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Volumn 57, Issue , 2016, Pages 17-25

Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention

Author keywords

Molecular autopsy; Prevention; Sudden cardiac death; Sudden infant death syndrome; Sudden unexpected death in epilepsy (SUDEP), genetics

Indexed keywords

AROUSAL; AUSTRALIAN; AUTOPSY; BREATHING; CONFERENCE PAPER; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; POPULATION GENETICS; PRIORITY JOURNAL; SUDDEN CARDIAC DEATH; SUDDEN DEATH; SUDDEN INFANT DEATH SYNDROME; TRANSLATIONAL RESEARCH; DEATH, SUDDEN, CARDIAC; EPILEPSY; GENETIC PREDISPOSITION; GENETICS; HEART ARRHYTHMIA; INFANT; PREVENTION AND CONTROL;

EID: 84954148489     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.13232     Document Type: Conference Paper
Times cited : (79)

References (117)
  • 1
    • 0031947282 scopus 로고    scopus 로고
    • Circumstances of death in sudden death in epilepsy: Interviews of bereaved relatives
    • Nashef L, Garner S, Sander JW, et al., Circumstances of death in sudden death in epilepsy: interviews of bereaved relatives. J Neurol Neurosurg Psychiatry 1998; 64: 349-352.
    • (1998) J Neurol Neurosurg Psychiatry , vol.64 , pp. 349-352
    • Nashef, L.1    Garner, S.2    Sander, J.W.3
  • 2
    • 17944381537 scopus 로고    scopus 로고
    • 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 2001; 22: 1374-1450.
    • (2001) Eur Heart J , vol.22 , pp. 1374-1450
    • Priori, S.G.1    Aliot, E.2    Blomstrom-Lundqvist, C.3
  • 3
    • 70349501483 scopus 로고    scopus 로고
    • The magnitude of sudden cardiac death in the young: A death certificate-based review in England and Wales
    • Papadakis M, Sharma S, Cox S, et al., The magnitude of sudden cardiac death in the young: a death certificate-based review in England and Wales. Europace 2009; 11: 1353-1358.
    • (2009) Europace , vol.11 , pp. 1353-1358
    • Papadakis, M.1    Sharma, S.2    Cox, S.3
  • 4
    • 34247885947 scopus 로고    scopus 로고
    • Sudden arrhythmic death syndrome: A national survey of sudden unexplained cardiac death
    • Behr ER, Casey A, Sheppard M, et al., Sudden arrhythmic death syndrome: a national survey of sudden unexplained cardiac death. Heart 2007; 93: 601-605.
    • (2007) Heart , vol.93 , pp. 601-605
    • Behr, E.R.1    Casey, A.2    Sheppard, M.3
  • 5
    • 84871628870 scopus 로고    scopus 로고
    • Unexplained sudden death, focussing on genetics and family phenotyping
    • Raju H, Behr ER,. Unexplained sudden death, focussing on genetics and family phenotyping. Curr Opin Cardiol 2013; 28: 19-25.
    • (2013) Curr Opin Cardiol , vol.28 , pp. 19-25
    • Raju, H.1    Behr, E.R.2
  • 6
    • 80051551296 scopus 로고    scopus 로고
    • Sudden death and ion channel disease: Pathophysiology and implications for management
    • Bastiaenen R, Behr ER,. Sudden death and ion channel disease: pathophysiology and implications for management. Heart 2011; 97: 1365-1372.
    • (2011) Heart , vol.97 , pp. 1365-1372
    • Bastiaenen, R.1    Behr, E.R.2
  • 7
    • 84883461171 scopus 로고    scopus 로고
    • Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
    • Bezzina CR, Barc J, Mizusawa Y, et al., Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. Nat Genet 2013; 45: 1044-1049.
    • (2013) Nat Genet , vol.45 , pp. 1044-1049
    • Bezzina, C.R.1    Barc, J.2    Mizusawa, Y.3
  • 8
    • 84865283619 scopus 로고    scopus 로고
    • Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia
    • Jamshidi Y, Nolte IM, Dalageorgou C, et al., Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia. J Am Coll Cardiol 2012; 60: 841-850.
    • (2012) J Am Coll Cardiol , vol.60 , pp. 841-850
    • Jamshidi, Y.1    Nolte, I.M.2    Dalageorgou, C.3
  • 9
    • 79959854942 scopus 로고    scopus 로고
    • Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals
    • Arking DE, Junttila MJ, Goyette P, et al., Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals. PLoS Genet 2011; 7: e1002158.
    • (2011) PLoS Genet , vol.7 , pp. e1002158
    • Arking, D.E.1    Junttila, M.J.2    Goyette, P.3
  • 10
    • 77955091644 scopus 로고    scopus 로고
    • Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction
    • Bezzina CR, Pazoki R, Bardai A, et al., Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction. Nat Genet 2010; 42: 688-691.
    • (2010) Nat Genet , vol.42 , pp. 688-691
    • Bezzina, C.R.1    Pazoki, R.2    Bardai, A.3
  • 11
    • 82255164740 scopus 로고    scopus 로고
    • Inherited cardiomyopathies
    • Raju H, Alberg C, Sagoo GS, et al., Inherited cardiomyopathies. BMJ 2011; 343: d6966.
    • (2011) BMJ , vol.343 , pp. d6966
    • Raju, H.1    Alberg, C.2    Sagoo, G.S.3
  • 12
    • 84884591407 scopus 로고    scopus 로고
    • Genetic testing for inherited cardiac disease
    • Wilde AA, Behr ER,. Genetic testing for inherited cardiac disease. Nat Rev Cardiol 2013; 10: 571-583.
    • (2013) Nat Rev Cardiol , vol.10 , pp. 571-583
    • Wilde, A.A.1    Behr, E.R.2
  • 13
    • 84555190583 scopus 로고    scopus 로고
    • Key role of the molecular autopsy in sudden unexpected death
    • Semsarian C, Hamilton RM,. Key role of the molecular autopsy in sudden unexpected death. Heart Rhythm 2012; 9: 145-150.
    • (2012) Heart Rhythm , vol.9 , pp. 145-150
    • Semsarian, C.1    Hamilton, R.M.2
  • 14
    • 84863484022 scopus 로고    scopus 로고
    • Cardiac channel molecular autopsy: Insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing
    • Tester DJ, Medeiros-Domingo A, Will ML, et al., Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing. Mayo Clin Proc 2012; 87: 524-539.
    • (2012) Mayo Clin Proc , vol.87 , pp. 524-539
    • Tester, D.J.1    Medeiros-Domingo, A.2    Will, M.L.3
  • 15
    • 0242329842 scopus 로고    scopus 로고
    • Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome
    • Behr E, Wood DA, Wright M, et al., Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome. Lancet 2003; 362: 1457-1459.
    • (2003) Lancet , vol.362 , pp. 1457-1459
    • Behr, E.1    Wood, D.A.2    Wright, M.3
  • 16
    • 46849110148 scopus 로고    scopus 로고
    • Sudden arrhythmic death syndrome: Familial evaluation identifies inheritable heart disease in the majority of families
    • Behr ER, Dalageorgou C, Christiansen M, et al., Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J 2008; 29: 1670-1680.
    • (2008) Eur Heart J , vol.29 , pp. 1670-1680
    • Behr, E.R.1    Dalageorgou, C.2    Christiansen, M.3
  • 17
    • 1942534554 scopus 로고    scopus 로고
    • Compound mutations: A common cause of severe long-QT syndrome
    • Westenskow P, Splawski I, Timothy KW, et al., 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
  • 18
    • 0033586647 scopus 로고    scopus 로고
    • Predicting sudden death in the population: The Paris Prospective Study i
    • Jouven X, Desnos M, Guerot C, et al., Predicting sudden death in the population: the Paris Prospective Study I. Circulation 1999; 99: 1978-1983.
    • (1999) Circulation , vol.99 , pp. 1978-1983
    • Jouven, X.1    Desnos, M.2    Guerot, C.3
  • 19
    • 18544383162 scopus 로고    scopus 로고
    • Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia
    • Splawski I, Timothy KW, Tateyama M, et al., Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science 2002; 297: 1333-1336.
    • (2002) Science , vol.297 , pp. 1333-1336
    • Splawski, I.1    Timothy, K.W.2    Tateyama, M.3
  • 20
    • 23844527207 scopus 로고    scopus 로고
    • Role of SCN5A Y1102 polymorphism in sudden cardiac death in blacks
    • Burke A, Creighton W, Mont E, et al., Role of SCN5A Y1102 polymorphism in sudden cardiac death in blacks. Circulation 2005; 112: 798-802.
    • (2005) Circulation , vol.112 , pp. 798-802
    • Burke, A.1    Creighton, W.2    Mont, E.3
  • 21
    • 32444436881 scopus 로고    scopus 로고
    • A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y
    • Plant LD, Bowers PN, Liu Q, et al., A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J Clin Invest 2006; 116: 430-435.
    • (2006) J Clin Invest , vol.116 , pp. 430-435
    • Plant, L.D.1    Bowers, P.N.2    Liu, Q.3
  • 22
    • 33748640974 scopus 로고    scopus 로고
    • Familial sudden death is an important risk factor for primary ventricular fibrillation: A case-control study in acute myocardial infarction patients
    • Dekker LR, Bezzina CR, Henriques JP, et al., Familial sudden death is an important risk factor for primary ventricular fibrillation: a case-control study in acute myocardial infarction patients. Circulation 2006; 114: 1140-1145.
    • (2006) Circulation , vol.114 , pp. 1140-1145
    • Dekker, L.R.1    Bezzina, C.R.2    Henriques, J.P.3
  • 23
    • 84893838296 scopus 로고    scopus 로고
    • Coxsackie and adenovirus receptor is a modifier of cardiac conduction and arrhythmia vulnerability in the setting of myocardial ischemia
    • Marsman RF, Bezzina CR, Freiberg F, et al., Coxsackie and adenovirus receptor is a modifier of cardiac conduction and arrhythmia vulnerability in the setting of myocardial ischemia. J Am Coll Cardiol 2014; 63: 549-559.
    • (2014) J Am Coll Cardiol , vol.63 , pp. 549-559
    • Marsman, R.F.1    Bezzina, C.R.2    Freiberg, F.3
  • 24
    • 84905594041 scopus 로고    scopus 로고
    • Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
    • Arking DE, Pulit SL, Crotti L, et al., Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Nat Genet 2014; 46: 826-836.
    • (2014) Nat Genet , vol.46 , pp. 826-836
    • Arking, D.E.1    Pulit, S.L.2    Crotti, L.3
  • 25
    • 70350540922 scopus 로고    scopus 로고
    • NOS1AP is a genetic modifier of the long-QT syndrome
    • Crotti L, Monti MC, 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
  • 26
    • 61849130045 scopus 로고    scopus 로고
    • Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations
    • Kao WH, Arking DE, Post W, et al., Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. Circulation 2009; 119: 940-951.
    • (2009) Circulation , vol.119 , pp. 940-951
    • Kao, W.H.1    Arking, D.E.2    Post, W.3
  • 27
    • 84872259284 scopus 로고    scopus 로고
    • Drug-induced arrhythmia: Pharmacogenomic prescribing?
    • Behr ER, Roden D,. Drug-induced arrhythmia: pharmacogenomic prescribing? Eur Heart J 2013; 34: 89-95.
    • (2013) Eur Heart J , vol.34 , pp. 89-95
    • Behr, E.R.1    Roden, D.2
  • 28
    • 84859315750 scopus 로고    scopus 로고
    • A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes
    • Kaab S, Crawford DC, Sinner MF, et al., A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes. Circ Cardiovasc Genet 2012; 5: 91-99.
    • (2012) Circ Cardiovasc Genet , vol.5 , pp. 91-99
    • Kaab, S.1    Crawford, D.C.2    Sinner, M.F.3
  • 29
    • 0032066007 scopus 로고    scopus 로고
    • Taking the "idio" out of "idiosyncratic": Predicting torsades de pointes
    • Roden DM,. Taking the "idio" out of "idiosyncratic": predicting torsades de pointes. Pacing Clin Electrophysiol 1998; 21: 1029-1034.
    • (1998) Pacing Clin Electrophysiol , vol.21 , pp. 1029-1034
    • Roden, D.M.1
  • 30
    • 0033360405 scopus 로고    scopus 로고
    • Selective localization of cardiac SCN5A sodium channels in limbic regions of rat brain
    • Hartmann HA, Colom LV, Sutherland ML, et al., Selective localization of cardiac SCN5A sodium channels in limbic regions of rat brain. Nat Neurosci 1999; 2: 593-595.
    • (1999) Nat Neurosci , vol.2 , pp. 593-595
    • Hartmann, H.A.1    Colom, L.V.2    Sutherland, M.L.3
  • 31
    • 60649106155 scopus 로고    scopus 로고
    • New SCN5A mutation in a SUDEP victim with idiopathic epilepsy
    • Aurlien D, Leren TP, Tauboll E, et al., New SCN5A mutation in a SUDEP victim with idiopathic epilepsy. Seizure 2009; 18: 158-160.
    • (2009) Seizure , vol.18 , pp. 158-160
    • Aurlien, D.1    Leren, T.P.2    Tauboll, E.3
  • 32
    • 75649094894 scopus 로고    scopus 로고
    • Neonatal seizures and long QT syndrome: A cardiocerebral channelopathy?
    • Heron SE, Hernandez M, Edwards C, et al., Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy? Epilepsia 2010; 51: 293-296.
    • (2010) Epilepsia , vol.51 , pp. 293-296
    • Heron, S.E.1    Hernandez, M.2    Edwards, C.3
  • 33
    • 77950978559 scopus 로고    scopus 로고
    • Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death
    • Goldman AM, Glasscock E, Yoo J, et al., Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death. Sci Transl Med 2009; 1: 2ra6.
    • (2009) Sci Transl Med , vol.1 , pp. 2ra6
    • Goldman, A.M.1    Glasscock, E.2    Yoo, J.3
  • 34
    • 0031456285 scopus 로고    scopus 로고
    • Sudden unexplained death in epilepsy: An intracranially monitored case
    • Bird J, Dembny KAT, Sandeman D, et al., Sudden unexplained death in epilepsy: an intracranially monitored case. Epilepsia 1997; 38 (Suppl. 11): S52-S56.
    • (1997) Epilepsia , vol.38 , pp. S52-S56
    • Bird, J.1    Dembny, K.A.T.2    Sandeman, D.3
  • 35
    • 84891668809 scopus 로고    scopus 로고
    • Prevalence and spectrum of electroencephalogram-identified epileptiform activity among patients with long QT syndrome
    • Anderson JH, Bos JM, Cascino GD, et al., Prevalence and spectrum of electroencephalogram-identified epileptiform activity among patients with long QT syndrome. Heart Rhythm 2014; 11: 53-57.
    • (2014) Heart Rhythm , vol.11 , pp. 53-57
    • Anderson, J.H.1    Bos, J.M.2    Cascino, G.D.3
  • 36
    • 68949180020 scopus 로고    scopus 로고
    • Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures
    • Keller DI, Grenier J, Christe G, et al., Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures. Can J Cardiol 2009; 25: 455-462.
    • (2009) Can J Cardiol , vol.25 , pp. 455-462
    • Keller, D.I.1    Grenier, J.2    Christe, G.3
  • 37
    • 84881184340 scopus 로고    scopus 로고
    • Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death
    • Partemi S, Cestele S, Pezzella M, et al., Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death. Epilepsia 2013; 54: e112-e116.
    • (2013) Epilepsia , vol.54 , pp. e112-e116
    • Partemi, S.1    Cestele, S.2    Pezzella, M.3
  • 38
    • 79251560652 scopus 로고    scopus 로고
    • Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases
    • Tu E, Bagnall RD, Duflou J, et al., Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases. Brain Pathol 2011; 21: 201-208.
    • (2011) Brain Pathol , vol.21 , pp. 201-208
    • Tu, E.1    Bagnall, R.D.2    Duflou, J.3
  • 39
    • 27744495444 scopus 로고    scopus 로고
    • Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients
    • Postma AV, Denjoy I, Kamblock J, et al., Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. J Med Genet 2005; 42: 863-870.
    • (2005) J Med Genet , vol.42 , pp. 863-870
    • Postma, A.V.1    Denjoy, I.2    Kamblock, J.3
  • 40
    • 38849141626 scopus 로고    scopus 로고
    • Disruption of calcium homeostasis and arrhythmogenesis induced by mutations in the cardiac ryanodine receptor and calsequestrin
    • Liu N, Priori SG,. Disruption of calcium homeostasis and arrhythmogenesis induced by mutations in the cardiac ryanodine receptor and calsequestrin. Cardiovasc Res 2008; 77: 293-301.
    • (2008) Cardiovasc Res , vol.77 , pp. 293-301
    • Liu, N.1    Priori, S.G.2
  • 41
    • 45749100010 scopus 로고    scopus 로고
    • 2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice
    • 2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice. J Clin Invest 2008; 118: 2230-2245.
    • (2008) J Clin Invest , vol.118 , pp. 2230-2245
    • Lehnart, S.E.1    Mongillo, M.2    Bellinger, A.3
  • 42
    • 77954419075 scopus 로고    scopus 로고
    • Cardiac channel molecular autopsy for sudden unexpected death in epilepsy
    • Johnson JN, Tester DJ, Bass NE, et al., Cardiac channel molecular autopsy for sudden unexpected death in epilepsy. J Child Neurol 2010; 25: 916-921.
    • (2010) J Child Neurol , vol.25 , pp. 916-921
    • Johnson, J.N.1    Tester, D.J.2    Bass, N.E.3
  • 43
    • 82455167477 scopus 로고    scopus 로고
    • Towards an integrated view of HCN channel role in epilepsy
    • Noam Y, Bernard C, Baram TZ,. Towards an integrated view of HCN channel role in epilepsy. Curr Opin Neurobiol 2011; 21: 873-879.
    • (2011) Curr Opin Neurobiol , vol.21 , pp. 873-879
    • Noam, Y.1    Bernard, C.2    Baram, T.Z.3
  • 44
    • 84873629899 scopus 로고    scopus 로고
    • HCN channels: Function and clinical implications
    • Benarroch EE,. HCN channels: function and clinical implications. Neurology 2013; 80: 304-310.
    • (2013) Neurology , vol.80 , pp. 304-310
    • Benarroch, E.E.1
  • 45
    • 0034734788 scopus 로고    scopus 로고
    • Cloning and localization of the hyperpolarization-activated cyclic nucleotide-gated channel family in rat brain
    • Monteggia LM, Eisch AJ, Tang MD, et al., Cloning and localization of the hyperpolarization-activated cyclic nucleotide-gated channel family in rat brain. Brain Res Mol Brain Res 2000; 81: 129-139.
    • (2000) Brain Res Mol Brain Res , vol.81 , pp. 129-139
    • Monteggia, L.M.1    Eisch, A.J.2    Tang, M.D.3
  • 46
    • 33748556513 scopus 로고    scopus 로고
    • Membrane resting potential of thalamocortical relay neurons is shaped by the interaction among TASK3 and HCN2 channels
    • Meuth SG, Kanyshkova T, Meuth P, et al., Membrane resting potential of thalamocortical relay neurons is shaped by the interaction among TASK3 and HCN2 channels. J Neurophysiol 2006; 96: 1517-1529.
    • (2006) J Neurophysiol , vol.96 , pp. 1517-1529
    • Meuth, S.G.1    Kanyshkova, T.2    Meuth, P.3
  • 47
    • 13444304421 scopus 로고    scopus 로고
    • Specific pattern of ionic channel gene expression associated with pacemaker activity in the mouse heart
    • Marionneau C, Couette B, Liu J, et al., Specific pattern of ionic channel gene expression associated with pacemaker activity in the mouse heart. J Physiol 2005; 562 (Pt 1): 223-234.
    • (2005) J Physiol , vol.562 , pp. 223-234
    • Marionneau, C.1    Couette, B.2    Liu, J.3
  • 48
    • 33645106815 scopus 로고    scopus 로고
    • Bradycardic and proarrhythmic properties of sinus node inhibitors
    • Stieber J, Wieland K, Stockl G, et al., Bradycardic and proarrhythmic properties of sinus node inhibitors. Mol Pharmacol 2006; 69: 1328-1337.
    • (2006) Mol Pharmacol , vol.69 , pp. 1328-1337
    • Stieber, J.1    Wieland, K.2    Stockl, G.3
  • 49
    • 0037439203 scopus 로고    scopus 로고
    • Absence epilepsy and sinus dysrhythmia in mice lacking the pacemaker channel HCN2
    • Ludwig A, Budde T, Stieber J, et al., Absence epilepsy and sinus dysrhythmia in mice lacking the pacemaker channel HCN2. EMBO J 2003; 22: 216-224.
    • (2003) EMBO J , vol.22 , pp. 216-224
    • Ludwig, A.1    Budde, T.2    Stieber, J.3
  • 50
    • 80054679391 scopus 로고    scopus 로고
    • Genetic analysis of hyperpolarization-activated cyclic nucleotide-gated cation channels in sudden unexpected death in epilepsy cases
    • Tu E, Waterhouse L, Duflou J, et al., Genetic analysis of hyperpolarization-activated cyclic nucleotide-gated cation channels in sudden unexpected death in epilepsy cases. Brain Pathol 2011; 21: 692-698.
    • (2011) Brain Pathol , vol.21 , pp. 692-698
    • Tu, E.1    Waterhouse, L.2    Duflou, J.3
  • 51
    • 77951009584 scopus 로고    scopus 로고
    • Kv1.1 potassium channel deficiency reveals brain-driven cardiac dysfunction as a candidate mechanism for sudden unexplained death in epilepsy
    • Glasscock E, Yoo JW, Chen TT, et al., Kv1.1 potassium channel deficiency reveals brain-driven cardiac dysfunction as a candidate mechanism for sudden unexplained death in epilepsy. J Neurosci 2010; 30: 5167-5175.
    • (2010) J Neurosci , vol.30 , pp. 5167-5175
    • Glasscock, E.1    Yoo, J.W.2    Chen, T.T.3
  • 52
    • 84894096005 scopus 로고    scopus 로고
    • High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile
    • Klassen TL, Bomben VC, Patel A, et al., High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile. Epilepsia 2014; 55: e6-e12.
    • (2014) Epilepsia , vol.55 , pp. e6-e12
    • Klassen, T.L.1    Bomben, V.C.2    Patel, A.3
  • 53
    • 38649138348 scopus 로고    scopus 로고
    • Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation
    • 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: 360-365.
    • (2008) Epilepsia , vol.49 , pp. 360-365
    • Hindocha, N.1    Nashef, L.2    Elmslie, F.3
  • 54
    • 79953698195 scopus 로고    scopus 로고
    • Dravet syndrome: The long-term outcome
    • Genton P, Velizarova R, Dravet C,. Dravet syndrome: the long-term outcome. Epilepsia 2011; 52 (Suppl. 2): S44-S49.
    • (2011) Epilepsia , vol.52 , pp. S44-S49
    • Genton, P.1    Velizarova, R.2    Dravet, C.3
  • 55
    • 79953684053 scopus 로고    scopus 로고
    • Dravet syndrome and parent associations: The IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief
    • Skluzacek JV, Watts KP, Parsy O, et al., Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief. Epilepsia 2011; 52 (Suppl. 2): S95-S101.
    • (2011) Epilepsia , vol.52 , pp. S95-S101
    • Skluzacek, J.V.1    Watts, K.P.2    Parsy, O.3
  • 56
    • 79958780751 scopus 로고    scopus 로고
    • Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome
    • Sakauchi M, Oguni H, Kato I, et al., Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome. Epilepsia 2011; 52: 1144-1149.
    • (2011) Epilepsia , vol.52 , pp. 1144-1149
    • Sakauchi, M.1    Oguni, H.2    Kato, I.3
  • 57
    • 79953700909 scopus 로고    scopus 로고
    • Electrical and autonomic cardiac function in patients with Dravet syndrome
    • Delogu AB, Spinelli A, Battaglia D, et al., Electrical and autonomic cardiac function in patients with Dravet syndrome. Epilepsia 2011; 52 (Suppl. 2): S55-S58.
    • (2011) Epilepsia , vol.52 , pp. S55-S58
    • Delogu, A.B.1    Spinelli, A.2    Battaglia, D.3
  • 58
    • 84878207092 scopus 로고    scopus 로고
    • QT and P wave dispersion and heart rate variability in patients with Dravet syndrome
    • Ergul Y, Ekici B, Tatli B, et al., QT and P wave dispersion and heart rate variability in patients with Dravet syndrome. Acta Neurol Belg 2013; 113: 161-166.
    • (2013) Acta Neurol Belg , vol.113 , pp. 161-166
    • Ergul, Y.1    Ekici, B.2    Tatli, B.3
  • 59
    • 84871686984 scopus 로고    scopus 로고
    • Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome
    • Cheah CS, Yu FH, Westenbroek RE, et al., Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome. Proc Natl Acad Sci U S A 2012; 109: 14646-14651.
    • (2012) Proc Natl Acad Sci U S A , vol.109 , pp. 14646-14651
    • Cheah, C.S.1    Yu, F.H.2    Westenbroek, R.E.3
  • 60
    • 84875828570 scopus 로고    scopus 로고
    • Sudden unexpected death in a mouse model of Dravet syndrome
    • Kalume F, Westenbroek RE, Cheah CS, et al., Sudden unexpected death in a mouse model of Dravet syndrome. J Clin Invest 2013; 123: 1798-1808.
    • (2013) J Clin Invest , vol.123 , pp. 1798-1808
    • Kalume, F.1    Westenbroek, R.E.2    Cheah, C.S.3
  • 61
    • 84887553241 scopus 로고    scopus 로고
    • Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome
    • Ogiwara I, Iwasato T, Miyamoto H, et al., Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome. Hum Mol Genet 2013; 22: 4784-4804.
    • (2013) Hum Mol Genet , vol.22 , pp. 4784-4804
    • Ogiwara, I.1    Iwasato, T.2    Miyamoto, H.3
  • 62
    • 84885408858 scopus 로고    scopus 로고
    • Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome
    • Auerbach DS, Jones J, Clawson BC, et al., Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome. PLoS ONE 2013; 8: e77843.
    • (2013) PLoS ONE , vol.8 , pp. e77843
    • Auerbach, D.S.1    Jones, J.2    Clawson, B.C.3
  • 63
    • 84872562558 scopus 로고    scopus 로고
    • Abnormal neuronal patterning occurs during early postnatal brain development of Scn1b-null mice and precedes hyperexcitability
    • Brackenbury WJ, Yuan Y, O'Malley HA, et al., Abnormal neuronal patterning occurs during early postnatal brain development of Scn1b-null mice and precedes hyperexcitability. Proc Natl Acad Sci U S A 2013; 110: 1089-1094.
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. 1089-1094
    • Brackenbury, W.J.1    Yuan, Y.2    O'Malley, H.A.3
  • 65
    • 33845887196 scopus 로고    scopus 로고
    • Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations
    • Scheffer IE, Harkin LA, Grinton BE, et al., Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain 2007; 130: 100-109.
    • (2007) Brain , vol.130 , pp. 100-109
    • Scheffer, I.E.1    Harkin, L.A.2    Grinton, B.E.3
  • 66
    • 84870608854 scopus 로고    scopus 로고
    • A homozygous mutation of voltage-gated sodium channel beta(I) gene SCN1B in a patient with Dravet syndrome
    • Ogiwara I, Nakayama T, Yamagata T, et al., A homozygous mutation of voltage-gated sodium channel beta(I) gene SCN1B in a patient with Dravet syndrome. Epilepsia 2012; 53: e200-e203.
    • (2012) Epilepsia , vol.53 , pp. e200-e203
    • Ogiwara, I.1    Nakayama, T.2    Yamagata, T.3
  • 67
    • 11144354817 scopus 로고    scopus 로고
    • Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture
    • Chen C, Westenbroek RE, Xu X, et al., Mice lacking sodium channel beta1 subunits display defects in neuronal excitability, sodium channel expression, and nodal architecture. J Neurosci 2004; 24: 4030-4042.
    • (2004) J Neurosci , vol.24 , pp. 4030-4042
    • Chen, C.1    Westenbroek, R.E.2    Xu, X.3
  • 68
    • 35348942828 scopus 로고    scopus 로고
    • Sodium channel Scn1b null mice exhibit prolonged QT and RR intervals
    • Lopez-Santiago LF, Meadows LS, Ernst SJ, et al., Sodium channel Scn1b null mice exhibit prolonged QT and RR intervals. J Mol Cell Cardiol 2007; 43: 636-647.
    • (2007) J Mol Cell Cardiol , vol.43 , pp. 636-647
    • Lopez-Santiago, L.F.1    Meadows, L.S.2    Ernst, S.J.3
  • 69
    • 0031443439 scopus 로고    scopus 로고
    • Epilepsy in mice deficient in the 65-kDa isoform of glutamic acid decarboxylase
    • Kash SF, Johnson RS, Tecott LH, et al., Epilepsy in mice deficient in the 65-kDa isoform of glutamic acid decarboxylase. Proc Natl Acad Sci U S A 1997; 94: 14060-14065.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 14060-14065
    • Kash, S.F.1    Johnson, R.S.2    Tecott, L.H.3
  • 70
    • 84858070732 scopus 로고    scopus 로고
    • De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP
    • Veeramah KR, O'Brien JE, Meisler MH, et al., De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet 2012; 90: 502-510.
    • (2012) Am J Hum Genet , vol.90 , pp. 502-510
    • Veeramah, K.R.1    O'Brien, J.E.2    Meisler, M.H.3
  • 71
    • 79151470856 scopus 로고    scopus 로고
    • Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus
    • Hawkins NA, Martin MS, Frankel WN,. Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. Neurobiol Dis 2011; 41: 655-660.
    • (2011) Neurobiol Dis , vol.41 , pp. 655-660
    • Hawkins, N.A.1    Martin, M.S.2    Frankel, W.N.3
  • 72
    • 84893440324 scopus 로고    scopus 로고
    • Sodium channel SCN8A (Nav1.6): Properties and de novo mutations in epileptic encephalopathy and intellectual disability
    • O'Brien JE, Meisler MH,. Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability. Front Genet 2013; 4: 213.
    • (2013) Front Genet , vol.4 , pp. 213
    • O'Brien, J.E.1    Meisler, M.H.2
  • 73
    • 84888219819 scopus 로고    scopus 로고
    • Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients
    • Weckhuysen S, Ivanovic V, Hendrickx R, et al., Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology 2013; 81: 1697-1703.
    • (2013) Neurology , vol.81 , pp. 1697-1703
    • Weckhuysen, S.1    Ivanovic, V.2    Hendrickx, R.3
  • 74
    • 0028909857 scopus 로고
    • Eating disorder and epilepsy in mice lacking 5-HT2c serotonin receptors
    • Tecott LH, Sun LM, Akana SF, et al., Eating disorder and epilepsy in mice lacking 5-HT2c serotonin receptors. Nature 1995; 374: 542-546.
    • (1995) Nature , vol.374 , pp. 542-546
    • Tecott, L.H.1    Sun, L.M.2    Akana, S.F.3
  • 75
    • 33645018161 scopus 로고    scopus 로고
    • Evidence supporting a role of serotonin in modulation of sudden death induced by seizures in DBA/2 mice
    • Tupal S, Faingold CL,. Evidence supporting a role of serotonin in modulation of sudden death induced by seizures in DBA/2 mice. Epilepsia 2006; 47: 21-26.
    • (2006) Epilepsia , vol.47 , pp. 21-26
    • Tupal, S.1    Faingold, C.L.2
  • 76
    • 78651321207 scopus 로고    scopus 로고
    • The serotonin axis: Shared mechanisms in seizures, depression, and SUDEP
    • Richerson GB, Buchanan GF,. The serotonin axis: shared mechanisms in seizures, depression, and SUDEP. Epilepsia 2011; 52 (Suppl. 1): S28-S38.
    • (2011) Epilepsia , vol.52 , pp. S28-S38
    • Richerson, G.B.1    Buchanan, G.F.2
  • 77
    • 84886285566 scopus 로고    scopus 로고
    • Sudden unexpected death in epilepsy: Fatal post-ictal respiratory and arousal mechanisms
    • Sowers LP, Massey CA, Gehlbach BK, et al., Sudden unexpected death in epilepsy: fatal post-ictal respiratory and arousal mechanisms. Respir Physiol Neurobiol 2013; 189: 315-323.
    • (2013) Respir Physiol Neurobiol , vol.189 , pp. 315-323
    • Sowers, L.P.1    Massey, C.A.2    Gehlbach, B.K.3
  • 78
    • 78649273743 scopus 로고    scopus 로고
    • Serotonin reuptake inhibitors are associated with reduced severity of ictal hypoxemia in medically refractory partial epilepsy
    • Bateman LM, Li CS, Lin TC, et al., Serotonin reuptake inhibitors are associated with reduced severity of ictal hypoxemia in medically refractory partial epilepsy. Epilepsia 2010; 51: 2211-2214.
    • (2010) Epilepsia , vol.51 , pp. 2211-2214
    • Bateman, L.M.1    Li, C.S.2    Lin, T.C.3
  • 79
    • 84900866360 scopus 로고    scopus 로고
    • Mechanisms of sudden unexpected death in epilepsy: The pathway to prevention
    • Massey CA, Sowers LP, Dlouhy BJ, et al., Mechanisms of sudden unexpected death in epilepsy: the pathway to prevention. Nat Rev Neurol 2014; 10: 271-282.
    • (2014) Nat Rev Neurol , vol.10 , pp. 271-282
    • Massey, C.A.1    Sowers, L.P.2    Dlouhy, B.J.3
  • 80
    • 69049111812 scopus 로고    scopus 로고
    • Transgenic mice lacking serotonin neurons have severe apnea and high mortality during development
    • Hodges MR, Wehner M, Aungst J, et al., Transgenic mice lacking serotonin neurons have severe apnea and high mortality during development. J Neurosci 2009; 29: 10341-10349.
    • (2009) J Neurosci , vol.29 , pp. 10341-10349
    • Hodges, M.R.1    Wehner, M.2    Aungst, J.3
  • 81
    • 75849137701 scopus 로고    scopus 로고
    • Abnormal serotonin receptor expression in DBA/2 mice associated with susceptibility to sudden death due to respiratory arrest
    • Uteshev VV, Tupal S, Mhaskar Y, et al., Abnormal serotonin receptor expression in DBA/2 mice associated with susceptibility to sudden death due to respiratory arrest. Epilepsy Res 2010; 88: 183-188.
    • (2010) Epilepsy Res , vol.88 , pp. 183-188
    • Uteshev, V.V.1    Tupal, S.2    Mhaskar, Y.3
  • 82
    • 84877834105 scopus 로고    scopus 로고
    • Effects of age, sex, and sertraline administration on seizure-induced respiratory arrest in the DBA/1 mouse model of sudden unexpected death in epilepsy (SUDEP)
    • Faingold CL, Randall M,. Effects of age, sex, and sertraline administration on seizure-induced respiratory arrest in the DBA/1 mouse model of sudden unexpected death in epilepsy (SUDEP). Epilepsy Behav 2013; 28: 78-82.
    • (2013) Epilepsy Behav , vol.28 , pp. 78-82
    • Faingold, C.L.1    Randall, M.2
  • 83
    • 80053383443 scopus 로고    scopus 로고
    • Prevention of seizure-induced sudden death in a chronic SUDEP model by semichronic administration of a selective serotonin reuptake inhibitor
    • Faingold CL, Tupal S, Randall M,. Prevention of seizure-induced sudden death in a chronic SUDEP model by semichronic administration of a selective serotonin reuptake inhibitor. Epilepsy Behav 2011; 22: 186-190.
    • (2011) Epilepsy Behav , vol.22 , pp. 186-190
    • Faingold, C.L.1    Tupal, S.2    Randall, M.3
  • 84
    • 84875295625 scopus 로고    scopus 로고
    • Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations
    • Mullally J, Goldenberg I, Moss AJ, 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
  • 85
    • 84875727028 scopus 로고    scopus 로고
    • A case of long QT syndrome with triple gene abnormalities: Digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1
    • Yoshikane Y, Yoshinaga M, Hamamoto K, et al., A case of long QT syndrome with triple gene abnormalities: digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1. Heart Rhythm 2013; 10: 600-603.
    • (2013) Heart Rhythm , vol.10 , pp. 600-603
    • Yoshikane, Y.1    Yoshinaga, M.2    Hamamoto, K.3
  • 86
    • 84879800606 scopus 로고    scopus 로고
    • Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
    • Veeramah KR, Johnstone L, Karafet TM, et al., Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia 2013; 54: 1270-1281.
    • (2013) Epilepsia , vol.54 , pp. 1270-1281
    • Veeramah, K.R.1    Johnstone, L.2    Karafet, T.M.3
  • 87
    • 84884130368 scopus 로고    scopus 로고
    • De novo mutations in epileptic encephalopathies
    • Epi4K Consortium; Epilepsy Phenome/Genome Project.
    • Epi4K Consortium; Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature 2013; 501: 217-221.
    • (2013) Nature , vol.501 , pp. 217-221
  • 88
    • 84879684377 scopus 로고    scopus 로고
    • Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
    • Carvill GL, Heavin SB, Yendle SC, et al., Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet 2013; 45: 825-830.
    • (2013) Nat Genet , vol.45 , pp. 825-830
    • Carvill, G.L.1    Heavin, S.B.2    Yendle, S.C.3
  • 89
    • 36448957653 scopus 로고    scopus 로고
    • Masking epilepsy by combining two epilepsy genes
    • Glasscock E, Qian J, Yoo JW, et al., Masking epilepsy by combining two epilepsy genes. Nat Neurosci 2007; 10: 1554-1558.
    • (2007) Nat Neurosci , vol.10 , pp. 1554-1558
    • Glasscock, E.1    Qian, J.2    Yoo, J.W.3
  • 90
    • 84872729419 scopus 로고    scopus 로고
    • Tau loss attenuates neuronal network hyperexcitability in mouse and Drosophila genetic models of epilepsy
    • Holth JK, Bomben VC, Reed JG, et al., Tau loss attenuates neuronal network hyperexcitability in mouse and Drosophila genetic models of epilepsy. J Neurosci 2013; 33: 1651-1659.
    • (2013) J Neurosci , vol.33 , pp. 1651-1659
    • Holth, J.K.1    Bomben, V.C.2    Reed, J.G.3
  • 91
    • 0032831603 scopus 로고    scopus 로고
    • Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects
    • Swan H, Viitasalo M, Piippo K, et al., Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects. J Am Coll Cardiol 1999; 34: 823-829.
    • (1999) J Am Coll Cardiol , vol.34 , pp. 823-829
    • Swan, H.1    Viitasalo, M.2    Piippo, K.3
  • 92
    • 2442657712 scopus 로고    scopus 로고
    • Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland
    • Fodstad H, Swan H, Laitinen P, et al., Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland. Ann Med 2004; 36 (Suppl. 1): 53-63.
    • (2004) Ann Med , vol.36 , pp. 53-63
    • Fodstad, H.1    Swan, H.2    Laitinen, P.3
  • 93
    • 0034911966 scopus 로고    scopus 로고
    • Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: Implications for acquired and congenital long Q-T syndrome
    • Larsen LA, Andersen PS, Kanters J, et al., Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome. Clin Chem 2001; 47: 1390-1395.
    • (2001) Clin Chem , vol.47 , pp. 1390-1395
    • Larsen, L.A.1    Andersen, P.S.2    Kanters, J.3
  • 94
    • 33750348298 scopus 로고    scopus 로고
    • 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: 240-246.
    • (2007) J Am Coll Cardiol , vol.49 , pp. 240-246
    • Tester, D.J.1    Ackerman, M.J.2
  • 95
    • 68949209933 scopus 로고    scopus 로고
    • Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test
    • Kapplinger JD, Tester DJ, Salisbury BA, et al., Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm 2009; 6: 1297-1303.
    • (2009) Heart Rhythm , vol.6 , pp. 1297-1303
    • Kapplinger, J.D.1    Tester, D.J.2    Salisbury, B.A.3
  • 96
    • 37349080496 scopus 로고    scopus 로고
    • Cardiac sodium channel gene variants and sudden cardiac death in women
    • Albert CM, Nam EG, Rimm EB, et al., Cardiac sodium channel gene variants and sudden cardiac death in women. Circulation 2008; 117: 16-23.
    • (2008) Circulation , vol.117 , pp. 16-23
    • Albert, C.M.1    Nam, E.G.2    Rimm, E.B.3
  • 97
    • 68249083230 scopus 로고    scopus 로고
    • Systematic assessment of patients with unexplained cardiac arrest: Cardiac Arrest Survivors with Preserved Ejection Fraction Registry (CASPER)
    • Krahn AD, Healey JS, Chauhan V, et al., Systematic assessment of patients with unexplained cardiac arrest: cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER). Circulation 2009; 120: 278-285.
    • (2009) Circulation , vol.120 , pp. 278-285
    • Krahn, A.D.1    Healey, J.S.2    Chauhan, V.3
  • 98
    • 0034730085 scopus 로고    scopus 로고
    • The elusive link between LQT3 and Brugada syndrome: The role of flecainide challenge
    • Priori SG, Napolitano C, Schwartz PJ, et al., 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
  • 99
    • 79960867817 scopus 로고    scopus 로고
    • 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 MJ, Priori SG, 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
  • 100
    • 0034027743 scopus 로고    scopus 로고
    • Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population
    • Iwasa H, Itoh T, Nagai R, et al., Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population. J Hum Genet 2000; 45: 182-183.
    • (2000) J Hum Genet , vol.45 , pp. 182-183
    • Iwasa, H.1    Itoh, T.2    Nagai, R.3
  • 101
    • 84896921083 scopus 로고    scopus 로고
    • Exome analysis based molecular autopsy in cases of sudden unexplained death in the young
    • Bagnall RD, Das KJ, Duflou J, et al., Exome analysis based molecular autopsy in cases of sudden unexplained death in the young. Heart Rhythm 2014; 11: 655-662.
    • (2014) Heart Rhythm , vol.11 , pp. 655-662
    • Bagnall, R.D.1    Das, K.J.2    Duflou, J.3
  • 102
    • 84942076987 scopus 로고    scopus 로고
    • Genetic determinants of common epilepsies: A meta-analysis of genome-wide association studies
    • International League Against Epilepsy Consortium on Complex Epilepsies. Electronic address e-auea.
    • International League Against Epilepsy Consortium on Complex Epilepsies. Electronic address e-auea. Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. Lancet Neurol 2014; 13: 893-903.
    • (2014) Lancet Neurol , vol.13 , pp. 893-903
  • 103
    • 85027953524 scopus 로고    scopus 로고
    • Our epilepsy story: SUDEP aware
    • Jeffs TC, Donner EJ,. Our epilepsy story: SUDEP aware. Epilepsia 2015; 56: 9-11.
    • (2015) Epilepsia , vol.56 , pp. 9-11
    • Jeffs, T.C.1    Donner, E.J.2
  • 104
    • 84865070353 scopus 로고    scopus 로고
    • Comparative analytical utility of DNA derived from alternative human specimens for molecular autopsy and diagnostics
    • Klassen TL, von Ruden EL, Drabek J, et al., Comparative analytical utility of DNA derived from alternative human specimens for molecular autopsy and diagnostics. J Mol Diagn 2012; 14: 451-457.
    • (2012) J Mol Diagn , vol.14 , pp. 451-457
    • Klassen, T.L.1    Von Ruden, E.L.2    Drabek, J.3
  • 105
    • 84884882523 scopus 로고    scopus 로고
    • The lifelong course of chronic epilepsy: The Chalfont experience
    • Novy J, Belluzzo M, Caboclo LO, et al., The lifelong course of chronic epilepsy: the Chalfont experience. Brain 2013; 136: 3187-3199.
    • (2013) Brain , vol.136 , pp. 3187-3199
    • Novy, J.1    Belluzzo, M.2    Caboclo, L.O.3
  • 106
    • 34248592512 scopus 로고    scopus 로고
    • Risk factors in sudden death in epilepsy (SUDEP): The quest for mechanisms
    • Nashef L, Hindocha N, Makoff A,. Risk factors in sudden death in epilepsy (SUDEP): the quest for mechanisms. Epilepsia 2007; 48: 859-871.
    • (2007) Epilepsia , vol.48 , pp. 859-871
    • Nashef, L.1    Hindocha, N.2    Makoff, A.3
  • 107
    • 79952715853 scopus 로고    scopus 로고
    • Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice
    • Tester DJ, Ackerman MJ,. Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice. Circulation 2011; 123: 1021-1037.
    • (2011) Circulation , vol.123 , pp. 1021-1037
    • Tester, D.J.1    Ackerman, M.J.2
  • 108
    • 0033911185 scopus 로고    scopus 로고
    • Misdiagnosis of epilepsy: Many seizure-like attacks have a cardiovascular cause
    • Zaidi A, Clough P, Cooper P, et al., Misdiagnosis of epilepsy: many seizure-like attacks have a cardiovascular cause. J Am Coll Cardiol 2000; 36: 181-184.
    • (2000) J Am Coll Cardiol , vol.36 , pp. 181-184
    • Zaidi, A.1    Clough, P.2    Cooper, P.3
  • 109
    • 21144457928 scopus 로고    scopus 로고
    • Inaccurate electrocardiographic interpretation of long QT: The majority of physicians cannot recognize a long QT when they see one
    • Viskin S, Rosovski U, Sands AJ, et al., Inaccurate electrocardiographic interpretation of long QT: the majority of physicians cannot recognize a long QT when they see one. Heart Rhythm 2005; 2: 569-574.
    • (2005) Heart Rhythm , vol.2 , pp. 569-574
    • Viskin, S.1    Rosovski, U.2    Sands, A.J.3
  • 110
    • 84877627966 scopus 로고    scopus 로고
    • Tilt testing is more cost-effective than implantable loop recorder monitoring as a means of directing pacing therapy in people with recurrent episodes of suspected vasovagal syncope that affect their quality of life or present a high risk of injury
    • Davis S, Westby M, Petkar S, et al., Tilt testing is more cost-effective than implantable loop recorder monitoring as a means of directing pacing therapy in people with recurrent episodes of suspected vasovagal syncope that affect their quality of life or present a high risk of injury. Heart 2013; 99: 805-810.
    • (2013) Heart , vol.99 , pp. 805-810
    • Davis, S.1    Westby, M.2    Petkar, S.3
  • 112
    • 0000679520 scopus 로고
    • Cessation of the pulse during the onset of epileptic fits,: With remarks on the mechanism of fits
    • Russell AE,. Cessation of the pulse during the onset of epileptic fits,: with remarks on the mechanism of fits. Lancet 1906; 168: 152-154.
    • (1906) Lancet , vol.168 , pp. 152-154
    • Russell, A.E.1
  • 113
    • 10944259169 scopus 로고    scopus 로고
    • Cardiac arrhythmias in focal epilepsy: A prospective long-term study
    • Rugg-Gunn FJ, Simister RJ, Squirrell M, et al., Cardiac arrhythmias in focal epilepsy: a prospective long-term study. Lancet 2004; 364: 2212-2219.
    • (2004) Lancet , vol.364 , pp. 2212-2219
    • Rugg-Gunn, F.J.1    Simister, R.J.2    Squirrell, M.3
  • 114
    • 0029937749 scopus 로고    scopus 로고
    • Apnoea and bradycardia during epileptic seizures: Relation to sudden death in epilepsy
    • Nashef L, Walker F, Allen P, et al., Apnoea and bradycardia during epileptic seizures: relation to sudden death in epilepsy. J Neurol Neurosurg Psychiatry 1996; 60: 297-300.
    • (1996) J Neurol Neurosurg Psychiatry , vol.60 , pp. 297-300
    • Nashef, L.1    Walker, F.2    Allen, P.3
  • 115
    • 34547656021 scopus 로고    scopus 로고
    • Heart rate variability in patients with untreated epilepsy
    • Persson H, Ericson M, Tomson T,. Heart rate variability in patients with untreated epilepsy. Seizure 2007; 16: 504-508.
    • (2007) Seizure , vol.16 , pp. 504-508
    • Persson, H.1    Ericson, M.2    Tomson, T.3
  • 116
    • 0033986549 scopus 로고    scopus 로고
    • Interictal cardiovascular autonomic responses in patients with temporal lobe epilepsy
    • Ansakorpi H, Korpelainen JT, Suominen K, et al., Interictal cardiovascular autonomic responses in patients with temporal lobe epilepsy. Epilepsia 2000; 41: 42-47.
    • (2000) Epilepsia , vol.41 , pp. 42-47
    • Ansakorpi, H.1    Korpelainen, J.T.2    Suominen, K.3
  • 117
    • 34548129674 scopus 로고    scopus 로고
    • Changes in autonomic cardiac control in patients with epilepsy after discontinuation of antiepileptic drugs: A randomized controlled withdrawal study
    • Lossius MI, Erikssen JE, Mowinckel P, et al., Changes in autonomic cardiac control in patients with epilepsy after discontinuation of antiepileptic drugs: a randomized controlled withdrawal study. Eur J Neurol 2007; 14: 1022-1028.
    • (2007) Eur J Neurol , vol.14 , pp. 1022-1028
    • Lossius, M.I.1    Erikssen, J.E.2    Mowinckel, P.3


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