-
3
-
-
75549109609
-
Rare cardiac arrythmias of the pediatric age. II. Syncopal attacks due to paroxysmal ventricular fibrillation
-
[Presentation of 1st Case in Italian Pediatric Literature]
-
Romano C., Gemme G., Pongiglione R. Rare cardiac arrythmias of the pediatric age. II. Syncopal attacks due to paroxysmal ventricular fibrillation. Clin Pediatr 1963, 45:656-683. [Presentation of 1st Case in Italian Pediatric Literature].
-
(1963)
Clin Pediatr
, vol.45
, pp. 656-683
-
-
Romano, C.1
Gemme, G.2
Pongiglione, R.3
-
4
-
-
0000387603
-
New familial cardiac syndrome in children
-
Ward O.C.A. New familial cardiac syndrome in children. J Ir Med Assoc 1964, 54:103-106.
-
(1964)
J Ir Med Assoc
, vol.54
, pp. 103-106
-
-
Ward, O.C.A.1
-
6
-
-
49749174698
-
Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death
-
Jervell A., Lange-Nielsen F. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J 1957, 54:59-68.
-
(1957)
Am Heart J
, vol.54
, pp. 59-68
-
-
Jervell, A.1
Lange-Nielsen, F.2
-
7
-
-
0000878601
-
Genetical aspects of the cardio-auditory syndrome of Jervell and Lange-Nielsen (Congenital deafness and electrocardiographic abnormalities)
-
Fraser G.R., Froggatt P., Murphy T. Genetical aspects of the cardio-auditory syndrome of Jervell and Lange-Nielsen (Congenital deafness and electrocardiographic abnormalities). Ann Hum Genet 1964, 28:133-157.
-
(1964)
Ann Hum Genet
, vol.28
, pp. 133-157
-
-
Fraser, G.R.1
Froggatt, P.2
Murphy, T.3
-
8
-
-
5344223383
-
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
-
Splawski I., Timothy K.W., Sharpe L.M., et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004, 119:19-31.
-
(2004)
Cell
, vol.119
, pp. 19-31
-
-
Splawski, I.1
Timothy, K.W.2
Sharpe, L.M.3
-
9
-
-
84870933622
-
Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes
-
Giudicessi J.R., Ackerman M.J. Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes. Transl Res 2013, 161:1-14.
-
(2013)
Transl Res
, vol.161
, pp. 1-14
-
-
Giudicessi, J.R.1
Ackerman, M.J.2
-
10
-
-
0035975980
-
Sudden cardiac death in the United States, 1989 to 1998
-
Zheng Z.J., Croft J.B., Giles W.H., Mensah G.A. Sudden cardiac death in the United States, 1989 to 1998. Circulation 2001, 104:2158-2163.
-
(2001)
Circulation
, vol.104
, pp. 2158-2163
-
-
Zheng, Z.J.1
Croft, J.B.2
Giles, W.H.3
Mensah, G.A.4
-
11
-
-
78650158253
-
Sudden cardiac death prediction and prevention: report from a National Heart, Lung, and Blood Institute and Heart Rhythm Society Workshop
-
Fishman G.I., Chugh S.S., Dimarco J.P., et al. Sudden cardiac death prediction and prevention: report from a National Heart, Lung, and Blood Institute and Heart Rhythm Society Workshop. Circulation 2010, 122:2335-2348.
-
(2010)
Circulation
, vol.122
, pp. 2335-2348
-
-
Fishman, G.I.1
Chugh, S.S.2
Dimarco, J.P.3
-
12
-
-
25444529765
-
Molecular physiology of cardiac repolarization
-
Nerbonne J.M., Kass R.S. Molecular physiology of cardiac repolarization. Physiol Rev 2005, 85:1205-1253.
-
(2005)
Physiol Rev
, vol.85
, pp. 1205-1253
-
-
Nerbonne, J.M.1
Kass, R.S.2
-
13
-
-
84861481127
-
Potassium-channel mutations and cardiac arrhythmias-diagnosis and therapy
-
Giudicessi J.R., Ackerman M.J. Potassium-channel mutations and cardiac arrhythmias-diagnosis and therapy. Nat Rev Cardiol 2012, 9:319-332.
-
(2012)
Nat Rev Cardiol
, vol.9
, pp. 319-332
-
-
Giudicessi, J.R.1
Ackerman, M.J.2
-
14
-
-
50149112857
-
The QT syndromes: long and short
-
Morita H., Wu J., Zipes D.P. The QT syndromes: long and short. Lancet 2008, 372:750-763.
-
(2008)
Lancet
, vol.372
, pp. 750-763
-
-
Morita, H.1
Wu, J.2
Zipes, D.P.3
-
15
-
-
35349025904
-
Role of spatial dispersion of repolarization in inherited and acquired sudden cardiac death syndromes
-
Antzelevitch C. Role of spatial dispersion of repolarization in inherited and acquired sudden cardiac death syndromes. Am J Physiol Heart Circ Physiol 2007, 293:H2024-H2038.
-
(2007)
Am J Physiol Heart Circ Physiol
, vol.293
-
-
Antzelevitch, C.1
-
16
-
-
9044240040
-
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
-
Wang Q., Curran M.E., Splawski I., et al. Positional cloning of a novel potassium channel gene: KVLQT1 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
-
17
-
-
0028914969
-
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
-
Curran M.E., Splawski I., Timothy K.W., Vincent G.M., Green E.D., Keating M.T. A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell 1995, 80:795-803.
-
(1995)
Cell
, vol.80
, pp. 795-803
-
-
Curran, M.E.1
Splawski, I.2
Timothy, K.W.3
Vincent, G.M.4
Green, E.D.5
Keating, M.T.6
-
18
-
-
0028905566
-
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
-
19
-
-
0034609531
-
Spectrum of mutations in long-QT syndrome genes KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
-
Splawski I., Shen J., Timothy K.W., et al. Spectrum of mutations in long-QT syndrome genes KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000, 102:1178-1185.
-
(2000)
Circulation
, vol.102
, pp. 1178-1185
-
-
Splawski, I.1
Shen, J.2
Timothy, K.W.3
-
20
-
-
17144415220
-
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing
-
Tester D.J., Will M.L., Haglund C.M., Ackerman M.J. Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm 2005, 2:507-517.
-
(2005)
Heart Rhythm
, vol.2
, pp. 507-517
-
-
Tester, D.J.1
Will, M.L.2
Haglund, C.M.3
Ackerman, M.J.4
-
21
-
-
0029854263
-
Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel
-
Sanguinetti M.C., Curran M.E., Zou A., et al. Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. Nature 1996, 384:80-83.
-
(1996)
Nature
, vol.384
, pp. 80-83
-
-
Sanguinetti, M.C.1
Curran, M.E.2
Zou, A.3
-
22
-
-
33748910482
-
Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential
-
Wangemann P. Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential. J Physiol 2006, 576:11-21.
-
(2006)
J Physiol
, vol.576
, pp. 11-21
-
-
Wangemann, P.1
-
23
-
-
0035830365
-
Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias
-
Schwartz P.J., Priori S.G., 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
-
24
-
-
0030918946
-
Molecular basis of the long-QT syndrome associated with deafness
-
Splawski I., Timothy K.W., Vincent G.M., Atkinson D.L., Keating M.T. Molecular basis of the long-QT syndrome associated with deafness. N Engl J Med 1997, 336:1562-1567.
-
(1997)
N Engl J Med
, vol.336
, pp. 1562-1567
-
-
Splawski, I.1
Timothy, K.W.2
Vincent, G.M.3
Atkinson, D.L.4
Keating, M.T.5
-
25
-
-
84878031767
-
Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity
-
Giudicessi J.R., Ackerman M.J. Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. Circ Cardiovasc Genet 2013, 6:193-200.
-
(2013)
Circ Cardiovasc Genet
, vol.6
, pp. 193-200
-
-
Giudicessi, J.R.1
Ackerman, M.J.2
-
26
-
-
0242635451
-
How really rare are rare diseases?: the intriguing case of independent compound mutations in the long QT syndrome
-
Schwartz P.J., Priori S.G., Napolitano C. How really rare are rare diseases?: the intriguing case of independent compound mutations in the long QT syndrome. J Cardiovasc Electrophysiol 2003, 14:1120-1121.
-
(2003)
J Cardiovasc Electrophysiol
, vol.14
, pp. 1120-1121
-
-
Schwartz, P.J.1
Priori, S.G.2
Napolitano, C.3
-
27
-
-
1942534554
-
Compound mutations: a common cause of severe long-QT syndrome
-
Westenskow P., Splawski I., Timothy K.W., Keating M.T., Sanguinetti M.C. Compound mutations: a common cause of severe long-QT syndrome. Circulation 2004, 109:1834-1841.
-
(2004)
Circulation
, vol.109
, pp. 1834-1841
-
-
Westenskow, P.1
Splawski, I.2
Timothy, K.W.3
Keating, M.T.4
Sanguinetti, M.C.5
-
28
-
-
77957254021
-
Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study
-
Itoh H., Shimizu W., Hayashi K., et al. Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm 2010, 7:1411-1418.
-
(2010)
Heart Rhythm
, vol.7
, pp. 1411-1418
-
-
Itoh, H.1
Shimizu, W.2
Hayashi, K.3
-
30
-
-
0029097799
-
Molecular mechanism for an inherited cardiac arrhythmia
-
Bennett P.B., Yazawa K., Makita N., George A.L. Molecular mechanism for an inherited cardiac arrhythmia. Nature 1995, 376:683-685.
-
(1995)
Nature
, vol.376
, pp. 683-685
-
-
Bennett, P.B.1
Yazawa, K.2
Makita, N.3
George, A.L.4
-
31
-
-
67649547603
-
Sodium channel mutations and arrhythmias
-
Ruan Y., Liu N., Priori S.G. Sodium channel mutations and arrhythmias. Nat Rev Cardiol 2009, 6:337-348.
-
(2009)
Nat Rev Cardiol
, vol.6
, pp. 337-348
-
-
Ruan, Y.1
Liu, N.2
Priori, S.G.3
-
32
-
-
0028874658
-
+ channel blockade and to increases in heart rate. Implications for gene-specific therapy
-
+ channel blockade and to increases in heart rate. Implications for gene-specific therapy. Circulation 1995, 92:3381-3386.
-
(1995)
Circulation
, vol.92
, pp. 3381-3386
-
-
Schwartz, P.J.1
Priori, S.G.2
Locati, E.H.3
-
33
-
-
0033826937
-
Gene-specific differences in the circadian variation of ventricular repolarization in the long QT syndrome: a key to sudden death during sleep?
-
Stramba-Badiale M., Priori S.G., Napolitano C., et al. Gene-specific differences in the circadian variation of ventricular repolarization in the long QT syndrome: a key to sudden death during sleep?. Ital Heart J 2000, 1:323-328.
-
(2000)
Ital Heart J
, vol.1
, pp. 323-328
-
-
Stramba-Badiale, M.1
Priori, S.G.2
Napolitano, C.3
-
34
-
-
84862777353
-
Circadian rhythms govern cardiac repolarization and arrhythmogenesis
-
Jeyaraj D., Haldar S.M., Wan X., et al. Circadian rhythms govern cardiac repolarization and arrhythmogenesis. Nature 2012, 483:96-99.
-
(2012)
Nature
, vol.483
, pp. 96-99
-
-
Jeyaraj, D.1
Haldar, S.M.2
Wan, X.3
-
35
-
-
0029952101
-
K(V) LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current
-
Barhanin J., Lesage F., Guillemare E., Fink M., Lazdunski M., Romey G. K(V) LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current. Nature 1996, 384:78-80.
-
(1996)
Nature
, vol.384
, pp. 78-80
-
-
Barhanin, J.1
Lesage, F.2
Guillemare, E.3
Fink, M.4
Lazdunski, M.5
Romey, G.6
-
36
-
-
0007996253
-
+ current by protein kinase C and protein kinase A
-
+ current by protein kinase C and protein kinase A. Circ Res 1998, 83:995-1002.
-
(1998)
Circ Res
, vol.83
, pp. 995-1002
-
-
Lo, C.F.1
Numann, R.2
-
37
-
-
0030723260
-
Mutations in the hminK gene cause long QT syndrome and suppress IKs function
-
Splawski I., Tristani-Firouzi M., Lehmann M.H., Sanguinetti M.C., Keating M.T. Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat Genet 1997, 17:338-340.
-
(1997)
Nat Genet
, vol.17
, pp. 338-340
-
-
Splawski, I.1
Tristani-Firouzi, M.2
Lehmann, M.H.3
Sanguinetti, M.C.4
Keating, M.T.5
-
38
-
-
38049169040
-
Mutation of an A-kinase-anchoring protein causes long-QT syndrome
-
Chen L., Marquardt M.L., Tester D.J., Sampson K.J., Ackerman M.J., Kass R.S. Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Proc Natl Acad Sci U S A 2007, 104:20990-20995.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 20990-20995
-
-
Chen, L.1
Marquardt, M.L.2
Tester, D.J.3
Sampson, K.J.4
Ackerman, M.J.5
Kass, R.S.6
-
39
-
-
0031936234
-
Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome
-
Duggal P., Vesely M.R., Wattanasirichaigoon D., Villafane J., Kaushik V., Beggs A.H. Mutation 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
-
40
-
-
0033574273
-
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia
-
Abbott G.W., Sesti F., Splawski I., et al. MiRP1 forms IKr 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
-
41
-
-
0036554839
-
A comparison of currents carried by HERG, with and without coexpression of MiRP1, and the native rapid delayed rectifier current. Is MiRP1 the missing link?
-
Weerapura M., Nattel S., Chartier D., Caballero R., Hebert T.E. A comparison of currents carried by HERG, with and without coexpression of MiRP1, and the native rapid delayed rectifier current. Is MiRP1 the missing link?. J Physiol 2002, 540:15-27.
-
(2002)
J Physiol
, vol.540
, pp. 15-27
-
-
Weerapura, M.1
Nattel, S.2
Chartier, D.3
Caballero, R.4
Hebert, T.E.5
-
42
-
-
0042025143
-
Canine ventricular KCNE2 expression resides predominantly in Purkinje fibers
-
Pourrier M., Zicha S., Ehrlich J., Han W., Nattel S. Canine ventricular KCNE2 expression resides predominantly in Purkinje fibers. Circ Res 2003, 93:189-191.
-
(2003)
Circ Res
, vol.93
, pp. 189-191
-
-
Pourrier, M.1
Zicha, S.2
Ehrlich, J.3
Han, W.4
Nattel, S.5
-
43
-
-
6344221484
-
KCNE2 protein is expressed in ventricles of different species, and changes in its expression contribute to electrical remodeling in diseased hearts
-
Jiang M., Zhang M., Tang D.G., et al. KCNE2 protein is expressed in ventricles of different species, and changes in its expression contribute to electrical remodeling in diseased hearts. Circulation 2004, 109:1783-1788.
-
(2004)
Circulation
, vol.109
, pp. 1783-1788
-
-
Jiang, M.1
Zhang, M.2
Tang, D.G.3
-
45
-
-
33751016041
-
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome
-
Vatta M., Ackerman M.J., Ye B., et al. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 2006, 114:2104-2112.
-
(2006)
Circulation
, vol.114
, pp. 2104-2112
-
-
Vatta, M.1
Ackerman, M.J.2
Ye, B.3
-
46
-
-
34447307435
-
SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome
-
Medeiros-Domingo A., Kaku T., Tester D.J., et al. SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation 2007, 116:134-142.
-
(2007)
Circulation
, vol.116
, pp. 134-142
-
-
Medeiros-Domingo, A.1
Kaku, T.2
Tester, D.J.3
-
47
-
-
48249148221
-
Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex
-
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, 105:9355-9360.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 9355-9360
-
-
Ueda, K.1
Valdivia, C.2
Medeiros-Domingo, A.3
-
48
-
-
77953119778
-
Identification of a Kir3.4 mutation in congenital long QT syndrome
-
Yang Y., Liang B., Liu J., et al. Identification of a Kir3.4 mutation in congenital long QT syndrome. Am J Hum Genet 2010 Jun 11, 86:872-880.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 872-880
-
-
Yang, Y.1
Liang, B.2
Liu, J.3
-
49
-
-
42549111634
-
G protein-activated (GIRK) current in rat ventricular myocytes is masked by constitutive inward rectifier current (I(K1))
-
Beckmann C., Rinne A., Littwitz C., et al. G protein-activated (GIRK) current in rat ventricular myocytes is masked by constitutive inward rectifier current (I(K1)). Cell Physiol Biochem 2008, 21:259-268.
-
(2008)
Cell Physiol Biochem
, vol.21
, pp. 259-268
-
-
Beckmann, C.1
Rinne, A.2
Littwitz, C.3
-
50
-
-
0028819671
-
Mapping of a gene for long QT syndrome to chromosome 4q25-27
-
Schott J.J., 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
-
51
-
-
0242464931
-
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death
-
Mohler P.J., Schott J.J., Gramolini A.O., et al. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 2003, 421:634-639.
-
(2003)
Nature
, vol.421
, pp. 634-639
-
-
Mohler, P.J.1
Schott, J.J.2
Gramolini, A.O.3
-
52
-
-
2942695712
-
A cardiac arrhythmia syndrome caused by loss of ankyrin-B function
-
Mohler P.J., Splawski I., Napolitano C., et al. A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc Natl Acad Sci U S A 2004, 101:9137-9142.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 9137-9142
-
-
Mohler, P.J.1
Splawski, I.2
Napolitano, C.3
-
53
-
-
33846562077
-
Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes
-
Mohler P.J., Le Scouarnec S., Denjoy I., et al. Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes. Circulation 2007, 115:432-441.
-
(2007)
Circulation
, vol.115
, pp. 432-441
-
-
Mohler, P.J.1
Le Scouarnec, S.2
Denjoy, I.3
-
54
-
-
0015124692
-
Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?
-
Andersen E.D., Krasilnikoff P.A., Overvad H. Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?. Acta Paediatr Scand 1971, 60:559-564.
-
(1971)
Acta Paediatr Scand
, vol.60
, pp. 559-564
-
-
Andersen, E.D.1
Krasilnikoff, P.A.2
Overvad, H.3
-
55
-
-
0028298042
-
Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
-
Tawil R., Ptacek L.J., Pavlakis S.G., et al. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol 1994, 35:326-330.
-
(1994)
Ann Neurol
, vol.35
, pp. 326-330
-
-
Tawil, R.1
Ptacek, L.J.2
Pavlakis, S.G.3
-
56
-
-
0035907032
-
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
-
Plaster N.M., Tawil R., Tristani-Firouzi M., et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001, 105:511-519.
-
(2001)
Cell
, vol.105
, pp. 511-519
-
-
Plaster, N.M.1
Tawil, R.2
Tristani-Firouzi, M.3
-
57
-
-
0036324229
-
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)
-
Tristani-Firouzi M., Jensen J.L., Donaldson M.R., et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest 2002, 110:381-388.
-
(2002)
J Clin Invest
, vol.110
, pp. 381-388
-
-
Tristani-Firouzi, M.1
Jensen, J.L.2
Donaldson, M.R.3
-
58
-
-
20344388309
-
Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype
-
Zhang L., Benson D.W., Tristani-Firouzi M., et al. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation 2005, 111:2720-2726.
-
(2005)
Circulation
, vol.111
, pp. 2720-2726
-
-
Zhang, L.1
Benson, D.W.2
Tristani-Firouzi, M.3
-
59
-
-
41149167595
-
The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels
-
Barrett C.F., Tsien R.W. The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels. Proc Natl Acad Sci U S A 2008, 105:2157-2162.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 2157-2162
-
-
Barrett, C.F.1
Tsien, R.W.2
-
60
-
-
20444426877
-
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations
-
[discussion 6-8]
-
Splawski I., Timothy K.W., Decher N., et al. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A 2005, 102:8089-8096. [discussion 6-8].
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 8089-8096
-
-
Splawski, I.1
Timothy, K.W.2
Decher, N.3
-
61
-
-
80053103559
-
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome
-
Etheridge S.P., Bowles N.E., Arrington C.B., et al. Somatic mosaicism contributes to phenotypic variation in Timothy syndrome. Am J Med Genet A 2011, 155A:2578-2583.
-
(2011)
Am J Med Genet A
, vol.155 A
, pp. 2578-2583
-
-
Etheridge, S.P.1
Bowles, N.E.2
Arrington, C.B.3
-
62
-
-
84878714830
-
Maternal mosaicsim confounds the neonatal diagnosis of type 1 Timothy syndrome
-
Epub 2013 May 20
-
Dufendach K.A., Giudicessi J.R., Boczek N.J., Ackerman MJ. Maternal mosaicsim confounds the neonatal diagnosis of type 1 Timothy syndrome. Pediatrics 2013 Jun, 131:e1991-e1995. Epub 2013 May 20. 10.1542/peds.2012-2941.
-
(2013)
Pediatrics
, vol.131
-
-
Dufendach, K.A.1
Giudicessi, J.R.2
Boczek, N.J.3
Ackerman, M.J.4
-
63
-
-
84874664698
-
Calmodulin mutations associated with recurrent cardiac arrest in infants
-
Epub 2013 Feb 6
-
Crotti L., Johnson C.N., Graf E., et al. Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation 2013 Mar 5, 127:1009-1017. Epub 2013 Feb 6. 10.1161/CIRCULATIONAHA.112.001216.
-
(2013)
Circulation
, vol.127
, pp. 1009-1017
-
-
Crotti, L.1
Johnson, C.N.2
Graf, E.3
-
64
-
-
78651455611
-
KCNE1 D85N polymorphism-a sex-specific modifier in type 1 long QT syndrome?
-
Lahtinen A.M., Marjamaa A., Swan H., Kontula K. KCNE1 D85N polymorphism-a sex-specific modifier in type 1 long QT syndrome?. BMC Med Genet 2011, 12:11.
-
(2011)
BMC Med Genet
, vol.12
, pp. 11
-
-
Lahtinen, A.M.1
Marjamaa, A.2
Swan, H.3
Kontula, K.4
-
65
-
-
24644515300
-
KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome
-
Crotti L., Lundquist A.L., Insolia R., et al. KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome. Circulation 2005, 112:1251-1258.
-
(2005)
Circulation
, vol.112
, pp. 1251-1258
-
-
Crotti, L.1
Lundquist, A.L.2
Insolia, R.3
-
66
-
-
0242330187
-
A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels
-
Makielski J.C., Ye B., Valdivia C.R., et al. A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels. Circ Res 2003, 93:821-828.
-
(2003)
Circ Res
, vol.93
, pp. 821-828
-
-
Makielski, J.C.1
Ye, B.2
Valdivia, C.R.3
-
67
-
-
0037314358
-
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation
-
Viswanathan P.C., Benson D.W., Balser J.R. A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest 2003, 111:341-346.
-
(2003)
J Clin Invest
, vol.111
, pp. 341-346
-
-
Viswanathan, P.C.1
Benson, D.W.2
Balser, J.R.3
-
68
-
-
84858417162
-
Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner
-
Amin A.S., Giudicessi J.R., Tijsen A.J., et al. Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner. Eur Heart J 2012, 33:714-723.
-
(2012)
Eur Heart J
, vol.33
, pp. 714-723
-
-
Amin, A.S.1
Giudicessi, J.R.2
Tijsen, A.J.3
-
69
-
-
84862863899
-
Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation
-
Park J.K., Martin L.J., Zhang X., Jegga A.G., Benson D.W. Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation. Heart Rhythm 2012, 9:1090-1096.
-
(2012)
Heart Rhythm
, vol.9
, pp. 1090-1096
-
-
Park, J.K.1
Martin, L.J.2
Zhang, X.3
Jegga, A.G.4
Benson, D.W.5
-
70
-
-
0033547241
-
Two functionally distinct alpha2-adrenergic receptors regulate sympathetic neurotransmission
-
Hein L., Altman J.D., Kobilka B.K. Two functionally distinct alpha2-adrenergic receptors regulate sympathetic neurotransmission. Nature 1999, 402:181-184.
-
(1999)
Nature
, vol.402
, pp. 181-184
-
-
Hein, L.1
Altman, J.D.2
Kobilka, B.K.3
-
71
-
-
0033617342
-
A gain-of-function polymorphism in a G-protein coupling domain of the human beta1-adrenergic receptor
-
Mason D.A., Moore J.D., Green S.A., Liggett S.B. A gain-of-function polymorphism in a G-protein coupling domain of the human beta1-adrenergic receptor. J Biol Chem 1999, 274:12670-12674.
-
(1999)
J Biol Chem
, vol.274
, pp. 12670-12674
-
-
Mason, D.A.1
Moore, J.D.2
Green, S.A.3
Liggett, S.B.4
-
72
-
-
34247133966
-
Beta1-adrenergic receptor polymorphisms, QTc interval and occurrence of symptoms in type 1 of long QT syndrome
-
Paavonen K.J., Swan H., Piippo K., et al. Beta1-adrenergic receptor polymorphisms, QTc interval and occurrence of symptoms in type 1 of long QT syndrome. Int J Cardiol 2007, 118:197-202.
-
(2007)
Int J Cardiol
, vol.118
, pp. 197-202
-
-
Paavonen, K.J.1
Swan, H.2
Piippo, K.3
-
73
-
-
38649121254
-
Neural control of heart rate is an arrhythmia risk modifier in long QT syndrome
-
Schwartz P.J., Vanoli E., Crotti L., et al. Neural control of heart rate is an arrhythmia risk modifier in long QT syndrome. J Am Coll Cardiol 2008, 51:920-929.
-
(2008)
J Am Coll Cardiol
, vol.51
, pp. 920-929
-
-
Schwartz, P.J.1
Vanoli, E.2
Crotti, L.3
-
74
-
-
70350540922
-
NOS1AP is a genetic modifier of the long-QT syndrome
-
Crotti L., Monti M.C., Insolia R., et al. NOS1AP is a genetic modifier of the long-QT syndrome. Circulation 2009, 120:1657-1663.
-
(2009)
Circulation
, vol.120
, pp. 1657-1663
-
-
Crotti, L.1
Monti, M.C.2
Insolia, R.3
-
75
-
-
77953144675
-
Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome
-
Tomas M., Napolitano C., De Giuli L., et al. Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome. J Am Coll Cardiol 2010, 55:2745-2752.
-
(2010)
J Am Coll Cardiol
, vol.55
, pp. 2745-2752
-
-
Tomas, M.1
Napolitano, C.2
De Giuli, L.3
-
76
-
-
84864144507
-
High prevalence of genetic variants previously associated with LQT syndrome in new exome data
-
Epub 2012 Feb 29
-
Refsgaard L., Holst A.G., Sadjadieh G., Haunso S., Nielsen J.B., Olesen M.S. High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet 2012 Aug, 20:905-908. Epub 2012 Feb 29. 10.1038/ejhg.2012.23.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 905-908
-
-
Refsgaard, L.1
Holst, A.G.2
Sadjadieh, G.3
Haunso, S.4
Nielsen, J.B.5
Olesen, M.S.6
-
77
-
-
0033514263
-
Low penetrance in the long-QT syndrome: clinical impact
-
Priori S.G., Napolitano C., Schwartz P.J. 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
-
78
-
-
32644436410
-
Effect of clinical phenotype on yield of long QT syndrome genetic testing
-
Tester D.J., Will M.L., Haglund C.M., Ackerman M.J. Effect of clinical phenotype on yield of long QT syndrome genetic testing. J Am Coll Cardiol 2006, 47:764-768.
-
(2006)
J Am Coll Cardiol
, vol.47
, pp. 764-768
-
-
Tester, D.J.1
Will, M.L.2
Haglund, C.M.3
Ackerman, M.J.4
-
79
-
-
0028861892
-
ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome
-
Moss A.J., 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.
-
(1995)
Circulation
, vol.92
, pp. 2929-2934
-
-
Moss, A.J.1
Zareba, W.2
Benhorin, J.3
-
80
-
-
0034610404
-
Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes
-
Zhang L., Timothy K.W., Vincent G.M., et al. Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. Circulation 2000, 102:2849-2855.
-
(2000)
Circulation
, vol.102
, pp. 2849-2855
-
-
Zhang, L.1
Timothy, K.W.2
Vincent, G.M.3
-
81
-
-
0016437025
-
Electrical alternation of the T-wave: clinical and experimental evidence of its relationship with the sympathetic nervous system and with the long Q-T syndrome
-
Schwartz P.J., Malliani A. Electrical alternation of the T-wave: clinical and experimental evidence of its relationship with the sympathetic nervous system and with the long Q-T syndrome. Am Heart J 1975, 89:45-50.
-
(1975)
Am Heart J
, vol.89
, pp. 45-50
-
-
Schwartz, P.J.1
Malliani, A.2
-
82
-
-
34249108865
-
Diagnostic miscues in congenital long-QT syndrome
-
Taggart N.W., Haglund C.M., Tester D.J., Ackerman M.J. Diagnostic miscues in congenital long-QT syndrome. Circulation 2007, 115:2613-2620.
-
(2007)
Circulation
, vol.115
, pp. 2613-2620
-
-
Taggart, N.W.1
Haglund, C.M.2
Tester, D.J.3
Ackerman, M.J.4
-
83
-
-
0033207008
-
Positive head-up tilt table test in patients with the long QT syndrome
-
Hermosillo A.G., Falcon J.C., Marquez M.F., Arteaga D., Cardenas M. Positive head-up tilt table test in patients with the long QT syndrome. Europace 1999, 1:213-217.
-
(1999)
Europace
, vol.1
, pp. 213-217
-
-
Hermosillo, A.G.1
Falcon, J.C.2
Marquez, M.F.3
Arteaga, D.4
Cardenas, M.5
-
84
-
-
67650921920
-
Value of history-taking in syncope patients: in whom to suspect long QT syndrome?
-
Colman N., Bakker A., Linzer M., Reitsma J.B., Wieling W., Wilde A.A. Value of history-taking in syncope patients: in whom to suspect long QT syndrome?. Europace 2009, 11:937-943.
-
(2009)
Europace
, vol.11
, pp. 937-943
-
-
Colman, N.1
Bakker, A.2
Linzer, M.3
Reitsma, J.B.4
Wieling, W.5
Wilde, A.A.6
-
85
-
-
64549103023
-
AHA/ACCF/HRS recommendations for the standardization and interpretation of the electrocardiogram: part IV: the ST segment, T and U waves, and the QT interval: a scientific statement from the American Heart Association Electrocardiography and Arrhythmias Committee, Council on Clinical Cardiology; the American College of Cardiology Foundation; and the Heart Rhythm Society: endorsed by the Internatio
-
Rautaharju P.M., Surawicz B., Gettes L.S., et al. AHA/ACCF/HRS recommendations for the standardization and interpretation of the electrocardiogram: part IV: the ST segment, T and U waves, and the QT interval: a scientific statement from the American Heart Association Electrocardiography and Arrhythmias Committee, Council on Clinical Cardiology; the American College of Cardiology Foundation; and the Heart Rhythm Society: endorsed by the International Society for Computerized Electrocardiology. Circulation 2009, 119:e241-e250.
-
(2009)
Circulation
, vol.119
-
-
Rautaharju, P.M.1
Surawicz, B.2
Gettes, L.S.3
-
86
-
-
0027267765
-
Diagnostic criteria for the long QT syndrome. An update
-
Schwartz P.J., Moss A.J., Vincent G.M., Crampton R.S. Diagnostic criteria for the long QT syndrome. An update. Circulation 1993, 88:782-784.
-
(1993)
Circulation
, vol.88
, pp. 782-784
-
-
Schwartz, P.J.1
Moss, A.J.2
Vincent, G.M.3
Crampton, R.S.4
-
87
-
-
81355132248
-
QTc behavior during exercise and genetic testing for the long-QT syndrome
-
Schwartz P.J., Crotti L. QTc behavior during exercise and genetic testing for the long-QT syndrome. Circulation 2011, 124:2181-2184.
-
(2011)
Circulation
, vol.124
, pp. 2181-2184
-
-
Schwartz, P.J.1
Crotti, L.2
-
88
-
-
0038415858
-
Risk stratification in the long-QT syndrome
-
Priori S.G., Schwartz P.J., Napolitano C., et al. Risk stratification in the long-QT syndrome. N Engl J Med 2003, 348:1866-1874.
-
(2003)
N Engl J Med
, vol.348
, pp. 1866-1874
-
-
Priori, S.G.1
Schwartz, P.J.2
Napolitano, C.3
-
89
-
-
0036237833
-
Epinephrine-induced QT interval prolongation: a gene-specific paradoxical response in congenital long QT syndrome
-
Ackerman M.J., Khositseth A., Tester D.J., Hejlik J.B., Shen W.K., Porter C.B. Epinephrine-induced QT interval prolongation: a gene-specific paradoxical response in congenital long QT syndrome. Mayo Clin Proc 2002, 77:413-421.
-
(2002)
Mayo Clin Proc
, vol.77
, pp. 413-421
-
-
Ackerman, M.J.1
Khositseth, A.2
Tester, D.J.3
Hejlik, J.B.4
Shen, W.K.5
Porter, C.B.6
-
90
-
-
77951918931
-
Utility of treadmill testing in identification and genotype prediction in long-QT syndrome
-
Wong J.A., Gula L.J., Klein G.J., Yee R., Skanes A.C., Krahn A.D. Utility of treadmill testing in identification and genotype prediction in long-QT syndrome. Circ Arrhythm Electrophysiol 2010, 3:120-125.
-
(2010)
Circ Arrhythm Electrophysiol
, vol.3
, pp. 120-125
-
-
Wong, J.A.1
Gula, L.J.2
Klein, G.J.3
Yee, R.4
Skanes, A.C.5
Krahn, A.D.6
-
91
-
-
70449359365
-
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants
-
Kapa S., Tester D.J., Salisbury B.A., et al. 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
Tester, D.J.2
Salisbury, B.A.3
-
92
-
-
79960867817
-
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)
-
Ackerman M.J., Priori S.G., Willems S., et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Heart Rhythm 2011, 8:1308-1339.
-
(2011)
Heart Rhythm
, vol.8
, pp. 1308-1339
-
-
Ackerman, M.J.1
Priori, S.G.2
Willems, S.3
-
93
-
-
84871630327
-
Genetic testing in heritable cardiac arrhythmia syndromes: differentiating pathogenic mutations from background genetic noise
-
Giudicessi J.R., Ackerman M.J. Genetic testing in heritable cardiac arrhythmia syndromes: differentiating pathogenic mutations from background genetic noise. Curr Opin Cardiol 2013, 28:63-71.
-
(2013)
Curr Opin Cardiol
, vol.28
, pp. 63-71
-
-
Giudicessi, J.R.1
Ackerman, M.J.2
-
94
-
-
84868615791
-
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome
-
Giudicessi J.R., Kapplinger J.D., Tester D.J., et al. Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet 2012, 5:519-528.
-
(2012)
Circ Cardiovasc Genet
, vol.5
, pp. 519-528
-
-
Giudicessi, J.R.1
Kapplinger, J.D.2
Tester, D.J.3
-
95
-
-
33644853794
-
The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome
-
Schwartz P.J., Spazzolini C., Crotti L., et al. The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. Circulation 2006, 113:783-790.
-
(2006)
Circulation
, vol.113
, pp. 783-790
-
-
Schwartz, P.J.1
Spazzolini, C.2
Crotti, L.3
-
96
-
-
33750077549
-
Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome
-
Goldenberg I., Moss A.J., Zareba W., et al. Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome. J Cardiovasc Electrophysiol 2006, 17:1161-1168.
-
(2006)
J Cardiovasc Electrophysiol
, vol.17
, pp. 1161-1168
-
-
Goldenberg, I.1
Moss, A.J.2
Zareba, W.3
-
98
-
-
84875295625
-
Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations
-
Mullally J., Goldenberg I., Moss A.J., et al. Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm 2013, 10:378-382.
-
(2013)
Heart Rhythm
, vol.10
, pp. 378-382
-
-
Mullally, J.1
Goldenberg, I.2
Moss, A.J.3
-
100
-
-
0022412903
-
Idiopathic long QT syndrome: progress and questions
-
Schwartz P.J. Idiopathic long QT syndrome: progress and questions. Am Heart J 1985, 109:399-411.
-
(1985)
Am Heart J
, vol.109
, pp. 399-411
-
-
Schwartz, P.J.1
-
101
-
-
17044446589
-
Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome
-
Moss A.J., Zareba W., Hall W.J., et al. Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation 2000, 101:616-623.
-
(2000)
Circulation
, vol.101
, pp. 616-623
-
-
Moss, A.J.1
Zareba, W.2
Hall, W.J.3
-
102
-
-
4544387969
-
Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers
-
Priori S.G., Napolitano C., Schwartz P.J., et al. Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. J Am Med Assoc 2004, 292:1341-1344.
-
(2004)
J Am Med Assoc
, vol.292
, pp. 1341-1344
-
-
Priori, S.G.1
Napolitano, C.2
Schwartz, P.J.3
-
103
-
-
4043121130
-
Low incidence of cardiac events with beta-blocking therapy in children with long QT syndrome
-
Villain E., Denjoy I., Lupoglazoff J.M., et al. Low incidence of cardiac events with beta-blocking therapy in children with long QT syndrome. Eur Heart J 2004, 25:1405-1411.
-
(2004)
Eur Heart J
, vol.25
, pp. 1405-1411
-
-
Villain, E.1
Denjoy, I.2
Lupoglazoff, J.M.3
-
104
-
-
0037134902
-
Differential effects of beta-blockade on dispersion of repolarization in the absence and presence of sympathetic stimulation between the LQT1 and LQT2 forms of congenital long QT syndrome
-
Shimizu W., Tanabe Y., Aiba T., et al. Differential effects of beta-blockade on dispersion of repolarization in the absence and presence of sympathetic stimulation between the LQT1 and LQT2 forms of congenital long QT syndrome. J Am Coll Cardiol 2002, 39:1984-1991.
-
(2002)
J Am Coll Cardiol
, vol.39
, pp. 1984-1991
-
-
Shimizu, W.1
Tanabe, Y.2
Aiba, T.3
-
105
-
-
6044273765
-
Beta-blocker therapy failures in symptomatic probands with genotyped long-QT syndrome
-
Chatrath R., Bell C.M., Ackerman M.J. Beta-blocker therapy failures in symptomatic probands with genotyped long-QT syndrome. Pediatr Cardiol 2004, 25:459-465.
-
(2004)
Pediatr Cardiol
, vol.25
, pp. 459-465
-
-
Chatrath, R.1
Bell, C.M.2
Ackerman, M.J.3
-
106
-
-
84868568919
-
Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2: higher recurrence of events under metoprolol
-
Chockalingam P., Crotti L., Girardengo G., et al. Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2: higher recurrence of events under metoprolol. J Am Coll Cardiol 2012, 60:2092-2099.
-
(2012)
J Am Coll Cardiol
, vol.60
, pp. 2092-2099
-
-
Chockalingam, P.1
Crotti, L.2
Girardengo, G.3
-
107
-
-
77956219435
-
Left cardiac sympathetic denervation for the prevention of life-threatening arrhythmias: the surgical supraclavicular approach to cervicothoracic sympathectomy
-
Odero A., Bozzani A., De Ferrari G.M., Schwartz P.J. Left cardiac sympathetic denervation for the prevention of life-threatening arrhythmias: the surgical supraclavicular approach to cervicothoracic sympathectomy. Heart Rhythm 2010, 7:1161-1165.
-
(2010)
Heart Rhythm
, vol.7
, pp. 1161-1165
-
-
Odero, A.1
Bozzani, A.2
De Ferrari, G.M.3
Schwartz, P.J.4
-
108
-
-
53949110773
-
Video-assisted thoracoscopic cardiac denervation: a potential novel therapeutic option for children with intractable ventricular arrhythmias
-
Atallah J., Fynn-Thompson F., Cecchin F., DiBardino D.J., Walsh E.P., Berul C.I. Video-assisted thoracoscopic cardiac denervation: a potential novel therapeutic option for children with intractable ventricular arrhythmias. Ann Thorac Surg 2008, 86:1620-1625.
-
(2008)
Ann Thorac Surg
, vol.86
, pp. 1620-1625
-
-
Atallah, J.1
Fynn-Thompson, F.2
Cecchin, F.3
DiBardino, D.J.4
Walsh, E.P.5
Berul, C.I.6
-
109
-
-
65649109353
-
Left cardiac sympathetic denervation for the treatment of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia using video-assisted thoracic surgery
-
Collura C.A., Johnson J.N., Moir C., Ackerman M.J. Left cardiac sympathetic denervation for the treatment of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia using video-assisted thoracic surgery. Heart Rhythm 2009, 6:752-759.
-
(2009)
Heart Rhythm
, vol.6
, pp. 752-759
-
-
Collura, C.A.1
Johnson, J.N.2
Moir, C.3
Ackerman, M.J.4
-
110
-
-
0017066769
-
Effects of unilateral cardiac sympathetic denervation on the ventricular fibrillation threshold
-
Schwartz P.J., Snebold N.G., Brown A.M. Effects of unilateral cardiac sympathetic denervation on the ventricular fibrillation threshold. Am J Cardiol 1976, 37:1034-1040.
-
(1976)
Am J Cardiol
, vol.37
, pp. 1034-1040
-
-
Schwartz, P.J.1
Snebold, N.G.2
Brown, A.M.3
-
111
-
-
11144356780
-
Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome
-
Schwartz P.J., Priori S.G., Cerrone M., et al. Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome. Circulation 2004, 109:1826-1833.
-
(2004)
Circulation
, vol.109
, pp. 1826-1833
-
-
Schwartz, P.J.1
Priori, S.G.2
Cerrone, M.3
-
112
-
-
80655137836
-
Left thorascopic sympathectomy for refractory long QT syndrome in children
-
Hwang S.W., Thomas J.G., Whitehead W.E., et al. Left thorascopic sympathectomy for refractory long QT syndrome in children. J Neurosurg Pediatr 2011, 8:455-459.
-
(2011)
J Neurosurg Pediatr
, vol.8
, pp. 455-459
-
-
Hwang, S.W.1
Thomas, J.G.2
Whitehead, W.E.3
-
113
-
-
84867162022
-
Videoscopic left cardiac sympathetic denervation for patients with recurrent ventricular fibrillation/malignant ventricular arrhythmia syndromes besides congenital long-QT syndrome
-
Coleman M.A., Bos J.M., Johnson J.N., et al. Videoscopic left cardiac sympathetic denervation for patients with recurrent ventricular fibrillation/malignant ventricular arrhythmia syndromes besides congenital long-QT syndrome. Circ Arrhythm Electrophysiol 2012, 5:782-788.
-
(2012)
Circ Arrhythm Electrophysiol
, vol.5
, pp. 782-788
-
-
Coleman, M.A.1
Bos, J.M.2
Johnson, J.N.3
-
114
-
-
77957948803
-
Who are the long-QT syndrome patients who receive an implantable cardioverter-defibrillator and what happens to them?: data from the European Long-QT Syndrome Implantable Cardioverter-Defibrillator (LQTS ICD) Registry
-
Schwartz P.J., Spazzolini C., Priori S.G., et al. Who are the long-QT syndrome patients who receive an implantable cardioverter-defibrillator and what happens to them?: data from the European Long-QT Syndrome Implantable Cardioverter-Defibrillator (LQTS ICD) Registry. Circulation 2010, 122:1272-1282.
-
(2010)
Circulation
, vol.122
, pp. 1272-1282
-
-
Schwartz, P.J.1
Spazzolini, C.2
Priori, S.G.3
-
115
-
-
78149268639
-
Implantable cardioverter defibrillator therapy for congenital long QT syndrome: a single-center experience
-
Horner J.M., Kinoshita M., Webster T.L., Haglund C.M., Friedman P.A., Ackerman M.J. Implantable cardioverter defibrillator therapy for congenital long QT syndrome: a single-center experience. Heart Rhythm 2010, 7:1616-1622.
-
(2010)
Heart Rhythm
, vol.7
, pp. 1616-1622
-
-
Horner, J.M.1
Kinoshita, M.2
Webster, T.L.3
Haglund, C.M.4
Friedman, P.A.5
Ackerman, M.J.6
-
116
-
-
59849102447
-
High efficacy of beta-blockers in long-QT syndrome type 1: contribution of noncompliance and QT-prolonging drugs to the occurrence of beta-blocker treatment "failures"
-
Vincent G.M., Schwartz P.J., Denjoy I., et al. High efficacy of beta-blockers in long-QT syndrome type 1: contribution of noncompliance and QT-prolonging drugs to the occurrence of beta-blocker treatment "failures". Circulation 2009, 119:215-221.
-
(2009)
Circulation
, vol.119
, pp. 215-221
-
-
Vincent, G.M.1
Schwartz, P.J.2
Denjoy, I.3
-
117
-
-
0033501125
-
Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome
-
Ackerman M.J., Tester D.J., Porter C.J. Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome. Mayo Clin Proc 1999, 74:1088-1094.
-
(1999)
Mayo Clin Proc
, vol.74
, pp. 1088-1094
-
-
Ackerman, M.J.1
Tester, D.J.2
Porter, C.J.3
-
118
-
-
17144365081
-
Task Force 7: arrhythmias
-
Zipes D.P., Ackerman M.J., Estes N.A., Grant A.O., Myerburg R.J., Van Hare G. Task Force 7: arrhythmias. J Am Coll Cardiol 2005, 45:1354-1363.
-
(2005)
J Am Coll Cardiol
, vol.45
, pp. 1354-1363
-
-
Zipes, D.P.1
Ackerman, M.J.2
Estes, N.A.3
Grant, A.O.4
Myerburg, R.J.5
Van Hare, G.6
-
119
-
-
24144462322
-
Recommendations for competitive sports participation in athletes with cardiovascular disease: a consensus document from the Study Group of Sports Cardiology of the Working Group of Cardiac Rehabilitation and Exercise Physiology and the Working Group of Myocardial and Pericardial Diseases of the European Society of Cardiology
-
Pelliccia A., Fagard R., Bjornstad H.H., et al. Recommendations for competitive sports participation in athletes with cardiovascular disease: a consensus document from the Study Group of Sports Cardiology of the Working Group of Cardiac Rehabilitation and Exercise Physiology and the Working Group of Myocardial and Pericardial Diseases of the European Society of Cardiology. Eur Heart J 2005, 26:1422-1445.
-
(2005)
Eur Heart J
, vol.26
, pp. 1422-1445
-
-
Pelliccia, A.1
Fagard, R.2
Bjornstad, H.H.3
-
120
-
-
84865312339
-
Competitive sports participation in athletes with congenital long QT syndrome
-
Johnson J.N., Ackerman M.J. Competitive sports participation in athletes with congenital long QT syndrome. J Am Med Assoc 2012, 308:764-765.
-
(2012)
J Am Med Assoc
, vol.308
, pp. 764-765
-
-
Johnson, J.N.1
Ackerman, M.J.2
-
121
-
-
84871238782
-
Return to play? Athletes with congenital long QT syndrome
-
Johnson J.N., Ackerman M.J. Return to play? Athletes with congenital long QT syndrome. Br J Sports Med 2013, 47:28-33.
-
(2013)
Br J Sports Med
, vol.47
, pp. 28-33
-
-
Johnson, J.N.1
Ackerman, M.J.2
-
122
-
-
0033081030
-
Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1)
-
Wilde A.A., Jongbloed R.J., Doevendans P.A., et al. Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-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
-
123
-
-
0032502041
-
Influence of pregnancy on the risk for cardiac events in patients with hereditary long QT syndrome. LQTS investigators
-
Rashba E.J., Zareba W., Moss A.J., et al. Influence of pregnancy on the risk for cardiac events in patients with hereditary long QT syndrome. LQTS investigators. Circulation 1998, 97:451-456.
-
(1998)
Circulation
, vol.97
, pp. 451-456
-
-
Rashba, E.J.1
Zareba, W.2
Moss, A.J.3
-
124
-
-
2442532568
-
Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome
-
Khositseth A., Tester D.J., Will M.L., Bell C.M., Ackerman M.J. Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome. Heart Rhythm 2004, 1:60-64.
-
(2004)
Heart Rhythm
, vol.1
, pp. 60-64
-
-
Khositseth, A.1
Tester, D.J.2
Will, M.L.3
Bell, C.M.4
Ackerman, M.J.5
-
125
-
-
33644801191
-
Safety and efficacy of flecainide in subjects with long QT-3 syndrome (DeltaKPQ mutation): a randomized, double-blind, placebo-controlled clinical trial
-
Moss A.J., Windle J.R., Hall W.J., et al. Safety and efficacy of flecainide in subjects with long QT-3 syndrome (DeltaKPQ mutation): a randomized, double-blind, placebo-controlled clinical trial. Ann Noninvasive Electrocardiol 2005, 10:59-66.
-
(2005)
Ann Noninvasive Electrocardiol
, vol.10
, pp. 59-66
-
-
Moss, A.J.1
Windle, J.R.2
Hall, W.J.3
-
126
-
-
34548378735
-
Gating properties of SCN5A mutations and the response to mexiletine in long-QT syndrome type 3 patients
-
Ruan Y., Liu N., Bloise R., Napolitano C., Priori S.G. Gating properties of SCN5A mutations and the response to mexiletine in long-QT syndrome type 3 patients. Circulation 2007, 116:1137-1144.
-
(2007)
Circulation
, vol.116
, pp. 1137-1144
-
-
Ruan, Y.1
Liu, N.2
Bloise, R.3
Napolitano, C.4
Priori, S.G.5
-
127
-
-
70350506309
-
Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel
-
Wang D.W., Crotti L., Shimizu W., et al. Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel. Circ Arrhythm Electrophysiol 2008, 1:370-378.
-
(2008)
Circ Arrhythm Electrophysiol
, vol.1
, pp. 370-378
-
-
Wang, D.W.1
Crotti, L.2
Shimizu, W.3
-
128
-
-
0034730085
-
The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge
-
Priori S.G., Napolitano C., Schwartz P.J., Bloise R., Crotti L., Ronchetti E. The elusive link between LQT3 and Brugada syndrome: the role of flecainide challenge. Circulation 2000, 102:945-947.
-
(2000)
Circulation
, vol.102
, pp. 945-947
-
-
Priori, S.G.1
Napolitano, C.2
Schwartz, P.J.3
Bloise, R.4
Crotti, L.5
Ronchetti, E.6
-
129
-
-
33646386662
-
Molecular basis of ranolazine block of LQT-3 mutant sodium channels: evidence for site of action
-
Fredj S., Sampson K.J., Liu H., Kass R.S. Molecular basis of ranolazine block of LQT-3 mutant sodium channels: evidence for site of action. Br J Pharmacol 2006, 148:16-24.
-
(2006)
Br J Pharmacol
, vol.148
, pp. 16-24
-
-
Fredj, S.1
Sampson, K.J.2
Liu, H.3
Kass, R.S.4
-
130
-
-
53049104215
-
Ranolazine shortens repolarization in patients with sustained inward sodium current due to type-3 long-QT syndrome
-
Moss A.J., Zareba W., Schwarz K.Q., Rosero S., McNitt S., Robinson J.L. Ranolazine shortens repolarization in patients with sustained inward sodium current due to type-3 long-QT syndrome. J Cardiovasc Electrophysiol 2008, 19:1289-1293.
-
(2008)
J Cardiovasc Electrophysiol
, vol.19
, pp. 1289-1293
-
-
Moss, A.J.1
Zareba, W.2
Schwarz, K.Q.3
Rosero, S.4
McNitt, S.5
Robinson, J.L.6
-
131
-
-
78650549525
-
Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals
-
Goldenberg I., Horr S., Moss A.J., et al. Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. J Am Coll Cardiol 2011, 57:51-59.
-
(2011)
J Am Coll Cardiol
, vol.57
, pp. 51-59
-
-
Goldenberg, I.1
Horr, S.2
Moss, A.J.3
-
132
-
-
84884482008
-
Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome
-
Boczek N.J., Best J.M., Tester D.J., Giudicessi J.R., Middha S., Evans J.M., Kamp T.J., Ackerman M.J. Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome. Circ Cardiovasc Genet 2013 Jun, 6:279-289.
-
(2013)
Circ Cardiovasc Genet
, vol.6
, pp. 279-289
-
-
Boczek, N.J.1
Best, J.M.2
Tester, D.J.3
Giudicessi, J.R.4
Middha, S.5
Evans, J.M.6
Kamp, T.J.7
Ackerman, M.J.8
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