-
1
-
-
17944381537
-
Task force on sudden cardiac death of the European society of cardiology
-
Priori SG, Aliot E, Blomstrom-Lundqvist C et al.: Task Force on Sudden Cardiac Death of the European Society of Cardiology. Eur. Heart J. 22, 1374-1450 (2001).
-
(2001)
Eur. Heart J.
, vol.22
, pp. 1374-1450
-
-
Priori, S.G.1
Aliot, E.2
Blomstrom-Lundqvist, C.3
-
2
-
-
34548165798
-
Sudden cardiac death: Epidemiology, mechanisms, and therapy
-
Turakhia M, Tseng ZH: Sudden cardiac death: epidemiology, mechanisms, and therapy. Curr. Probl. Cardiol. 32, 501-546 (2007).
-
(2007)
Curr. Probl. Cardiol.
, vol.32
, pp. 501-546
-
-
Turakhia, M.1
Tseng, Z.H.2
-
3
-
-
0031880823
-
The molecular genetics of arrhythmias and sudden death
-
Brugada R, Roberts R: The molecular genetics of arrhythmias and sudden death. Clin. Cardiol. 21, 553-560 (1998).
-
(1998)
Clin. Cardiol.
, vol.21
, pp. 553-560
-
-
Brugada, R.1
Roberts, R.2
-
4
-
-
25144503454
-
Genetics of cardiac arrhythmias
-
Wilde AA, Bezzina CR: Genetics of cardiac arrhythmias. Heart 91, 1352-1358 (2005).
-
(2005)
Heart
, vol.91
, pp. 1352-1358
-
-
Wilde, A.A.1
Bezzina, C.R.2
-
5
-
-
47649093067
-
Congenital long QT syndrome
-
Crotti L, Celano G, Dagradi F, Schwartz PJ: Congenital long QT syndrome. Orphanet. J. Rare Dis. 3, 18 (2008).
-
(2008)
Orphanet. J. Rare Dis.
, vol.3
, pp. 18
-
-
Crotti, L.1
Celano, G.2
Dagradi, F.3
Schwartz, P.J.4
-
7
-
-
0021919042
-
The long QT syndrome: A prospective international study
-
Description of an initiative that turned out to be extremely valuable in later years. Most of the knowledge regarding all different aspects of the long QT syndrome LQTS stems from this international registry run by Moss and Schwartz
-
Moss AJ, Schwartz PJ, Crampton RS, Locati E, Carleen E: The long QT syndrome: a prospective international study. Circulation 71, 17-21 (1985). Description of an initiative that turned out to be extremely valuable in later years. Most of the knowledge regarding all different aspects of the long QT syndrome (LQTS) stems from this international registry run by Moss and Schwartz.
-
(1985)
Circulation
, vol.71
, pp. 17-21
-
-
Moss, A.J.1
Schwartz, P.J.2
Crampton, R.S.3
Locati, E.4
Carleen, E.5
-
8
-
-
0025935591
-
The long QT syndrome. Prospective longitudinal study of 328 families
-
Moss AJ, Schwartz PJ, Crampton RS et al.: The long QT syndrome. Prospective longitudinal study of 328 families. Circulation 84, 1136-1144 (1991).
-
(1991)
Circulation
, vol.84
, pp. 1136-1144
-
-
Moss, A.J.1
Schwartz, P.J.2
Crampton, R.S.3
-
9
-
-
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. 54, 59-68 (1957).
-
(1957)
Am. Heart J.
, vol.54
, pp. 59-68
-
-
Jervell, A.1
Lange-Nielsen, F.2
-
10
-
-
0030918946
-
Molecular basis of the long-QT syndrome associated with deafness
-
DOI 10.1056/NEJM199705293362204
-
Splawski I, Timothy KW, Vincent GM, Atkinson DL, Keating MT: Molecular basis of the long-QT syndrome associated with deafness. N. Engl. J. Med. 336, 1562-1567 (1997). (Pubitemid 27231157)
-
(1997)
New England Journal of Medicine
, vol.336
, Issue.22
, pp. 1562-1567
-
-
Splawski, I.1
Timothy, K.W.2
Michael Vincent, G.3
Atkinson, D.L.4
Keating, M.T.5
-
12
-
-
0000387603
-
A new familial cardiac syndrome in children
-
Ward OC: A new familial cardiac syndrome in children. J. Ir. Med. Assoc. 54, 103-106 (1964).
-
(1964)
J. Ir. Med. Assoc.
, vol.54
, pp. 103-106
-
-
Ward, O.C.1
-
13
-
-
70449367296
-
Prevalence of the long-QT syndrome
-
First study showing actual prevalence of LQTS from a population-based study that began with electrocardiographic screening in the neonatal period
-
Schwartz PJ, Stramba-Badiale M, Crotti L et al.: Prevalence of the long-QT syndrome. Circulation 120, 1761-1767 (2009). First study showing actual prevalence of LQTS from a population-based study that began with electrocardiographic screening in the neonatal period.
-
(2009)
Circulation
, vol.120
, pp. 1761-1767
-
-
Schwartz, P.J.1
Stramba-Badiale, M.2
Crotti, L.3
-
15
-
-
0026786140
-
Sex differences in the evolution of the electrocardiographic QT-interval with age
-
Rautaharju PM, Zhou SH, Wong S et al.: Sex differences in the evolution of the electrocardiographic QT-interval with age. Can. J. Cardiol. 8, 690-695 (1992).
-
(1992)
Can. J. Cardiol.
, vol.8
, pp. 690-695
-
-
Rautaharju, P.M.1
Zhou, S.H.2
Wong, S.3
-
16
-
-
2442514256
-
Heart rate dependence of the QT-interval duration: Differences among congenital long QT syndrome subtypes
-
Nemec J, Buncova M, Bulkova V et al.: Heart rate dependence of the QT-interval duration: differences among congenital long QT syndrome subtypes. J. Cardiovasc. Electrophysiol. 15, 550-556 (2004).
-
(2004)
J. Cardiovasc. Electrophysiol.
, vol.15
, pp. 550-556
-
-
Nemec, J.1
Buncova, M.2
Bulkova, V.3
-
17
-
-
0037448805
-
Exercise stress test amplifies genotypephenotype correlation in the LQT1 and LQT2 forms of the long-QT syndrome
-
Takenaka K, Ai T, Shimizu W et al.: Exercise stress test amplifies genotypephenotype correlation in the LQT1 and LQT2 forms of the long-QT syndrome. Circulation 107, 838-844 (2003).
-
(2003)
Circulation
, vol.107
, pp. 838-844
-
-
Takenaka, K.1
Ai, T.2
Shimizu, W.3
-
18
-
-
33645837018
-
Epinephrine QT stress testing in the evaluation of congenital long-QT syndrome: Diagnostic accuracy of the paradoxical QT response
-
Vyas H, Hejlik J, Ackerman MJ: Epinephrine QT stress testing in the evaluation of congenital long-QT syndrome: diagnostic accuracy of the paradoxical QT response. Circulation 113, 1385-1392 (2006).
-
(2006)
Circulation
, vol.113
, pp. 1385-1392
-
-
Vyas, H.1
Hejlik, J.2
Ackerman, M.J.3
-
19
-
-
0037329069
-
The use of genotype-phenotype correlations in mutation ana lysis for the long QT syndrome
-
van Langen IM, Birnie E, Alders M, Jongboed RJ, Le Marec H, Wilde AA: The use of genotype-phenotype correlations in mutation ana lysis for the long QT syndrome. J. Med. Genet. 40, 141-145 (2003).
-
(2003)
J. Med. Genet.
, vol.40
, pp. 141-145
-
-
Van Langen, I.M.1
Birnie, E.2
Alders, M.3
Jongboed, R.J.4
Le Marec, H.5
Wilde, A.A.6
-
20
-
-
29144494740
-
Genetic testing in the long QT syndrome: Development and validation of an efficient approach to genotyping in clinical practice
-
Napolitano C, Priori SG, Schwartz PJ et al.: Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA 294, 2975-2980 (2005).
-
(2005)
JAMA
, vol.294
, pp. 2975-2980
-
-
Napolitano, C.1
Priori, S.G.2
Schwartz, P.J.3
-
22
-
-
0033501125
-
Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome
-
Ackerman MJ, Tester DJ, Porter CJ: Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome. Mayo Clin. Proc. 74, 1088-1094 (1999).
-
(1999)
Mayo Clin. Proc.
, vol.74
, pp. 1088-1094
-
-
Ackerman, M.J.1
Tester, D.J.2
Porter, C.J.3
-
23
-
-
0035830365
-
Genotype-phenotype correlation in the long-QT syndrome: Gene-specific triggers for life-threatening arrhythmias
-
Largest series of genotype-phenotype relationship in LQTS demonstrating clear evidence for genotype-specific triggers for cardiac events. Also includes genotype-specific effects of β-blocker therapy
-
Schwartz PJ, Priori SG, Spazzolini C et al.: Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 103, 89-95 (2001). Largest series of genotype-phenotype relationship in LQTS demonstrating clear evidence for genotype-specific triggers for cardiac events. Also includes genotype-specific effects of β-blocker therapy.
-
(2001)
Circulation
, vol.103
, pp. 89-95
-
-
Schwartz, P.J.1
Priori, S.G.2
Spazzolini, C.3
-
24
-
-
33750974463
-
Genotype-specific onset of arrhythmias in congenital long-QT syndrome: Possible therapy implications
-
Tan HL, Bardai A, Shimizu W et al.: Genotype-specific onset of arrhythmias in congenital long-QT syndrome: possible therapy implications. Circulation 114 (20), 2096-2103 (2006).
-
(2006)
Circulation
, vol.114
, Issue.20
, pp. 2096-2103
-
-
Tan, H.L.1
Bardai, A.2
Shimizu, W.3
-
25
-
-
22044453803
-
Developmental aspects of long QT syndrome type 3 and Brugada syndrome on the basis of a single SCN5A mutation in childhood
-
Beaufort-Krol GC, van den Berg MP, Wilde AA et al.: Developmental aspects of long QT syndrome type 3 and Brugada syndrome on the basis of a single SCN5A mutation in childhood. J. Am. Coll. Cardiol. 46, 331-337 (2005).
-
(2005)
J. Am. Coll. Cardiol.
, vol.46
, pp. 331-337
-
-
Beaufort-Krol, G.C.1
Van Den Berg, M.P.2
Wilde, A.A.3
-
26
-
-
33748752499
-
Ankyrins and human disease: What the electrophysiologist should know
-
Mohler PJ: Ankyrins and human disease: what the electrophysiologist should know. J. Cardiovasc. Electrophysiol. 17, 1153-1159 (2006).
-
(2006)
J. Cardiovasc. Electrophysiol.
, vol.17
, pp. 1153-1159
-
-
Mohler, P.J.1
-
27
-
-
0242464931
-
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death
-
Mohler PJ, Schott JJ, Gramolini AO et al.: Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 421, 634-639 (2003).
-
(2003)
Nature
, vol.421
, pp. 634-639
-
-
Mohler, P.J.1
Schott, J.J.2
Gramolini, A.O.3
-
28
-
-
0030723260
-
Mutations in the hminK gene cause long QT syndrome and suppress IKs function
-
Splawski I, Tristani-Firouzi M, Lehmann MH, Sanguinetti MC, Keating MT: Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat. Genet. 17, 338-340 (1997).
-
(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
-
29
-
-
0034609531
-
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
-
Report of the first 2500 consecutive unrelated patients referred for the FAMILION ® long QT syndrome genetic test. Provides a large database of identified mutations
-
Splawski I, Shen J, Timothy KW et al.: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 102, 1178-1185 (2000). Report of the first 2500 consecutive unrelated patients referred for the FAMILION ® long QT syndrome genetic test. Provides a large database of identified mutations.
-
(2000)
Circulation
, vol.102
, pp. 1178-1185
-
-
Splawski, I.1
Shen, J.2
Timothy, K.W.3
-
30
-
-
0033574273
-
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia
-
Abbott GW, Sesti F, Splawski I et al.: MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 97, 175-187 (1999).
-
(1999)
Cell.
, vol.97
, pp. 175-187
-
-
Abbott, G.W.1
Sesti, F.2
Splawski, I.3
-
31
-
-
35748970456
-
Impact of ancillary subunits on ventricular repolarization
-
Abbott GW, Xu X, Roepke TK: Impact of ancillary subunits on ventricular repolarization. J. Electrocardiol. 40 (6 Suppl.), S42-S46 (2007).
-
(2007)
J. Electrocardiol.
, vol.40
, Issue.6 SUPPL.
-
-
Abbott, G.W.1
Xu, X.2
Roepke, T.K.3
-
33
-
-
5344223383
-
Ca (V) 1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
-
Splawski I, Timothy KW, Sharpe LM et al.: Ca (V) 1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 119, 19-31 (2004).
-
(2004)
Cell.
, vol.119
, pp. 19-31
-
-
Splawski, I.1
Timothy, K.W.2
Sharpe, L.M.3
-
34
-
-
33947530651
-
Management and treatment of Andersen-Tawil syndrome (ATS)
-
Sansone V, Tawil R: Management and treatment of Andersen-Tawil syndrome (ATS). Neurotherapeutics 4, 233-237 (2007).
-
(2007)
Neurotherapeutics
, vol.4
, pp. 233-237
-
-
Sansone, V.1
Tawil, R.2
-
35
-
-
20444426877
-
Severe arrhythmia disorder caused by cardiac l-type calcium channel mutations
-
Splawski I, Timothy KW, Decher N et al.: Severe arrhythmia disorder caused by cardiac l-type calcium channel mutations. Proc. Natl Acad. Sci. USA 102, 8089-8096 (2005).
-
(2005)
Proc. Natl. Acad. Sci. USA
, vol.102
, pp. 8089-8096
-
-
Splawski, I.1
Timothy, K.W.2
Decher, N.3
-
36
-
-
33751016041
-
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome
-
Vatta M, Ackerman MJ, Ye B et al.: Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 114, 2104-2112 (2006).
-
(2006)
Circulation
, vol.114
, pp. 2104-2112
-
-
Vatta, M.1
Ackerman, M.J.2
Ye, B.3
-
37
-
-
33846510967
-
Novel mechanism for sudden infant death syndrome: Persistent late sodium current secondary to mutations in caveolin-3
-
Cronk LB, Ye B, Kaku T et al.: Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. Heart Rhythm 4, 161-166 (2007).
-
(2007)
Heart Rhythm
, vol.4
, pp. 161-166
-
-
Cronk, L.B.1
Ye, B.2
Kaku, T.3
-
38
-
-
34447307435
-
SCN4B-encoded sodium channel β4 subunit in congenital long-QT syndrome
-
Medeiros-Domingo A, Kaku T, Tester DJ et al.: SCN4B-encoded sodium channel β4 subunit in congenital long-QT syndrome. Circulation 116, 134-142 (2007).
-
(2007)
Circulation
, vol.116
, pp. 134-142
-
-
Medeiros-Domingo, A.1
Kaku, T.2
Tester, D.J.3
-
39
-
-
38049169040
-
Mutation of an A-kinase-anchoring protein causes long-QT syndrome
-
Chen L, Marquardt ML, Tester DJ, Sampson KJ, Ackerman MJ, Kass RS: Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Proc. Natl Acad. Sci. USA 104, 20990-20995 (2007).
-
(2007)
Proc. Natl. Acad. Sci. USA
, 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
-
40
-
-
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. USA 105, 9355-9360 (2008).
-
(2008)
Proc. Natl. Acad. Sci. USA
, vol.105
, pp. 9355-9360
-
-
Ueda, K.1
Valdivia, C.2
Medeiros-Domingo, A.3
-
41
-
-
0026466921
-
Right bundle branch block, persistent ST segment elevation and sudden cardiac death: A distinct clinical and electrocardiographic syndrome. A multicenter report
-
Brugada P, Brugada J: Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J. Am. Coll. Cardiol. 20, 1391-1396 (1992).
-
(1992)
J. Am. Coll. Cardiol.
, vol.20
, pp. 1391-1396
-
-
Brugada, P.1
Brugada, J.2
-
42
-
-
54549093729
-
Update on genetic ana lysis in Brugada syndrome
-
Miura D, Nakamura K, Ohe T: Update on genetic ana lysis in Brugada syndrome. Heart Rhythm 5, 1495-1496 (2008).
-
(2008)
Heart Rhythm
, vol.5
, pp. 1495-1496
-
-
Miura, D.1
Nakamura, K.2
Ohe, T.3
-
43
-
-
47049098424
-
Brugada syndrome
-
Benito B, Brugada R, Brugada J, Brugada P: Brugada syndrome. Prog Cardiovasc Dis 51, 1-22 (2008).
-
(2008)
Prog Cardiovasc. Dis.
, vol.51
, pp. 1-22
-
-
Benito, B.1
Brugada, R.2
Brugada, J.3
Brugada, P.4
-
44
-
-
13444300924
-
Brugada syndrome: Report of the second consensus conference: Endorsed by the Heart Rhythm Society and the European Heart Rhythm Association
-
Antzelevitch C, Brugada P, Borggrefe M et al.: Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation 111, 659-670 (2005).
-
(2005)
Circulation
, vol.111
, pp. 659-670
-
-
Antzelevitch, C.1
Brugada, P.2
Borggrefe, M.3
-
45
-
-
0037027510
-
Proposed diagnostic criteria for the Brugada syndrome: Consensus report
-
DOI 10.1161/01.CIR.0000034169.45752.4A
-
Wilde AA, Antzelevitch C, Borggrefe M et al.: Proposed diagnostic criteria for the Brugada syndrome: consensus report. Circulation 106, 2514-2519 (2002). (Pubitemid 35278811)
-
(2002)
Circulation
, vol.106
, Issue.19
, pp. 2514-2519
-
-
Wilde, A.A.M.1
Antzelevitch, C.2
Borggrefe, M.3
Brugada, J.4
Brugada, R.5
Brugada, P.6
Corrado, D.7
Hauer, R.N.W.8
Kass, R.S.9
Nademanee, K.10
Priori, S.G.11
Towbin, J.A.12
-
46
-
-
20144388932
-
Brugada syndrome: Report of the second consensus conference
-
DOI 10.1016/j.hrthm.2005.01.005, PII S1547527105000111
-
Antzelevitch C, Brugada P, Borggrefe M et al.: Brugada syndrome: report of the second consensus conference. Heart Rhythm 2, 429-440 (2005). (Pubitemid 40439292)
-
(2005)
Heart Rhythm
, vol.2
, Issue.4
, pp. 429-440
-
-
Antzelevich, C.1
Brugada, P.2
Borggrefe, M.3
Brugada, J.4
Brugada, R.5
Corrado, D.6
Gussak, I.7
LeMarec, H.8
Nademanee, K.9
Perez Riera, A.R.10
Shimizu, W.11
Schulze-Bahr, E.12
Tan, H.13
Wilde, A.14
-
47
-
-
68949205869
-
Drugs and Brugada syndrome patients: Review of the literature, recommendations, and an up-to-date website
-
Introduction of a website www.brugadadrugs.org reporting all drugs that should be avoided in patients with Brugada syndrome and drugs that are favorable. The website is up to date and based on worldwide published cases
-
Postema PG, Wolpert C, Amin AS et al.: Drugs and Brugada syndrome patients: review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org). Heart Rhythm 6, 1335-1341 (2009). Introduction of a website (www.brugadadrugs.org) reporting all drugs that should be avoided in patients with Brugada syndrome and drugs that are favorable. The website is up to date and based on worldwide published cases.
-
(2009)
Heart Rhythm
, vol.6
, pp. 1335-1341
-
-
Postema, P.G.1
Wolpert, C.2
Amin, A.S.3
-
48
-
-
0032546384
-
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
-
Chen Q, Kirsch G E, Zhang D et al.: Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 392, 293-296 (1998).
-
(1998)
Nature
, vol.392
, pp. 293-296
-
-
Chen, Q.1
Kirsch, G.E.2
Zhang, D.3
-
49
-
-
1442356568
-
Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: Different incidences in familial and sporadic disease
-
Schulze-Bahr E, Eckardt L, Breithardt G et al.: Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease. Hum. Mut. 21, 651-652 (2003).
-
(2003)
Hum. Mut.
, vol.21
, pp. 651-652
-
-
Schulze-Bahr, E.1
Eckardt, L.2
Breithardt, G.3
-
50
-
-
19944427789
-
Brugada syndrome: From cell to bedside
-
Antzelevitch C, Brugada P, Brugada J, Brugada R: Brugada syndrome: from cell to bedside. Curr. Probl. Cardiol. 30, 9-54 (2005).
-
(2005)
Curr. Probl. Cardiol.
, vol.30
, pp. 9-54
-
-
Antzelevitch, C.1
Brugada, P.2
Brugada, J.3
Brugada, R.4
-
51
-
-
77449091606
-
SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome
-
Probst V, Wilde A, Barc J et al.: SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Circ. Cardiovasc. Gen. 2, 552-557 (2009).
-
(2009)
Circ. Cardiovasc. Gen.
, vol.2
, pp. 552-557
-
-
Probst, V.1
Wilde, A.2
Barc, J.3
-
53
-
-
34249686444
-
Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort
-
Koopmann TT, Beekman L, Alders M et al.: Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort. Heart Rhythm 4, 752-755 (2007).
-
(2007)
Heart Rhythm
, vol.4
, pp. 752-755
-
-
Koopmann, T.T.1
Beekman, L.2
Alders, M.3
-
54
-
-
33846627787
-
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT-intervals, and sudden cardiac death
-
Antzelevitch C, Pollevick GD, Cordeiro JM et al.: Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT-intervals, and sudden cardiac death. Circulation 115, 442-449 (2007).
-
(2007)
Circulation
, vol.115
, pp. 442-449
-
-
Antzelevitch, C.1
Pollevick, G.D.2
Cordeiro, J.M.3
-
55
-
-
45749090058
-
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans
-
Watanabe H, Koopmann TT, Le SS et al.: Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J. Clin. Invest. 118, 2260-2268 (2008).
-
(2008)
J. Clin. Invest.
, vol.118
, pp. 2260-2268
-
-
Watanabe, H.1
Koopmann, T.T.2
Le, S.S.3
-
56
-
-
56849084185
-
Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome
-
Delpon E, Cordeiro JM, Nunez L et al.: Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. Circ. Arrhythm. Electrophysiol. 1, 209-218 (2008).
-
(2008)
Circ. Arrhythm. Electrophysiol.
, vol.1
, pp. 209-218
-
-
Delpon, E.1
Cordeiro, J.M.2
Nunez, L.3
-
57
-
-
69549145477
-
A mutation in the β 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype
-
Hu D, Barajas-Martinez H, Burashnikov E et al.: A mutation in the β 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. Circ. Cardiovasc. Genet. 2, 270-278 (2009).
-
(2009)
Circ. Cardiovasc. Genet.
, vol.2
, pp. 270-278
-
-
Hu, D.1
Barajas-Martinez, H.2
Burashnikov, E.3
-
58
-
-
0016662531
-
Bidirectional tachycardia in a child. A study using His bundle electrography
-
First series of considerable size of pediatric patients with catecholaminergic polymorphic ventricular tachycardia/fibrillation. Accurate description of the clincial phenotype
-
Reid DS, Tynan M, Braidwood L, Fitzgerald GR: Bidirectional tachycardia in a child. A study using His bundle electrography Br. Heart J. 37, 339-344 (1975). First series of considerable size of pediatric patients with catecholaminergic polymorphic ventricular tachycardia/fibrillation. Accurate description of the clincial phenotype.
-
(1975)
Br. Heart J.
, vol.37
, pp. 339-344
-
-
Reid, D.S.1
Tynan, M.2
Braidwood, L.3
Fitzgerald, G.R.4
-
59
-
-
0028957403
-
Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients
-
Leenhardt A, Lucet V, Denjoy I, Grau F, Ngoc DD, Coumel P: Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation 91, 1512-1519 (1995).
-
(1995)
Circulation
, vol.91
, pp. 1512-1519
-
-
Leenhardt, A.1
Lucet, V.2
Denjoy, I.3
Grau, F.4
Ngoc, D.D.5
Coumel, P.6
-
60
-
-
47049120519
-
Catecholaminergic polymorphic ventricular tachycardia
-
Liu N, Ruan Y, Priori SG: Catecholaminergic polymorphic ventricular tachycardia. Prog. Cardiovasc Dis. 51, 23-30 (2008).
-
(2008)
Prog. Cardiovasc. Dis.
, vol.51
, pp. 23-30
-
-
Liu, N.1
Ruan, Y.2
Priori, S.G.3
-
61
-
-
27744495444
-
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients
-
Detailed and systematic description of the yield of screening of the ryanodine receptor gene in patients with or considered to have catecholaminergic polymorphic ventricular tachycardia. The best screening strategy with current methods is probably a stepwise approach as to which exons should be screened
-
Postma AV, Denjoy I, Kamblock J et al.: Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. J. Med. Genet. 42, 863-870 (2005). Detailed and systematic description of the yield of screening of the ryanodine receptor gene in patients with or considered to have catecholaminergic polymorphic ventricular tachycardia. The best screening strategy with current methods is probably a stepwise approach as to which exons should be screened.
-
(2005)
J. Med. Genet.
, vol.42
, pp. 863-870
-
-
Postma, A.V.1
Denjoy, I.2
Kamblock, J.3
-
62
-
-
57049108713
-
Catecholaminergic polymorphic ventricular tachycardia from bedside to bench and beyond
-
Katz G, Arad M, Eldar M: Catecholaminergic polymorphic ventricular tachycardia from bedside to bench and beyond. Curr. Probl. Cardiol. 34, 9-43 (2009).
-
(2009)
Curr. Probl. Cardiol.
, vol.34
, pp. 9-43
-
-
Katz, G.1
Arad, M.2
Eldar, M.3
-
63
-
-
0035895322
-
Mutataions in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia
-
Priori SG, Napolitano C, Tiso N et al.: Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 103, 196-200 (2001). (Pubitemid 32095402)
-
(2001)
Circulation
, vol.103
, Issue.2
, pp. 196-200
-
-
Priori, S.G.1
Napolitano, C.2
Tiso, N.3
Memmi, M.4
Vignati, G.5
Bloise, R.6
Sorrentino, V.7
Danieli, G.A.8
-
64
-
-
0035969990
-
Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia
-
Laitinen PJ, Brown KM, Piippo K et al.: Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 103, 485-490 (2001).
-
(2001)
Circulation
, vol.103
, pp. 485-490
-
-
Laitinen, P.J.1
Brown, K.M.2
Piippo, K.3
-
65
-
-
0036645605
-
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia
-
Priori SG, Napolitano C, Memmi M et al.: Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 106, 69-74 (2002).
-
(2002)
Circulation
, vol.106
, pp. 69-74
-
-
Priori, S.G.1
Napolitano, C.2
Memmi, M.3
-
66
-
-
0141571322
-
Ryanodine receptor mutations associated with stressinduced ventricular tachycardia mediate increased calcium release in stimulated cardiomyocytes
-
George CH, Higgs GV, Lai FA: Ryanodine receptor mutations associated with stressinduced ventricular tachycardia mediate increased calcium release in stimulated cardiomyocytes. Circ. Res. 93, 531-540 (2003).
-
(2003)
Circ. Res.
, vol.93
, pp. 531-540
-
-
George, C.H.1
Higgs, G.V.2
Lai, F.A.3
-
67
-
-
4444298467
-
Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak
-
Lehnart SE, Wehrens XH, Laitinen PJ et al.: Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak. Circulation 109, 3208-3214 (2004).
-
(2004)
Circulation
, vol.109
, pp. 3208-3214
-
-
Lehnart, S.E.1
Wehrens, X.H.2
Laitinen, P.J.3
-
69
-
-
0035205336
-
A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel
-
Lahat H, Pras E, Olender T et al.: A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am. J. Hum. Genet. 69, 1378-1384 (2001).
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 1378-1384
-
-
Lahat, H.1
Pras, E.2
Olender, T.3
-
70
-
-
0037131020
-
Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia
-
Postma AV, Denjoy I, Hoorntje TM et al.: Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. Circ. Res. 91, E21-E26 (2002).
-
(2002)
Circ. Res.
, vol.91
-
-
Postma, A.V.1
Denjoy, I.2
Hoorntje, T.M.3
-
71
-
-
0035849570
-
Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: Clinical features and assignment of the disease gene to chromosome 1p13-21
-
Lahat H, Eldar M, Levy-Nissenbaum E et al.: Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21. Circulation 103, 2822-2827 (2001).
-
(2001)
Circulation
, vol.103
, pp. 2822-2827
-
-
Lahat, H.1
Eldar, M.2
Levy-Nissenbaum, E.3
-
72
-
-
34447133403
-
Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia
-
Song L, Alcalai R, Arad M, Wolf C M et al.: Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia. J. Clin. Invest. 117, 1814-1823 (2007).
-
(2007)
J. Clin. Invest.
, vol.117
, pp. 1814-1823
-
-
Song, L.1
Alcalai, R.2
Arad, M.3
Wolf, C.M.4
-
73
-
-
34548660764
-
A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22
-
Bhuiyan ZA, Hamdan MA, Shamsi ET et al.: A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22. J. Cardiovasc. Electrophysiol. 18, 1060-1066 (2007).
-
(2007)
J. Cardiovasc. Electrophysiol.
, vol.18
, pp. 1060-1066
-
-
Bhuiyan, Z.A.1
Hamdan, M.A.2
Shamsi, E.T.3
-
74
-
-
41749114920
-
Clinical and molecular genetics of the short QT syndrome
-
Schimpf R, Borggrefe M, Wolpert C: Clinical and molecular genetics of the short QT syndrome. Curr. Opin. Cardiol. 23, 192-198 (2008).
-
(2008)
Curr. Opin. Cardiol.
, vol.23
, pp. 192-198
-
-
Schimpf, R.1
Borggrefe, M.2
Wolpert, C.3
-
75
-
-
50149112857
-
The QT syndromes: Long and short
-
Morita H, Wu J, Zipes DP: The QT syndromes: long and short. Lancet 372, 750-763 (2008).
-
(2008)
Lancet
, vol.372
, pp. 750-763
-
-
Morita, H.1
Wu, J.2
Zipes, D.P.3
-
77
-
-
33749454557
-
Short QT syndrome: Clinical findings and diagnostic-therapeutic implications
-
Giustetto C, Di M F, Wolpert C et al.: Short QT syndrome: clinical findings and diagnostic-therapeutic implications. Eur. Heart J. 27, 2440-2447 (2006).
-
(2006)
Eur. Heart J.
, vol.27
, pp. 2440-2447
-
-
Giustetto, C.1
Di, M.F.2
Wolpert, C.3
-
78
-
-
0034487308
-
Idiopathic short QT-interval: A new clinical syndrome?
-
Gussak I, Brugada P, Brugada J et al.: Idiopathic short QT-interval: a new clinical syndrome? Cardiology 94, 99-102 (2000).
-
(2000)
Cardiology
, vol.94
, pp. 99-102
-
-
Gussak, I.1
Brugada, P.2
Brugada, J.3
-
79
-
-
26944457703
-
Short QT syndrome: Should we push the frontier forward?
-
Maury P, Hollington L, Duparc A, Brugada R: Short QT syndrome: should we push the frontier forward? Heart Rhythm 2, 1135-1137 (2005).
-
(2005)
Heart Rhythm
, vol.2
, pp. 1135-1137
-
-
Maury, P.1
Hollington, L.2
Duparc, A.3
Brugada, R.4
-
80
-
-
34547925239
-
Prevalence and prognostic significance of short QT-interval in a middle-aged Finnish population
-
Anttonen O, Junttila M J, Rissanen H, Reunanen A, Viitasalo M, Huikuri HV: Prevalence and prognostic significance of short QT-interval in a middle-aged Finnish population. Circulation 116, 714-720 (2007).
-
(2007)
Circulation
, vol.116
, pp. 714-720
-
-
Anttonen, O.1
Junttila, M.J.2
Rissanen, H.3
Reunanen, A.4
Viitasalo, M.5
Huikuri, H.V.6
-
81
-
-
34250177587
-
Short QT syndrome
-
Wolpert C, Schimpf R, Veltmann C, Borggrefe M: Short QT syndrome. Herz 32, 206-210 (2007).
-
(2007)
Herz
, vol.32
, pp. 206-210
-
-
Wolpert, C.1
Schimpf, R.2
Veltmann, C.3
Borggrefe, M.4
-
82
-
-
26444448370
-
Short QT syndrome. Genotype-phenotype correlations
-
Borggrefe M, Wolpert C, Antzelevitch C et al.: Short QT syndrome. Genotype-phenotype correlations. J. Electrocardiol. 38 (4 Suppl.), 75-80 (2005).
-
(2005)
J. Electrocardiol.
, vol.38
, Issue.4 SUPPL.
, pp. 75-80
-
-
Borggrefe, M.1
Wolpert, C.2
Antzelevitch, C.3
-
83
-
-
0346727397
-
Sudden death associated with short-QT syndrome linked to mutations in HERG
-
Brugada R, Hong K, Dumaine R et al.: Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation 109, 30-35 (2004).
-
(2004)
Circulation
, vol.109
, pp. 30-35
-
-
Brugada, R.1
Hong, K.2
Dumaine, R.3
-
84
-
-
2542491002
-
Mutation in the KCNQ1 gene leading to the short QT-interval syndrome
-
Bellocq C, van Ginneken AC, Bezzina CR et al.: Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation 109, 2394-2397 (2004).
-
(2004)
Circulation
, vol.109
, pp. 2394-2397
-
-
Bellocq, C.1
Van Ginneken, A.C.2
Bezzina, C.R.3
-
85
-
-
20244364402
-
A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene
-
Priori S G, Pandit S V, Rivolta I A et al.: A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ. Res. 96, 800-807 (2005).
-
(2005)
Circ. Res.
, vol.96
, pp. 800-807
-
-
Priori, S.G.1
Pandit, S.V.2
Rivolta, I.A.3
-
86
-
-
52949096953
-
J-point elevation in survivors of primary ventricular fibrillation and matched control subjects: Incidence and clinical significance
-
Rosso R, Kogan E, Belhassen B et al.: J-point elevation in survivors of primary ventricular fibrillation and matched control subjects: incidence and clinical significance. J. Am. Coll. Cardiol. 52, 1231-1238 (2008).
-
(2008)
J. Am. Coll. Cardiol.
, vol.52
, pp. 1231-1238
-
-
Rosso, R.1
Kogan, E.2
Belhassen, B.3
-
87
-
-
43249129760
-
Sudden cardiac arrest associated with early repolarization
-
Seminal paper describing the link between early repolarization and malignant ventricular arrhythmias
-
Haidie;ssaguerre M, Derval N, Sacher F et al.: Sudden cardiac arrest associated with early repolarization. N. Engl. J. Med. 358, 2016-2023 (2008). Seminal paper describing the link between early repolarization and malignant ventricular arrhythmias.
-
(2008)
N. Engl. J. Med.
, vol.358
, pp. 2016-2023
-
-
Haidie1
ssaguerre, M.2
Derval, N.3
Sacher, F.4
-
88
-
-
58149136840
-
Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel
-
Haidie;ssaguerre M, Chatel S, Sacher F et al.: Ventricular fibrillation with prominent early repolarization associated with a rare variant of KCNJ8/KATP channel. J. Cardiovasc. Electrophysiol. 20, 93-98 (2009).
-
(2009)
J. Cardiovasc. Electrophysiol.
, vol.20
, pp. 93-98
-
-
Haidie1
ssaguerre, M.2
Chatel, S.3
Sacher, F.4
-
89
-
-
64249126720
-
Haplotype-sharing ana lysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation
-
First gene identified in idiopathic ventricular fibrillation and first example in which only a molecular genetic test is able to identify the patient at risk
-
Alders M, Koopmann TT, Christiaans I et al.: Haplotype-sharing ana lysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation. Am. J. Hum. Genet. 84, 468-476 (2009). First gene identified in idiopathic ventricular fibrillation and first example in which only a molecular genetic test is able to identify the patient at risk.
-
(2009)
Am. J. Hum. Genet.
, vol.84
, pp. 468-476
-
-
Alders, M.1
Koopmann, T.T.2
Christiaans, I.3
-
90
-
-
33645326225
-
Inherited conduction system abnormalities - One group of diseases, many genes
-
Wolf CM, Berul CI: Inherited conduction system abnormalities - one group of diseases, many genes. J. Cardiovasc. Electrophysiol. 17, 446-455 (2006).
-
(2006)
J. Cardiovasc. Electrophysiol.
, vol.17
, pp. 446-455
-
-
Wolf, C.M.1
Berul, C.I.2
-
91
-
-
0001487687
-
Etiology and pathology of bilateral bundle branch block in relation to complete heart block
-
Lenegre J: Etiology and pathology of bilateral bundle branch block in relation to complete heart block. Prog. Cardivasc. Dis. 6, 409-444 (1964).
-
(1964)
Prog. Cardivasc. Dis.
, vol.6
, pp. 409-444
-
-
Lenegre, J.1
-
92
-
-
0035931932
-
A sodium-channel mutation causes isolated cardiac conduction disease
-
Tan HL, Bink Boelkens MT, Bezzina CR et al.: A sodium-channel mutation causes isolated cardiac conduction disease. Nature 409, 1043-1047 (2001).
-
(2001)
Nature
, vol.409
, pp. 1043-1047
-
-
Tan, H.L.1
Boelkens, M.T.B.2
Bezzina, C.R.3
-
93
-
-
0035909898
-
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large France family
-
Kyndt F, Probst V, Potet F et al.: Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large France family Circulation 104, 3081-3086 (2001).
-
(2001)
Circulation
, vol.104
, pp. 3081-3086
-
-
Kyndt, F.1
Probst, V.2
Potet, F.3
-
94
-
-
74449093486
-
Mechanism of right precordial ST-segment elevation in structural heart disease: Excitation failure by current-to-load mismatch
-
Hoogendijk MG, Potse M, Linnenbank AC et al.: Mechanism of right precordial ST-segment elevation in structural heart disease: excitation failure by current-to-load mismatch. Heart Rhythm 7, 238-248 (2010).
-
(2010)
Heart Rhythm
, vol.7
, pp. 238-248
-
-
Hoogendijk, M.G.1
Potse, M.2
Linnenbank, A.C.3
-
95
-
-
0242317397
-
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)
-
Benson DW, Wang DW, Dyment M et al.: Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J. Clin. Invest. 112, 1019-1028 (2003).
-
(2003)
J. Clin. Invest.
, vol.112
, pp. 1019-1028
-
-
Benson, D.W.1
Wang, D.W.2
Dyment, M.3
-
96
-
-
42149147897
-
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation
-
Darbar D, Kannankeril PJ, Donahue BS et al.: Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation 117, 1927-1935 (2008).
-
(2008)
Circulation
, vol.117
, pp. 1927-1935
-
-
Darbar, D.1
Kannankeril, P.J.2
Donahue, B.S.3
-
97
-
-
59649127401
-
Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy
-
Johnson JN, Hofman N, Haglund CM, Cascino GD, Wilde AA, Ackerman MJ: Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy. Neurology 72, 224-231 (2009).
-
(2009)
Neurology
, vol.72
, pp. 224-231
-
-
Johnson, J.N.1
Hofman, N.2
Haglund, C.M.3
Cascino, G.D.4
Wilde, A.A.5
Ackerman, M.J.6
-
98
-
-
34648834397
-
Epilepsy? Video monitoring of long QT syndrome-related aborted sudden death
-
Rossenbacker T, Nuyens D, van Paesschen W, Heidbuchel H: Epilepsy? Video monitoring of long QT syndrome-related aborted sudden death. Heart Rhythm 4, 1366-1367 (2007).
-
(2007)
Heart Rhythm
, vol.4
, pp. 1366-1367
-
-
Rossenbacker, T.1
Nuyens, D.2
Van Paesschen, W.3
Heidbuchel, H.4
-
99
-
-
18644362889
-
SCN5A is expressed in human jejunal circular smooth muscle cells
-
DOI 10.1046/j.1365-2982.2002.00348.x
-
Ou Y, Gibbons SJ, Miller SM et al.: SCN5A is expressed in human jejunal circular smooth muscle cells. Neurogastroenterol. Motil. 14, 477-486 (2002). (Pubitemid 35216330)
-
(2002)
Neurogastroenterology and Motility
, vol.14
, Issue.5
, pp. 477-486
-
-
Ou, Y.1
Gibbons, S.J.2
Miller, S.M.3
Strege, P.R.4
Rich, A.5
Distad, M.A.6
Ackerman, M.J.7
Rae, J.L.8
Szurszewski, J.H.9
Farrugia, G.10
|