메뉴 건너뛰기




Volumn 18, Issue 5, 2013, Pages 471-478

Novel mutation in the KCNJ2 Gene is associated with a malignant arrhythmic phenotype of andersen-tawil syndrome

Author keywords

Andersen Tawil syndrome; bidirectional ventricular tachycardia; KCNJ2; LQT7; periodic paralysis; polymorphic ventricular tachycardia

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; POTASSIUM;

EID: 84884504354     PISSN: 1082720X     EISSN: 1542474X     Source Type: Journal    
DOI: 10.1111/anec.12074     Document Type: Article
Times cited : (12)

References (22)
  • 1
    • 33846415827 scopus 로고    scopus 로고
    • Guidelines for the Diagnosis and Management of Familial Long QT Syndrome
    • Skinner J,. Guidelines for the Diagnosis and Management of Familial Long QT Syndrome. Heart, Lung and Circulation 2007; 16: 22-24.
    • (2007) Heart, Lung and Circulation , vol.16 , pp. 22-24
    • Skinner, J.1
  • 2
    • 84988011966 scopus 로고    scopus 로고
    • Andersen-Tawil syndrome
    • www.genetests.org
    • Tawil R, Shannon,. 2007. Andersen-Tawil syndrome. Gene Reviews. www.genetests.org
    • (2007) Gene Reviews
    • Tawil, R.1    Shannon2
  • 3
    • 33947530651 scopus 로고    scopus 로고
    • Management and treatment of Andersen-Tawil Syndrome
    • Sansone V, Tawil R,. Management and treatment of Andersen-Tawil Syndrome. Neurotherapeutics 2007; 4: 233-237.
    • (2007) Neurotherapeutics , vol.4 , pp. 233-237
    • Sansone, V.1    Tawil, R.2
  • 4
    • 0037851905 scopus 로고    scopus 로고
    • Long QT syndrome
    • Moss AJ,. Long QT syndrome. JAMA 2003; 289: 2041-2044.
    • (2003) JAMA , vol.289 , pp. 2041-2044
    • Moss, A.J.1
  • 5
    • 38049146378 scopus 로고    scopus 로고
    • Clinical Practice. Long QT-syndrome
    • Roden, DM,. Clinical Practice. Long QT-syndrome. N Eng J Med 2008; 358: 169-176.
    • (2008) N Eng J Med , vol.358 , pp. 169-176
    • Roden, D.M.1
  • 6
    • 0035830365 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in the long qt syndrome: Gene-specific triggers for life-threatening arrhythmias
    • et al
    • 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.
    • (2001) Circulation , vol.103 , pp. 89-95
    • Schwartz, P.J.1    Priori, S.G.2    Spazzolini, C.3
  • 7
    • 44049105493 scopus 로고    scopus 로고
    • Risk factors for aborted cardiac arrest and sudden cardiac death in children with congenital long QT syndrome
    • et al
    • Goldenberg I, Moss AJ, Peterson DR, et al. Risk factors for aborted cardiac arrest and sudden cardiac death in children with congenital long QT syndrome. Circulation 2008; 117: 2184-2191.
    • (2008) Circulation , vol.117 , pp. 2184-2191
    • Goldenberg, I.1    Moss, A.J.2    Peterson, D.R.3
  • 8
    • 0036324229 scopus 로고    scopus 로고
    • Functional and clinical characterization of kcnj2 mutations associated with LQT7 (Andersen syndrome)
    • et al
    • Tristani-Firouzi M, Jensen JL, Donaldson MR, et al. Functional and clinical characterization of kcnj2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest 2002; 110 (3): 381-388.
    • (2002) J Clin Invest , vol.110 , Issue.3 , pp. 381-388
    • Tristani-Firouzi, M.1    Jensen, J.L.2    Donaldson, M.R.3
  • 9
    • 70449359365 scopus 로고    scopus 로고
    • Genetic Testing for Long-QT Syndrome: Distinguishing Pathogenic Mutations from Benign Variants
    • Kapa S, Ackerman MJ,. Genetic Testing for Long-QT Syndrome: Distinguishing Pathogenic Mutations From Benign Variants. Circulation 2009; 120: 1752-1760.
    • (2009) Circulation , vol.120 , pp. 1752-1760
    • Kapa, S.1    Ackerman, M.J.2
  • 10
    • 20344388309 scopus 로고    scopus 로고
    • Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: Characteristic T-U-wave pattern predict the KCNJ2 genotype
    • et al
    • Zhang D, Benson DW, Tristani-Firouzi, et al. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: Characteristic T-U-wave pattern predict the KCNJ2 genotype. Circulation 2005; 111: 2720-2726.
    • (2005) Circulation , vol.111 , pp. 2720-2726
    • Zhang, D.1    Benson, D.W.2    Tristani-Firouzi3
  • 11
    • 32444450201 scopus 로고    scopus 로고
    • Andersen-Tawil Syndrome: Prospective cohort analysis and expansion of the phenotype
    • et al
    • Yoon G, Oberoi S, Tristani-Firouzi M, et al. Andersen-Tawil Syndrome: Prospective cohort analysis and expansion of the phenotype. Am J Med Genet 2006; 140A: 312-321.
    • (2006) Am J Med Genet , vol.140 A , pp. 312-321
    • Yoon, G.1    Oberoi, S.2    Tristani-Firouzi, M.3
  • 12
    • 0036724842 scopus 로고    scopus 로고
    • KCNJ2 mutation results in Andersen-Tawil Syndrome with sex-specific and skeletal muscle phenotypes
    • et al
    • Andelfinger G, Tapper AR, Welch RC, et al. KCNJ2 mutation results in Andersen-Tawil Syndrome with sex-specific and skeletal muscle phenotypes. Am J Hum Genet 2002; 71: 663-668.
    • (2002) Am J Hum Genet , vol.71 , pp. 663-668
    • Andelfinger, G.1    Tapper, A.R.2    Welch, R.C.3
  • 13
    • 33144477356 scopus 로고    scopus 로고
    • Cellular basis for electrocardiographic and arrhythmic manifestations of Andersen-Tawil syndrome (LQT7)
    • Tsuboi M, Antzelevitch C,. Cellular basis for electrocardiographic and arrhythmic manifestations of Andersen-Tawil syndrome (LQT7). Heart Rhythm 2006; 3: 1346-1350.
    • (2006) Heart Rhythm , vol.3 , pp. 1346-1350
    • Tsuboi, M.1    Antzelevitch, C.2
  • 14
    • 3042730546 scopus 로고    scopus 로고
    • Polymorphic ventricular tachycardia and KCNJ2 mutations
    • 2nd, et al
    • Chun TU, Epstein MR, Dick M, 2nd, et al. Polymorphic ventricular tachycardia and KCNJ2 mutations. Heart Rhythm 2004; 1: 235-241.
    • (2004) Heart Rhythm , vol.1 , pp. 235-241
    • Chun, T.U.1    Epstein, M.R.2    Dick, M.3
  • 15
    • 84864589879 scopus 로고    scopus 로고
    • Phenotype variability in patients carrying KCNJ2 mutations
    • et al
    • Kimura H, Zhou J, Kawamura M, et al. Phenotype variability in patients carrying KCNJ2 mutations. Circulation: Cardiovascular Genet 2012; 5: 344-353.
    • (2012) Circulation: Cardiovascular Genet , vol.5 , pp. 344-353
    • Kimura, H.1    Zhou, J.2    Kawamura, M.3
  • 16
    • 0015124692 scopus 로고
    • Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?
    • Andersen ED, Krasilnikoff PA, Overvad H,. Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome? Acta Paediatrica Scand 1971; 60 (5): 559-564.
    • (1971) Acta Paediatrica Scand , vol.60 , Issue.5 , pp. 559-564
    • Andersen, E.D.1    Krasilnikoff, P.A.2    Overvad, H.3
  • 17
    • 0028298042 scopus 로고
    • Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
    • et al
    • Tawil R, Ptacek LJ, Pavlakis SC, et al. Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol 1994; 35 (3): 326-330.
    • (1994) Ann Neurol , vol.35 , Issue.3 , pp. 326-330
    • Tawil, R.1    Ptacek, L.J.2    Pavlakis, S.C.3
  • 18
    • 17144362139 scopus 로고    scopus 로고
    • Cathecholaminergic polymorphic ventricular tachycardia
    • Francis J, Sankar V, Nair VK, Priori SG,. Cathecholaminergic polymorphic ventricular tachycardia. Heart Rhythm 2005; 2: 550-554.
    • (2005) Heart Rhythm , vol.2 , pp. 550-554
    • Francis, J.1    Sankar, V.2    Nair, V.K.3    Priori, S.G.4
  • 19
    • 0015612323 scopus 로고
    • Digitalis intoxication in patients with atrial fibrillation
    • Kastor J,. Digitalis intoxication in patients with atrial fibrillation. Circulation 1973; 47: 888-896.
    • (1973) Circulation , vol.47 , pp. 888-896
    • Kastor, J.1
  • 20
    • 0016937690 scopus 로고
    • Bidirectional ventricular tachycardia in familial hypokalaemia periodic paralysis
    • Stubbs WA,. Bidirectional ventricular tachycardia in familial hypokalaemia periodic paralysis. Proc R Soc Med 1976; 69: 223-224.
    • (1976) Proc R Soc Med , vol.69 , pp. 223-224
    • Stubbs, W.A.1
  • 21
    • 33749053593 scopus 로고    scopus 로고
    • Recommendations for participation in leisure-time physical activity and competitive sports of patients with arrhythmias and potentially arrhythmogenic conditions. Part II: Ventricular arrhythmias, channelopathies and implantable defibrillators
    • Heidbuchela H,. Recommendations for participation in leisure-time physical activity and competitive sports of patients with arrhythmias and potentially arrhythmogenic conditions. Part II: Ventricular arrhythmias, channelopathies and implantable defibrillators. Eur J Cardiovascular Prev Rehabil 2006; 13: 676-686.
    • (2006) Eur J Cardiovascular Prev Rehabil , vol.13 , pp. 676-686
    • Heidbuchela, H.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.