-
1
-
-
0029850036
-
Epilepsy and sudden death
-
Nashef L., Brown S. Epilepsy and sudden death. Lancet. 1996 ; 348 (9038). 1324-1325. (Pubitemid 26383767)
-
(1996)
Lancet
, vol.348
, Issue.9038
, pp. 1324-1325
-
-
Nashef, L.1
Brown, S.2
-
2
-
-
38649138348
-
Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation [1]
-
DOI 10.1111/j.1528-1167.2007.01439-2.x
-
Hindocha N., Nashef L., Elmslie F., et al. Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation. Epilepsia. 2008 ; 49 (2). 360-365. (Pubitemid 351172005)
-
(2008)
Epilepsia
, vol.49
, Issue.2
, pp. 360-365
-
-
Hindocha, N.1
Nashef, L.2
Elmslie, F.3
Birch, R.4
Zuberi, S.5
Al-Chalabi, A.6
Crotti, L.7
Schwartz, P.J.8
Makoff, A.9
-
3
-
-
0036645605
-
Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia
-
DOI 10.1161/01.CIR.0000020013.73106.D8
-
Priori SG, Napolitano C., Memmi M., et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002 ; 106 (1). 69-74. (Pubitemid 34747444)
-
(2002)
Circulation
, vol.106
, Issue.1
, pp. 69-74
-
-
Priori, S.G.1
Napolitano, C.2
Memmi, M.3
Colombi, B.4
Drago, F.5
Gasparini, M.6
DeSimone, L.7
Coltorti, F.8
Bloise, R.9
Keegan, R.10
Cruz Filho, F.E.S.11
Vignati, G.12
Benatar, A.13
DeLogu, A.14
-
4
-
-
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. 2001 ; 103 (2). 196-200. (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
-
5
-
-
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. 2001 ; 103 (4). 485-490. (Pubitemid 32116230)
-
(2001)
Circulation
, vol.103
, Issue.4
, pp. 485-490
-
-
Laitinen, P.J.1
Brown, K.M.2
Piippo, K.3
Swan, H.4
Devaney, J.M.5
Brahmbhatt, B.6
Donarum, E.A.7
Marino, M.8
Tiso, N.9
Viitasalo, M.10
Toivonen, L.11
Stephan, D.A.12
Kontula, K.13
-
6
-
-
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. 2001 ; 103 (23). 2822-2827. (Pubitemid 32550071)
-
(2001)
Circulation
, vol.103
, Issue.23
, pp. 2822-2827
-
-
Lahat, H.1
Eldar, M.2
Levy-Nissenbaum, E.3
Bahan, T.4
Friedman, E.5
Khoury, A.6
Lorber, A.7
Kastner, D.L.8
Goldman, B.9
Pras, E.10
-
7
-
-
0037964192
-
A missense mutation in the CASQ2 gene is associated with autosomal-recessive catecholamine-induced polymorphic ventricular tachycardia
-
DOI 10.1016/S1050-1738(03)00025-2, PII S1050173803000252
-
Eldar M., Pras E., Lahat H. A missense mutation in the CASQ2 gene is associated with autosomal-recessive catecholamine-induced polymorphic ventricular tachycardia. Trends Cardiovasc Med. 2003 ; 13 (4). 148-151. (Pubitemid 36547683)
-
(2003)
Trends in Cardiovascular Medicine
, vol.13
, Issue.4
, pp. 148-151
-
-
Eldar, M.1
Pras, E.2
Lahat, H.3
-
8
-
-
34250176867
-
Catecholaminergic polymorphic ventricular tachycardia
-
DOI 10.1007/s00059-007-2975-2
-
Liu N., Colombi B., Raytcheva-Buono EV, Bloisel R., Priori SG Catecholaminergic polymorphic ventricular tachycardia. Herz. 2007 ; 32 (3). 212-217. (Pubitemid 46895770)
-
(2007)
Herz
, vol.32
, Issue.3
, pp. 212-217
-
-
Liu, N.1
Colombi, B.2
Raytcheva-Buono, E.V.3
Bloise, R.4
Priori, S.G.5
-
9
-
-
0034622658
-
Sudden cardiac death with apparently normal heart
-
Chugh SS, Kelly KL, Titus JL Sudden cardiac death with apparently normal heart. Circulation. 2000 ; 102 (6). 649-654. (Pubitemid 30640665)
-
(2000)
Circulation
, vol.102
, Issue.6
, pp. 649-654
-
-
Chugh, S.S.1
Kelly, K.L.2
Titus, J.L.3
-
10
-
-
1842425821
-
Sudden death in patients without structural heart disease
-
DOI 10.1016/j.jacc.2003.10.053, PII S0735109704001007
-
Wever EF, Robles de Medina EO Sudden death in patients without structural heart disease. J Am Coll Cardiol. 2004 ; 43 (7). 1137-1144. (Pubitemid 38452586)
-
(2004)
Journal of the American College of Cardiology
, vol.43
, Issue.7
, pp. 1137-1144
-
-
Wever, E.F.D.1
De Medina, E.O.R.2
-
11
-
-
2442640094
-
Cardiac channelopathies: Its in the genes
-
Ackerman MJ Cardiac channelopathies: its in the genes. Nat Med. 2004 ; 10 (5). 463-464.
-
(2004)
Nat Med
, vol.10
, Issue.5
, pp. 463-464
-
-
Ackerman, M.J.1
-
12
-
-
0033533770
-
Molecular diagnosis of the inherited long-QT syndrome in a woman who died after near-drowning
-
Ackerman MJ, Tester DJ, Porter CJ, Edwards WD Molecular diagnosis of the inherited long-QT syndrome in a woman who died after near-drowning. N Engl J Med. 1999 ; 341 (15). 1121-1125.
-
(1999)
N Engl J Med
, vol.341
, Issue.15
, pp. 1121-1125
-
-
Ackerman, M.J.1
Tester, D.J.2
Porter, C.J.3
Edwards, W.D.4
-
13
-
-
0034603445
-
Brugada syndrome and sudden cardiac death in children
-
Priori SG, Napolitano C., Giordano U., Collisani G., Memmi M. Brugada syndrome and sudden cardiac death in children. Lancet. 2000 ; 355 (9206). 808-809. (Pubitemid 30128825)
-
(2000)
Lancet
, vol.355
, Issue.9206
, pp. 808-809
-
-
Priori, S.G.1
Napolitano, C.2
Giordano, U.3
Collisani, G.4
Memmi, M.5
-
14
-
-
2342440911
-
Postmortem molecular screening in unexplained sudden death
-
DOI 10.1016/j.jacc.2003.11.052, PII S0735109704003146
-
Chugh SS, Senashova O., Watts A., et al. Postmortem molecular screening in unexplained sudden death. J Am Coll Cardiol. 2004 ; 43 (9). 1625-1629. (Pubitemid 38561345)
-
(2004)
Journal of the American College of Cardiology
, vol.43
, Issue.9
, pp. 1625-1629
-
-
Chugh, S.S.1
Senashova, O.2
Watts, A.3
Tran, P.T.4
Zhou, Z.5
Gong, Q.6
Titus, J.L.7
Hayflick, S.J.8
-
15
-
-
33750348298
-
Postmortem long QT syndrome genetic testing for sudden unexplained death in the young
-
Tester DJ, Ackerman MJ Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol. 2007 ; 49 (2). 240-246.
-
(2007)
J Am Coll Cardiol
, vol.49
, Issue.2
, pp. 240-246
-
-
Tester, D.J.1
Ackerman, M.J.2
-
16
-
-
7544230111
-
Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: A molecular autopsy of 49 medical examiner/coroners cases
-
Tester DJ, Spoon DB, Valdivia HH, Makielski JC, Ackerman MJ Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroners cases. Mayo Clin Proc. 2004 ; 79 (11). 1380-1384.
-
(2004)
Mayo Clin Proc
, vol.79
, Issue.11
, pp. 1380-1384
-
-
Tester, D.J.1
Spoon, D.B.2
Valdivia, H.H.3
Makielski, J.C.4
Ackerman, M.J.5
-
17
-
-
0022610156
-
The congenital long QT syndrome. An unusual cause of childhood seizures
-
Horn CA, Beekman RH, Dick M. 2nd, Lacina SJ The congenital long QT syndrome. An unusual cause of childhood seizures. Am J Dis Child. 1986 ; 140 (7). 659-661.
-
(1986)
Am J Dis Child
, vol.140
, Issue.7
, pp. 659-661
-
-
Horn, C.A.1
Beekman, R.H.2
Lacina, S.J.3
-
18
-
-
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. 2009 ; 72 (3). 224-231.
-
(2009)
Neurology.
, vol.72
, Issue.3
, 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
-
19
-
-
45749100010
-
2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice
-
DOI 10.1172/JCI35346
-
Lehnart SE, Mongillo M., Bellinger A., et al. Leaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice. J Clin Invest. 2008 ; 118 (6). 2230-2245. (Pubitemid 351872341)
-
(2008)
Journal of Clinical Investigation
, vol.118
, Issue.6
, pp. 2230-2245
-
-
Lehnart, S.E.1
Mongillo, M.2
Bellinger, A.3
Lindegger, N.4
Chen, B.-X.5
Hsueh, W.6
Reiken, S.7
Wronska, A.8
Drew, L.J.9
Ward, C.W.10
Lederer, W.J.11
Kass, R.S.12
Morley, G.13
Marks, A.R.14
-
20
-
-
38649097563
-
Epilepsy and the long QT syndrome: Is there a link? - Commentary on Hindocha et al. [2]
-
DOI 10.1111/j.1528-1167.2007.01439-3.x
-
Stramba-Badiale M. Epilepsy and the long QT syndrome: is there a link?-Commentary on Hindocha et al. Epilepsia. 2008 ; 49 (2). 366. (Pubitemid 351172006)
-
(2008)
Epilepsia
, vol.49
, Issue.2
, pp. 366
-
-
Stramba-Badiale, M.1
-
21
-
-
0038240713
-
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
-
DOI 10.1002/humu.10217
-
Claes L., Ceulemans B., Audenaert D., et al. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat. 2003 ; 21 (6). 615-621. (Pubitemid 36667351)
-
(2003)
Human Mutation
, vol.21
, Issue.6
, pp. 615-621
-
-
Claes, L.1
Ceulemans, B.2
Audenaert, D.3
Smets, K.4
Lofgren, A.5
Del-Favero, J.6
Ala-Mello, S.7
Basel-Vanagaite, L.8
Plecko, B.9
Raskin, S.10
Thiry, P.11
Wolf, N.I.12
Van Broeckhoven, C.13
De Jonghe, P.14
-
22
-
-
0040075859
-
Sodium channel gene expression and epilepsy
-
Noebels JL Sodium channel gene expression and epilepsy. Novartis Found Symp. 2002 ; 241: 109-120 ; discussion 120-123, 226-232.
-
(2002)
Novartis Found Symp
, vol.241
, pp. 109-120
-
-
Noebels, J.L.1
-
23
-
-
60649106155
-
New SCN5A mutation in a SUDEP victim with idiopathic epilepsy
-
Aurlien D., Leren TP, Tauboll E., Gjerstad L. New SCN5A mutation in a SUDEP victim with idiopathic epilepsy. Seizure. 2009 ; 18 (2). 158-160.
-
(2009)
Seizure.
, vol.18
, Issue.2
, pp. 158-160
-
-
Aurlien, D.1
Leren, T.P.2
Tauboll, E.3
Gjerstad, L.4
-
24
-
-
33846885882
-
Lamotrigine in idiopathic epilepsy - Increased risk of cardiac death?
-
DOI 10.1111/j.1600-0404.2006.00730.x
-
Aurlien D., Tauboll E., Gjerstad L. Lamotrigine in idiopathic epilepsy-increased risk of cardiac death ? Acta Neurol Scand. 2007 ; 115 (3). 199-203. (Pubitemid 46219214)
-
(2007)
Acta Neurologica Scandinavica
, vol.115
, Issue.3
, pp. 199-203
-
-
Aurlien, D.1
Tauboll, E.2
Gjerstad, L.3
-
25
-
-
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
-
Ackerman MJ, Splawski I., Makielski JC, et al. 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. 2004 ; 1 (5). 600-607.
-
(2004)
Heart Rhythm
, vol.1
, Issue.5
, pp. 600-607
-
-
Ackerman, M.J.1
Splawski, I.2
Makielski, J.C.3
-
26
-
-
63849332306
-
Report of the American epilepsy society and the epilepsy foundation joint task force on sudden unexplained death in epilepsy
-
So EL, Bainbridge J., Buchhalter JR, et al. Report of the American epilepsy society and the epilepsy foundation joint task force on sudden unexplained death in epilepsy. Epilepsia. 2009 ; 50 (4). 917-922.
-
(2009)
Epilepsia.
, vol.50
, Issue.4
, pp. 917-922
-
-
So, E.L.1
Bainbridge, J.2
Buchhalter, J.R.3
|