-
1
-
-
0032546384
-
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
-
DOI 10.1038/32675
-
Q. Chen, G.E. Kirsch, and D. Zhang Genetic basis and molecular mechanism for idiopathic ventricular fibrillation Nature 392 1998 293 296 (Pubitemid 28155103)
-
(1998)
Nature
, vol.392
, Issue.6673
, pp. 293-296
-
-
Chen, Q.1
Kirsch, G.E.2
Zhang, D.3
Brugada, R.4
Brugada, J.5
Brugada, P.6
Potenza, D.7
Moya, A.8
Borggrefe, M.9
Breithardt, G.10
Ortiz-Lopez, R.11
Wang, Z.12
Antzelevitch, C.13
O'Brlen, R.E.14
Schulze-Bahr, E.15
Keating, M.T.16
Towbin, J.A.17
Wang, Q.18
-
2
-
-
0028905566
-
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
-
Q. Wang, J. Shen, and I. Splawski SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome Cell 80 1995 805 811
-
(1995)
Cell
, vol.80
, pp. 805-811
-
-
Wang, Q.1
Shen, J.2
Splawski, I.3
-
3
-
-
33846046495
-
Prevalence of long-QT syndrome gene variants in sudden infant death syndrome
-
DOI 10.1161/CIRCULATIONAHA.106.658021, PII 0000301720070123000014
-
M. Arnestad, L. Crotti, and T.O. Rognum Prevalence of long-QT syndrome gene variants in sudden infant death syndrome Circulation 115 2007 361 367 (Pubitemid 46148510)
-
(2007)
Circulation
, vol.115
, Issue.3
, pp. 361-367
-
-
Arnestad, M.1
Crotti, L.2
Rognum, T.O.3
Insolia, R.4
Pedrazzini, M.5
Ferrandi, C.6
Vege, A.7
Wang, D.W.8
Rhodes, T.E.9
George, A.L.10
Schwartz, P.J.11
-
4
-
-
72949113423
-
Inherited cardiac diseases caused by mutations in the Nav1.5 sodium channel
-
J. Tfelt-Hansen, B.G. Winkel, and M. Grunnet Inherited cardiac diseases caused by mutations in the Nav1.5 sodium channel J Cardiovasc Electrophysiol 21 2010 107 115
-
(2010)
J Cardiovasc Electrophysiol
, vol.21
, pp. 107-115
-
-
Tfelt-Hansen, J.1
Winkel, B.G.2
Grunnet, M.3
-
5
-
-
61849156873
-
SCN5A channelopathiesan update on mutations and mechanisms
-
T. Zimmer, and R. Surber SCN5A channelopathiesan update on mutations and mechanisms Prog Biophys Mol Biol 98 2008 120 136
-
(2008)
Prog Biophys Mol Biol
, vol.98
, pp. 120-136
-
-
Zimmer, T.1
Surber, R.2
-
7
-
-
0029097799
-
Molecular mechanism for an inherited cardiac arrhythmia
-
P.B. Bennett, K. Yazawa, and N. Makita Molecular mechanism for an inherited cardiac arrhythmia Nature 376 1995 683 685
-
(1995)
Nature
, vol.376
, pp. 683-685
-
-
Bennett, P.B.1
Yazawa, K.2
Makita, N.3
-
8
-
-
22044453803
-
Developmental aspects of long QT syndrome type 3 and brugada syndrome on the basis of a single SCN5A mutation in childhood
-
DOI 10.1016/j.jacc.2005.03.066, PII S0735109705009162
-
G.C. Beaufort-Krol, M.P. van den Berg, and A.A. Wilde 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 2005 331 337 (Pubitemid 40966865)
-
(2005)
Journal of the American College of Cardiology
, vol.46
, Issue.2
, pp. 331-337
-
-
Beaufort-Krol, G.C.M.1
Van Den Berg, M.P.2
Wilde, A.A.M.3
Van Tintelen, J.P.4
Viersma, J.W.5
Bezzina, C.R.6
Bink-Boelkens, M.Th.E.7
-
9
-
-
1442356568
-
Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: Different incidences in familial and sporadic disease
-
E. Schulze-Bahr, L. Eckardt, and G. Breithardt Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease Hum Mutat 21 2003 651 652
-
(2003)
Hum Mutat
, vol.21
, pp. 651-652
-
-
Schulze-Bahr, E.1
Eckardt, L.2
Breithardt, G.3
-
10
-
-
33846425740
-
Cardiac sodium channel dysfunction in sudden infant death syndrome
-
DOI 10.1161/CIRCULATIONAHA.106.646513, PII 0000301720070123000015
-
D.W. Wang, R.R. Desai, and L. Crotti Cardiac sodium channel dysfunction in sudden infant death syndrome Circulation 115 2007 368 376 (Pubitemid 46148511)
-
(2007)
Circulation
, vol.115
, Issue.3
, pp. 368-376
-
-
Wang, D.W.1
Desai, R.R.2
Crotti, L.3
Arnestad, M.4
Insolia, R.5
Pedrazzini, M.6
Ferrandi, C.7
Vege, A.8
Rognum, T.9
Schwartz, P.J.10
George, A.L.11
-
11
-
-
67649547603
-
Sodium channel mutations and arrhythmias
-
Y. Ruan, N. Liu, and S.G. Priori Sodium channel mutations and arrhythmias Nat Rev Cardiol 6 2009 337 348
-
(2009)
Nat Rev Cardiol
, vol.6
, pp. 337-348
-
-
Ruan, Y.1
Liu, N.2
Priori, S.G.3
-
12
-
-
30744463265
-
Gene sequencing in neonates and infants with the long QT syndrome
-
S.H. Shim, M. Ito, and T. Maher Gene sequencing in neonates and infants with the long QT syndrome Genet Test 9 2005 281 284 (Pubitemid 43099618)
-
(2005)
Genetic Testing
, vol.9
, Issue.4
, pp. 281-284
-
-
Shim, S.H.1
Ito, M.2
Maker, T.3
Milunsky, A.4
-
13
-
-
71849107746
-
Etiology of sudden death in the community: Results of anatomical, metabolic, and genetic evaluation
-
A.S. Adabag, G. Peterson, and F.S. Apple Etiology of sudden death in the community: results of anatomical, metabolic, and genetic evaluation Am Heart J 159 2010 33 39
-
(2010)
Am Heart J
, vol.159
, pp. 33-39
-
-
Adabag, A.S.1
Peterson, G.2
Apple, F.S.3
-
14
-
-
0037314358
-
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation
-
DOI 10.1172/JCI200316879
-
P.C. Viswanathan, D.W. Benson, and J.R. Balser A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation J Clin Invest 111 2003 341 346 (Pubitemid 36182210)
-
(2003)
Journal of Clinical Investigation
, vol.111
, Issue.3
, pp. 341-346
-
-
Viswanathan, P.C.1
Benson, D.W.2
Balser, J.R.3
-
15
-
-
0037421629
-
A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation
-
B. Ye, C.R. Valdivia, and M.J. Ackerman A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation Physiol Genomics 12 2003 187 193 (Pubitemid 37139698)
-
(2003)
Physiological Genomics
, vol.12
, pp. 187-193
-
-
Ye, B.1
Valdivia, C.R.2
Ackerman, M.J.3
Makielski, J.C.4
-
16
-
-
33747146463
-
SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene
-
DOI 10.1161/CIRCULATIONAHA.105.601294, PII 0000301720060801000006
-
S. Poelzing, C. Forleo, and M. Samodell SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene Circulation 114 2006 368 376 (Pubitemid 44264817)
-
(2006)
Circulation
, vol.114
, Issue.5
, pp. 368-376
-
-
Poelzing, S.1
Forleo, C.2
Samodell, M.3
Dudash, L.4
Sorrentino, S.5
Anaclerio, M.6
Troccoli, R.7
Iacoviello, M.8
Romito, R.9
Guida, P.10
Chahine, M.11
Pitzalis, M.12
Deschenes, I.13
-
17
-
-
0242468387
-
QT-Interval Prolongation in Right Precordial Leads: An Additional Electrocardiographic Hallmark of Brugada Syndrome
-
DOI 10.1016/j.jacc.2003.07.005
-
M.V. Pitzalis, M. Anaclerio, and M. Iacoviello QT-interval prolongation in right precordial leads: an additional electrocardiographic hallmark of Brugada syndrome J Am Coll Cardiol 42 2003 1632 1637 (Pubitemid 37378445)
-
(2003)
Journal of the American College of Cardiology
, vol.42
, Issue.9
, pp. 1632-1637
-
-
Pitzalis, M.V.1
Anaclerio, M.2
Iacoviello, M.3
Forleo, C.4
Guida, P.5
Troccoli, R.6
Massari, F.7
Mastropasqua, F.8
Sorrentino, S.9
Manghisi, A.10
Rizzon, P.11
-
18
-
-
0343819791
-
Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes
-
DOI 10.1016/S0008-6363(00)00006-7, PII S0008636300000067
-
I. Deschenes, G. Baroudi, and M. Berthet Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes Cardiovasc Res 46 2000 55 65 (Pubitemid 30155945)
-
(2000)
Cardiovascular Research
, vol.46
, Issue.1
, pp. 55-65
-
-
Deschenes, I.1
Baroudi, G.2
Berthet, M.3
Barde, I.4
Chalvidan, T.5
Denjoy, I.6
Guicheney, P.7
Chahine, M.8
-
19
-
-
0021086246
-
A reinterpretation of mammalian sodium channel gating based on single channel recording
-
R.W. Aldrich, D.P. Corey, and C.F. Stevens A reinterpretation of mammalian sodium channel gating based on single channel recording Nature 306 1983 436 441 (Pubitemid 14235560)
-
(1983)
Nature
, vol.306
, Issue.5942
, pp. 436-441
-
-
Aldrich, R.W.1
Corey, D.P.2
Stevens, C.F.3
-
20
-
-
0022495353
-
Evidence for interactions between batrachotoxin-modified channels in hybrid neuroblastoma cells
-
K. Iwasa, G. Ehrenstein, and N. Moran Evidence for interactions between batrachotoxin-modified channels in hybrid neuroblastoma cells Biophys J 50 1986 531 537 (Pubitemid 16020505)
-
(1986)
Biophysical Journal
, vol.50
, Issue.3
, pp. 531-537
-
-
Iwasa, K.1
Ehrensttein, G.2
Moran, N.3
Jia, M.4
-
21
-
-
0026666057
-
Inward sodium current at resting potentials in single cardiac myocytes induced by the ischemic metabolite lysophosphatidylcholine
-
A.I. Undrovinas, I.A. Fleidervish, and J.C. Makielski Inward sodium current at resting potentials in single cardiac myocytes induced by the ischemic metabolite lysophosphatidylcholine Circ Res 71 1992 1231 1241
-
(1992)
Circ Res
, vol.71
, pp. 1231-1241
-
-
Undrovinas, A.I.1
Fleidervish, I.A.2
Makielski, J.C.3
-
22
-
-
22544432881
-
Brugada syndrome and fever: Genetic and molecular characterization of patients carrying SCN5A mutations
-
DOI 10.1016/j.cardiores.2005.03.024, PII S0008636305001720
-
D.I. Keller, J.S. Rougier, and J.P. Kucera Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations Cardiovasc Res 67 2005 510 519 (Pubitemid 41019558)
-
(2005)
Cardiovascular Research
, vol.67
, Issue.3
, pp. 510-519
-
-
Keller, D.I.1
Rougier, J.-S.2
Kucera, J.P.3
Benammar, N.4
Fressart, V.5
Guicheney, P.6
Madle, A.7
Fromer, M.8
Schlapfer, J.9
Abriel, H.10
-
23
-
-
37349080496
-
Cardiac sodium channel gene variants and sudden cardiac death in women
-
DOI 10.1161/CIRCULATIONAHA.107.736330
-
C.M. Albert, E.G. Nam, and E.B. Rimm Cardiac sodium channel gene variants and sudden cardiac death in women Circulation 117 2008 16 23 (Pubitemid 350301143)
-
(2008)
Circulation
, vol.117
, Issue.1
, pp. 16-23
-
-
Albert, C.M.1
Nam, E.G.2
Rimm, E.B.3
Jin, H.W.4
Hajjar, R.J.5
Hunter, D.J.6
MacRae, C.A.7
Ellinor, P.T.8
-
24
-
-
0037405812
-
A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): A role for the I-II linker in inactivation gating
-
X.H. Wehrens, T. Rossenbacker, and R.J. Jongbloed A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating Hum Mutat 21 2003 552
-
(2003)
Hum Mutat
, vol.21
, pp. 552
-
-
Wehrens, X.H.1
Rossenbacker, T.2
Jongbloed, R.J.3
-
25
-
-
0035883993
-
Implication of the C-terminal region of the α-subunit of voltage-gated sodium channels in fast inactivation
-
DOI 10.1007/s00232-001-0058-5
-
I. Deschenes, E. Trottier, and M. Chahine Implication of the C-terminal region of the alpha-subunit of voltage-gated sodium channels in fast inactivation J Membr Biol 183 2001 103 114 (Pubitemid 32900462)
-
(2001)
Journal of Membrane Biology
, vol.183
, Issue.2
, pp. 103-114
-
-
Deschenes, I.1
Trottier, E.2
Chahine, M.3
-
26
-
-
0037088663
-
+ channel C terminus. Evidence for a role of helical structures in modulation of channel inactivation
-
DOI 10.1074/jbc.M110204200
-
J.W. Cormier, I. Rivolta, and M. Tateyama Secondary structure of the human cardiac Na+ channel C terminus: evidence for a role of helical structures in modulation of channel inactivation J Biol Chem 277 2002 9233 9241 (Pubitemid 34953004)
-
(2002)
Journal of Biological Chemistry
, vol.277
, Issue.11
, pp. 9233-9241
-
-
Cormier, J.W.1
Rivolta, I.2
Tateyama, M.3
Yang, A.-S.4
Kass, R.S.5
-
27
-
-
0842326191
-
+ Channel Inactivation Gate Is a Molecular Complex: A Novel Role of the COOH-terminal Domain
-
DOI 10.1085/jgp.200308929
-
H.K. Motoike, H. Liu, and I.W. Glaaser The Na+ channel inactivation gate is a molecular complex: a novel role of the COOH-terminal domain J Gen Physiol 123 2004 155 165 (Pubitemid 38176607)
-
(2004)
Journal of General Physiology
, vol.123
, Issue.2
, pp. 155-165
-
-
Motoike, H.K.1
Liu, H.2
Glaaser, I.W.3
Yang, A.-S.4
Tateyama, M.5
Kass, R.S.6
-
28
-
-
33747644984
-
A carboxyl-terminal hydrophobic interface is critical to sodium channel function: Relevance to inherited disorders
-
DOI 10.1074/jbc.M605473200
-
I.W. Glaaser, J.R. Bankston, and H. Liu A carboxyl-terminal hydrophobic interface is critical to sodium channel function Relevance to inherited disorders J Biol Chem 281 2006 24015 24023 (Pubitemid 44274175)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.33
, pp. 24015-24023
-
-
Glaaser, I.W.1
Bankston, J.R.2
Liu, H.3
Tateyama, M.4
Kass, R.S.5
-
29
-
-
33646009667
-
Sodium channel inactivation in heart: A novel role of the carboxy-terminal domain
-
R.S. Kass Sodium channel inactivation in heart: a novel role of the carboxy-terminal domain J Cardiovasc Electrophysiol 17 Suppl 1 2006 S21 S25
-
(2006)
J Cardiovasc Electrophysiol
, vol.17
, Issue.SUPPL. 1
-
-
Kass, R.S.1
-
30
-
-
7744243863
-
Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: Implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing
-
DOI 10.1016/j.hrthm.2004.07.013, PII S1547527104004047
-
M.J. Ackerman, I. Splawski, and J.C. Makielski Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing Heart Rhythm 1 2004 600 607 (Pubitemid 39462721)
-
(2004)
Heart Rhythm
, vol.1
, Issue.5
, pp. 600-607
-
-
Ackerman, M.J.1
Splawski, I.2
Makielski, J.C.3
Tester, D.J.4
Will, M.L.5
Timothy, K.W.6
Keating, M.T.7
Jones, G.8
Chadha, M.9
Burrow, C.R.10
Stephens, J.C.11
Xu, C.12
Judson, R.13
Curran, M.E.14
-
32
-
-
72449147774
-
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
-
J.D. Kapplinger, D.J. Tester, and M. Alders An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing Heart Rhythm 7 2010 33 46
-
(2010)
Heart Rhythm
, vol.7
, pp. 33-46
-
-
Kapplinger, J.D.1
Tester, D.J.2
Alders, M.3
|