    • 0028819671 scopus 로고
    • Mapping of a gene for long QT syndrome to chromosome 4q25-27
    • Schott JJ, Charpentier F, Peltier S et al. Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet 1995: 57: 1114-1122.
    • (1995) Am J Hum Genet , vol.57 , pp. 1114-1122
    • Schott, J.J.1    Charpentier, F.2    Peltier, S.3
  • 12
    • 0343025877 scopus 로고    scopus 로고
    • LQTSdbase
    • LQTSdbase. http: www.ssi.dk en forskning lqtsdb lqtsdb.htm.
  • 13
    • 0033596882 scopus 로고    scopus 로고
    • C-terminal HERG mutations: The role of hypokalemia and a KCNQI-associated mutation in the cardiac event occurrence
    • Berthet M, Denjoy I, Donger C et al. C-terminal HERG mutations: the role of hypokalemia and a KCNQI-associated mutation in the cardiac event occurrence. Circulation 1999: 99: 1464-1470.
    • (1999) Circulation , vol.99 , pp. 1464-1470
    • Berthet, M.1    Denjoy, I.2    Donger, C.3
  • 14
    • 0033537885 scopus 로고    scopus 로고
    • Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation
    • Chen J, Zou A, Splawski I, Keating MT, Sanguinetti MC. Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation. J Biol Chem 1999: 274: 10113-10118.
    • (1999) J Biol Chem , vol.274 , pp. 10113-10118
    • Chen, J.1    Zou, A.2    Splawski, I.3    Keating, M.T.4    Sanguinetti, M.C.5
  • 15
    • 0032982314 scopus 로고    scopus 로고
    • Novel KCNQI and HERG missensc mutations in Dutch long QT families
    • Jongbloed RJ, Wilde AA, Geelen JL et al. Novel KCNQI and HERG missensc mutations in Dutch long QT families. Hum Mutat 1999: 13: 301-310.
    • (1999) Hum Mutat , vol.13 , pp. 301-310
    • Jongbloed, R.J.1    Wilde, A.A.2    Geelen, J.L.3
  • 16
    • 0032982405 scopus 로고    scopus 로고
    • High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: Robust multiplex analysis and pattern-based identification of allelic variants
    • Larsen LA. Christiansen M, Vuust J, Andersen PS. High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants. Hum Mutat 1999: 13: 318-327.
    • (1999) Hum Mutat , vol.13 , pp. 318-327
    • Larsen, L.A.1    Christiansen, M.2    Vuust, J.3    Andersen, P.S.4
  • 17
    • 0033514263 scopus 로고    scopus 로고
    • Low penetrance in the long QT syndrome: Clinical impact
    • Priori SG, Napolitano C, Schwartz PJ. Low penetrance in the long QT syndrome: clinical impact. Circulation 1999: 99: 529-533.
    • (1999) Circulation , vol.99 , pp. 529-533
    • Priori, S.G.1    Napolitano, C.2    Schwartz, P.J.3
  • 18
    • 0031948260 scopus 로고    scopus 로고
    • Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome
    • Itoh T, Tanaka T, Nagai R et al. Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome. Hum Genet 1998: 102: 435-439.
    • (1998) Hum Genet , vol.102 , pp. 435-439
    • Itoh, T.1    Tanaka, T.2    Nagai, R.3
  • 19
    • 0031948555 scopus 로고    scopus 로고
    • Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome
    • Satler CA, Vesely MR, Duggal P, Ginsburg GS, Beggs AH. Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. Hum Genet 1998: 102: 265-272.
    • (1998) Hum Genet , vol.102 , pp. 265-272
    • Satler, C.A.1    Vesely, M.R.2    Duggal, P.3    Ginsburg, G.S.4    Beggs, A.H.5
  • 21
    • 16944362512 scopus 로고    scopus 로고
    • Four novel KVLQTI and four novel HERG mutations in familial long QT syndrome
    • Tanaka T, Nagai R, Tomoike H et al. Four novel KVLQTI and four novel HERG mutations in familial long QT syndrome. Circulation 1997: 95: 565-567.
    • (1997) Circulation , vol.95 , pp. 565-567
    • Tanaka, T.1    Nagai, R.2    Tomoike, H.3
  • 22
    • 0030012835 scopus 로고    scopus 로고
    • Missense mutation in the pore region of HERG causes familial long QT syndrome
    • Benson DW, MacRae CA, Vesely MR et al. Missense mutation in the pore region of HERG causes familial long QT syndrome. Circulation 1996: 93: 1791-1795.
    • (1996) Circulation , vol.93 , pp. 1791-1795
    • Benson, D.W.1    MacRae, C.A.2    Vesely, M.R.3
  • 23
    • 0030218890 scopus 로고    scopus 로고
    • A mutation in HERG associated with notched T waves in long QT syndrome
    • Dausse E, Berthet M, Denjoy I et al. A mutation in HERG associated with notched T waves in long QT syndrome. J Mol Cell Cardiol 1996: 28: 1609-1615.
    • (1996) J Mol Cell Cardiol , vol.28 , pp. 1609-1615
    • Dausse, E.1    Berthet, M.2    Denjoy, I.3
  • 25
    • 0028292927 scopus 로고
    • A family of potassium channel genes related to eag in Drosophila and mammals
    • Warmke JW, Ganetzky B. A family of potassium channel genes related to eag in Drosophila and mammals. Proc Natl Acad Sci USA 1994: 91: 3438-3442.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 3438-3442
    • Warmke, J.W.1    Ganetzky, B.2
  • 27
    • 0001127258 scopus 로고
    • An analysis of the time-relations of electrocardiograms
    • Bazett HC. An analysis of the time-relations of electrocardiograms. Heart 1920: 7: 357-370.
    • (1920) Heart , vol.7 , pp. 357-370
    • Bazett, H.C.1
  • 28
    • 0026058182 scopus 로고
    • + -channel by mutation of the H5 region
    • + -channel by mutation of the H5 region. Nature 1991: 349: 700-704.
    • (1991) Nature , vol.349 , pp. 700-704
    • Yool, A.J.1    Schwarz, T.L.2
  • 29
    • 0033081030 scopus 로고    scopus 로고
    • Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQTI-related patients (LQTS1)
    • Wilde AA, Jongbloed RJ, Doevendans PA et al. Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQTI-related patients (LQTS1), J Am Coll Cardiol 1999: 33: 327-332.
    • (1999) J Am Coll Cardiol , vol.33 , pp. 327-332
    • Wilde, A.A.1    Jongbloed, R.J.2    Doevendans, P.A.3
  • 30
    • 0032189139 scopus 로고    scopus 로고
    • Influence of genotype on the clinical course of the long QT syndrome
    • International long QT syndrome registry research group
    • Zareba W, Moss AJ, Schwartz PJ et al. Influence of genotype on the clinical course of the long QT syndrome. International long QT syndrome registry research group. N Engl J Med 1998: 339: 960-965.
    • (1998) N Engl J Med , vol.339 , pp. 960-965
    • Zareba, W.1    Moss, A.J.2    Schwartz, P.J.3
  • 31
    • 0021893419 scopus 로고
    • The relationship between QTC changes and nutrition during weight loss after gastroplasty
    • Rasmussen LH, Andersen T. The relationship between QTC changes and nutrition during weight loss after gastroplasty. Acta Med Scand 1985: 217: 271-275.
    • (1985) Acta Med Scand , vol.217 , pp. 271-275
    • Rasmussen, L.H.1    Andersen, T.2
  • 32
    • 0027786693 scopus 로고
    • QTC measurements: A case-control study on serum electrolytes
    • Vervaet P, Amery W. QTC measurements: a case-control study on serum electrolytes. Acta Cardiol 1993: 48: 565-578.
    • (1993) Acta Cardiol , vol.48 , pp. 565-578
    • Vervaet, P.1    Amery, W.2
  • 33
    • 0342591665 scopus 로고    scopus 로고
    • Mutational analysis of familial long QT syndrome: Implication of correlation between mutated gene and response to beta-adrenergic blocking agent
    • Tanaka T, Itoh T, Nagai R, Yazaki Y, Nakamura Y. Mutational analysis of familial long QT syndrome: implication of correlation between mutated gene and response to beta-adrenergic blocking agent. Am J Hum Genet 1997: 61 (Suppl.): A115.
    • (1997) Am J Hum Genet , vol.61 , Issue.SUPPL.
    • Tanaka, T.1    Itoh, T.2    Nagai, R.3    Yazaki, Y.4    Nakamura, Y.5
  • 34
    • 0029831629 scopus 로고    scopus 로고
    • Genetically defined therapy of inherited long QT syndrome. Correction of abnormal repolarization by potassium
    • Compton SJ, Lux RL, Ramsey MR et al. Genetically defined therapy of inherited long QT syndrome. Correction of abnormal repolarization by potassium. Circulation 1996: 94: 1018-1022.
    • (1996) Circulation , vol.94 , pp. 1018-1022
    • Compton, S.J.1    Lux, R.L.2    Ramsey, M.R.3
  • 35
    • 0029887380 scopus 로고    scopus 로고
    • + - Channel blockade, β-adrenergic stimulation, and rapid pacing in a cellular model mimicking the SCN5A and HERG defects present in the long QT syndrome
    • + - channel blockade, β-adrenergic stimulation, and rapid pacing in a cellular model mimicking the SCN5A and HERG defects present in the Long QT syndrome. Circ Res 1996: 78: 1009-1015.
    • (1996) Circ Res , vol.78 , pp. 1009-1015
    • Priori, S.G.1    Napolitano, C.2    Cantu, F.3    Brown, A.M.4    Schwartz, P.J.5
  • 36
    • 0030819433 scopus 로고    scopus 로고
    • Sodium channel block with mexiletine is effective in reducing dispersion of repolarization and preventing torsade des pointes in LQT2 and LQT3 models of the long QT syndrome
    • Shimizu W, Antzelevitch C. Sodium channel block with mexiletine is effective in reducing dispersion of repolarization and preventing torsade des pointes in LQT2 and LQT3 models of the long QT syndrome. Circulation 1997: 96: 2038-2047.
    • (1997) Circulation , vol.96 , pp. 2038-2047
    • Shimizu, W.1    Antzelevitch, C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.