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1) Shimizu W. The long QT syndrome: Therapeutic implications of a genetic diagnosis. Cardiovasc Res. 2005; 67: 347-56
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2) Vatta M, Ackerman MJ, Ye B, et al. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation. 2006; 114: 2104-12
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3) Medeiros-Domingo A, Kaku T, Tester DJ, et al. SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation. 2007; 116: 134-42
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4) Chen L, Marquardt ML, Tester DJ, et al. Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Proc Natl Acad Sci U S A. 2007; 104: 20990-5
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5) Ueda K, Valdivia C, Medeiros-Domingo A, et al. Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc Natl Acad Sci U S A. 2008; 105: 9355-60
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6) Wu G, Ai T, Kim JJ, et al. Alpha-1-Syntrophin Mutation and the Long QT Syndrome: a disease of sodium channel disruption. Circ Arrhythm Electrophysiol. 2008; 1: 193-201
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7) Schwartz PJ, Moss AJ, Vincent GM, et al. Diagnostic criteria for the long QT syndrome: An update. Circulation. 1993; 88: 782-4
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8) Priori S G, Schwartz PJ, Napolitano C, et al. A recessive variant of the Romano-Ward long-QT syndrome?. Circulation. 1998; 97: 2420-5
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9) Schwartz PJ, Priori SG, Spazzolini C, et al. Genotype-phenotype correlation in the long-QT syndrome: Gene-specific triggers for life-threatening arrhythmias. Circulation. 2001; 103: 89-95
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10) Khositseth A, Tester DJ, Will ML, et al. Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome. Heart Rhythm. 2004; 1: 60-4
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11) Locati E H, Zareba W, Moss AJ, et al. Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: Findings from the international LQTS registry. Circulation. 1998; 97: 2237-44
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12) 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; 339: 960-5
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13) Shimizu W, Noda T, Takaki H, et al. Epinephrine unmasks latent mutation carriers with LQT1 form of congenital long QT syndrome. J Am Coll Cardiol. 2003; 41: 633-42
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14) Shimizu W, Antzelevitch C. Cellular basis for the electrocardiographic features of the LQT1 form of the long QT syndrome. Effects of β adrenergic agonists, antagonists and sodium channel blockers on transmural dispersion of repolarization and torsade de pointes. Circulation. 1998; 98: 2314-22
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15) 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: 1018-22
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16) Tan HL, Bardia A, Shimizu W, et al. Genotype-specific onset of arrhythmias in congenital long QT syndrome: Possible therapy implications. Circulation. 2006; 114: 2096-103
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17) Wang D, Crotti L, Shimizu W, et al. Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel mutation. Circ Arrhythm Electrophysiol. 2008. In press
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18) 日本循環器学会, 日本心臓病学会, 日本心電学会, 日本不整脈学会. QT延長症候群(先天性・二次性)とBrugada症候群の診療に関するガイドライン(2007年度版). Circ J. 2007; 71 Suppl VI: 1205-53
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19) Shimizu W, Horie M, Ohno S, et al. Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in LQT1 form of congenital long QT syndrome - Multi-center study in Japan -. J Am Coll Cardiol. 2004; 44: 117-25
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20) Moss AJ, Shimizu W, Wilde AAM, et al. Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 2007; 115: 2481-9
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21) Moss AJ, Zareba W, Kaufman ES, et al. Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation. 2002; 105: 794-9
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22) Nagaoka I, Shimizu W, Itoh H, et al. Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008; 72: 694-9
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23) Brink PA, Crotti L, Corfield V, et al. Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. Circulation. 2005; 112: 2602-10
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24) Crotti L, Spazzolini C, Schwartz PJ, et al. The common long QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: Toward a mutation-specific risk stratification. Circulation. 2007; 116: 2366-75
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25) Makita N, Behr E, Shimizu W, et al. The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. J Clin Invest. 2008; 118: 2219-29
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