메뉴 건너뛰기




Volumn 79, Issue 4, 2016, Pages 522-534

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

(16)  Bagnall, Richard D a,b   Crompton, Douglas E c,d   Petrovski, Slavé e,f   Lam, Lien a,b   Cutmore, Carina a,b   Garry, Sarah I d   Sadleir, Lynette G f   Dibbens, Leanne M g   Cairns, Anita h   Kivity, Sara i   Afawi, Zaid j   Regan, Brigid M d   Duflou, Johan b,k   Berkovic, Samuel F d   Scheffer, Ingrid E d,l,m   Semsarian, Christopher a,b,n  


Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; BREATHING DISORDER; CHILD; DOMINANT GENE; EPILEPSY; ETIOLOGY; EXOME; FEMALE; GENETICS; HEART ARRHYTHMIA; HUMAN; INFANT; LONG QT SYNDROME; MALE; MIDDLE AGED; MUTATION; PRESCHOOL CHILD; SUDDEN DEATH; YOUNG ADULT;

EID: 84971673251     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24596     Document Type: Article
Times cited : (198)

References (61)
  • 1
    • 79551706978 scopus 로고    scopus 로고
    • The long-term risk of premature mortality in people with epilepsy
    • Neligan A, Bell GS, Johnson AL, et al., The long-term risk of premature mortality in people with epilepsy. Brain 2011; 134 (Pt 2): 388-395.
    • (2011) Brain , vol.134 , pp. 388-395
    • Neligan, A.1    Bell, G.S.2    Johnson, A.L.3
  • 2
    • 84856356730 scopus 로고    scopus 로고
    • Unifying the definitions of sudden unexpected death in epilepsy
    • Nashef L, So EL, Ryvlin P, Tomson T,. Unifying the definitions of sudden unexpected death in epilepsy. Epilepsia 2012; 53: 227-233.
    • (2012) Epilepsia , vol.53 , pp. 227-233
    • Nashef, L.1    So, E.L.2    Ryvlin, P.3    Tomson, T.4
  • 3
    • 78650598317 scopus 로고    scopus 로고
    • Long-term mortality in childhood-onset epilepsy
    • Sillanpaa M, Shinnar S,. Long-term mortality in childhood-onset epilepsy. N Engl J Med 2010; 363: 2522-2529.
    • (2010) N Engl J Med , vol.363 , pp. 2522-2529
    • Sillanpaa, M.1    Shinnar, S.2
  • 4
    • 84911966458 scopus 로고    scopus 로고
    • Sudden unexpected death in epilepsy: Assessing the public health burden
    • Thurman DJ, Hesdorffer DC, French JA,. Sudden unexpected death in epilepsy: assessing the public health burden. Epilepsia 2014; 55: 1479-1485.
    • (2014) Epilepsia , vol.55 , pp. 1479-1485
    • Thurman, D.J.1    Hesdorffer, D.C.2    French, J.A.3
  • 5
    • 79958824035 scopus 로고    scopus 로고
    • Combined analysis of risk factors for SUDEP
    • Hesdorffer DC, Tomson T, Benn E, et al., Combined analysis of risk factors for SUDEP. Epilepsia 2011; 52: 1150-1159.
    • (2011) Epilepsia , vol.52 , pp. 1150-1159
    • Hesdorffer, D.C.1    Tomson, T.2    Benn, E.3
  • 6
    • 84860120316 scopus 로고    scopus 로고
    • Sudden cardiac death and genetic ion channelopathies: Long QT, Brugada, short QT, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation
    • Napolitano C, Bloise R, Monteforte N, Priori SG,. Sudden cardiac death and genetic ion channelopathies: long QT, Brugada, short QT, catecholaminergic polymorphic ventricular tachycardia, and idiopathic ventricular fibrillation. Circulation 2012; 125: 2027-2034.
    • (2012) Circulation , vol.125 , pp. 2027-2034
    • Napolitano, C.1    Bloise, R.2    Monteforte, N.3    Priori, S.G.4
  • 7
    • 79952146247 scopus 로고    scopus 로고
    • Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds
    • Skinner JR, Crawford J, Smith W, et al., Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds. Heart Rhythm 2011; 8: 412-419.
    • (2011) Heart Rhythm , vol.8 , pp. 412-419
    • Skinner, J.R.1    Crawford, J.2    Smith, W.3
  • 8
    • 80255132694 scopus 로고    scopus 로고
    • Seizure-related cardiac repolarization abnormalities are associated with ictal hypoxemia
    • Seyal M, Pascual F, Lee CY, Li CS, Bateman LM,. Seizure-related cardiac repolarization abnormalities are associated with ictal hypoxemia. Epilepsia 2011; 52: 2105-2111.
    • (2011) Epilepsia , vol.52 , pp. 2105-2111
    • Seyal, M.1    Pascual, F.2    Lee, C.Y.3    Li, C.S.4    Bateman, L.M.5
  • 9
    • 76349116683 scopus 로고    scopus 로고
    • Enhanced QT shortening and persistent tachycardia after generalized seizures
    • Surges R, Scott CA, Walker MC,. Enhanced QT shortening and persistent tachycardia after generalized seizures. Neurology 2010; 74: 421-426.
    • (2010) Neurology , vol.74 , pp. 421-426
    • Surges, R.1    Scott, C.A.2    Walker, M.C.3
  • 10
    • 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
  • 11
    • 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, Semsarian C,. 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    Semsarian, C.4
  • 12
    • 84884155544 scopus 로고    scopus 로고
    • Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): A retrospective study
    • Ryvlin P, Nashef L, Lhatoo SD, et al., Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): a retrospective study. Lancet Neurol 2013; 12: 966-977.
    • (2013) Lancet Neurol , vol.12 , pp. 966-977
    • Ryvlin, P.1    Nashef, L.2    Lhatoo, S.D.3
  • 13
    • 84890167938 scopus 로고    scopus 로고
    • Dravet syndrome (severe myoclonic epilepsy in infancy)
    • Bureau M. Genton P. Dravet C. et al., eds. 5th ed. Montrouge, France: John Libbey Eurotext.
    • Dravet C, Bureau M, Oguni H, Cokar O, Guerrini R,. Dravet syndrome (severe myoclonic epilepsy in infancy). In:, Bureau M, Genton P, Dravet C, et al., eds. Epileptic Syndromes in Infancy, Childhood and Adolescence, 5th ed. Montrouge, France: John Libbey Eurotext: 2012: 125-156.
    • (2012) Epileptic Syndromes in Infancy, Childhood and Adolescence , pp. 125-156
    • Dravet, C.1    Bureau, M.2    Oguni, H.3    Cokar, O.4    Guerrini, R.5
  • 14
    • 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, Klassen TL, Noebels JL,. 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    Klassen, T.L.4    Noebels, J.L.5
  • 15
    • 84922475507 scopus 로고    scopus 로고
    • Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy
    • Wagnon JL, Korn MJ, Parent R, et al., Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy. Hum Mol Genet 2015; 24: 506-515.
    • (2015) Hum Mol Genet , vol.24 , pp. 506-515
    • Wagnon, J.L.1    Korn, M.J.2    Parent, R.3
  • 16
    • 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
  • 17
    • 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
  • 18
    • 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, Semsarian C,. 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    Semsarian, C.4
  • 19
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei IA, Schmidt S, Peshkin L, et al., A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248-249.
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 20
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC,. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073-1081.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 21
    • 84897456458 scopus 로고    scopus 로고
    • MutationTaster2: Mutation prediction for the deep-sequencing age
    • Schwarz JM, Cooper DN, Schuelke M, Seelow D,. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 2014; 11: 361-362.
    • (2014) Nat Methods , vol.11 , pp. 361-362
    • Schwarz, J.M.1    Cooper, D.N.2    Schuelke, M.3    Seelow, D.4
  • 22
    • 84945749129 scopus 로고    scopus 로고
    • Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
    • Cirulli ET, Lasseigne BN, Petrovski S, et al., Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science 2015; 347: 1436-1441.
    • (2015) Science , vol.347 , pp. 1436-1441
    • Cirulli, E.T.1    Lasseigne, B.N.2    Petrovski, S.3
  • 23
    • 33746512512 scopus 로고    scopus 로고
    • Principal components analysis corrects for stratification in genome-wide association studies
    • Price AL, Patterson NJ, Plenge RM, et al., Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006; 38: 904-909.
    • (2006) Nat Genet , vol.38 , pp. 904-909
    • Price, A.L.1    Patterson, N.J.2    Plenge, R.M.3
  • 24
    • 85061664444 scopus 로고    scopus 로고
    • Exome Aggregation Consortium (ExAC). Cambridge, MA: Exome Aggregation Consortium (ExAC). Available at: [Nov
    • Exome Aggregation Consortium (ExAC). ExAC Browser (Beta): Exome Aggregation Consortium. Cambridge, MA: Exome Aggregation Consortium (ExAC). Available at: http://exac.broadinstitute.org [Nov, 2014].
    • (2014) ExAC Browser (Beta): Exome Aggregation Consortium
  • 25
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • Adzhubei IA, Schmidt S, Peshkin L, et al., A method and server for predicting damaging missense mutations. Nature Methods 2010; 7: 248-249.
    • (2010) Nature Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 26
    • 84861988033 scopus 로고    scopus 로고
    • Mitochondrial genomes gleaned from human whole-exome sequencing
    • Picardi E, Pesole G,. Mitochondrial genomes gleaned from human whole-exome sequencing. Nat Methods 2012; 9: 523-524.
    • (2012) Nat Methods , vol.9 , pp. 523-524
    • Picardi, E.1    Pesole, G.2
  • 27
    • 84877886388 scopus 로고    scopus 로고
    • An update to MitoTool: Using a new scoring system for faster mtDNA haplogroup determination
    • Fan L, Yao YG,. An update to MitoTool: using a new scoring system for faster mtDNA haplogroup determination. Mitochondrion 2013; 13: 360-363.
    • (2013) Mitochondrion , vol.13 , pp. 360-363
    • Fan, L.1    Yao, Y.G.2
  • 28
    • 84867280219 scopus 로고    scopus 로고
    • Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth
    • Fromer M, Moran JL, Chambert K, et al., Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am J Hum Genet 2012; 91: 597-607.
    • (2012) Am J Hum Genet , vol.91 , pp. 597-607
    • Fromer, M.1    Moran, J.L.2    Chambert, K.3
  • 29
    • 54049144653 scopus 로고    scopus 로고
    • Copy-number variations associated with neuropsychiatric conditions
    • Cook EH, Jr., Scherer SW,. Copy-number variations associated with neuropsychiatric conditions. Nature 2008; 455: 919-923.
    • (2008) Nature , vol.455 , pp. 919-923
    • Cook, E.H.1    Scherer, S.W.2
  • 30
    • 74249088463 scopus 로고    scopus 로고
    • Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
    • de Kovel CG, Trucks H, Helbig I, et al., Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 2010; 133 (Pt 1): 23-32.
    • (2010) Brain , vol.133 , pp. 23-32
    • De Kovel, C.G.1    Trucks, H.2    Helbig, I.3
  • 31
    • 59149096726 scopus 로고    scopus 로고
    • 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
    • Helbig I, Mefford HC, Sharp AJ, et al., 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 2009; 41: 160-162.
    • (2009) Nat Genet , vol.41 , pp. 160-162
    • Helbig, I.1    Mefford, H.C.2    Sharp, A.J.3
  • 32
    • 84911395683 scopus 로고    scopus 로고
    • Et al.; 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy
    • Reinthaler EM, Lal D, Lebon S, et al.; 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Hum Mol Genet 2014; 23: 6069-6080.
    • (2014) Hum Mol Genet , vol.23 , pp. 6069-6080
    • Reinthaler, E.M.1    Lal, D.2    Lebon, S.3
  • 33
    • 70349989500 scopus 로고    scopus 로고
    • Genetic variation in NOS1AP is associated with sudden cardiac death: Evidence from the Rotterdam Study
    • Eijgelsheim M, Newton-Cheh C, Aarnoudse AL, et al., Genetic variation in NOS1AP is associated with sudden cardiac death: evidence from the Rotterdam Study. Hum Mol Genet 2009; 18: 4213-4218.
    • (2009) Hum Mol Genet , vol.18 , pp. 4213-4218
    • Eijgelsheim, M.1    Newton-Cheh, C.2    Aarnoudse, A.L.3
  • 34
    • 0035693730 scopus 로고    scopus 로고
    • Linkage and mutation analysis in two Taiwanese families with long QT syndrome
    • Ko YL, Tai DY, Chen SA, et al., Linkage and mutation analysis in two Taiwanese families with long QT syndrome. J Formos Med Assoc 2001; 100: 767-771.
    • (2001) J Formos Med Assoc , vol.100 , pp. 767-771
    • Ko, Y.L.1    Tai, D.Y.2    Chen, S.A.3
  • 35
    • 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
  • 36
    • 72449147774 scopus 로고    scopus 로고
    • An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
    • Kapplinger JD, Tester DJ, Alders M, et al., An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm 2010; 7: 33-46.
    • (2010) Heart Rhythm , vol.7 , pp. 33-46
    • Kapplinger, J.D.1    Tester, D.J.2    Alders, M.3
  • 37
    • 84878352545 scopus 로고    scopus 로고
    • Mutations in DEPDC5 cause familial focal epilepsy with variable foci
    • Dibbens LM, de Vries B, Donatello S, et al., Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet 2013; 45: 546-551.
    • (2013) Nat Genet , vol.45 , pp. 546-551
    • Dibbens, L.M.1    De Vries, B.2    Donatello, S.3
  • 38
    • 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
  • 39
    • 33947123754 scopus 로고    scopus 로고
    • The spectrum of SCN1A-related infantile epileptic encephalopathies
    • Harkin LA, McMahon JM, Iona X, et al., The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 2007; 130 (Pt 3): 843-852.
    • (2007) Brain , vol.130 , pp. 843-852
    • Harkin, L.A.1    McMahon, J.M.2    Iona, X.3
  • 40
    • 0035859769 scopus 로고    scopus 로고
    • LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ
    • Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB,. LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. Neurology 2001; 57: 416-422.
    • (2001) Neurology , vol.57 , pp. 416-422
    • Leventer, R.J.1    Cardoso, C.2    Ledbetter, D.H.3    Dobyns, W.B.4
  • 41
    • 84255175953 scopus 로고    scopus 로고
    • Rare copy number variants are an important cause of epileptic encephalopathies
    • Mefford HC, Yendle SC, Hsu C, et al., Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol 2011; 70: 974-985.
    • (2011) Ann Neurol , vol.70 , pp. 974-985
    • Mefford, H.C.1    Yendle, S.C.2    Hsu, C.3
  • 42
    • 84871219247 scopus 로고    scopus 로고
    • Cardiac involvement in mitochondrial DNA disease: Clinical spectrum, diagnosis, and management
    • Bates MG, Bourke JP, Giordano C, et al., Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management. Eur Heart J 2012; 33: 3023-3033.
    • (2012) Eur Heart J , vol.33 , pp. 3023-3033
    • Bates, M.G.1    Bourke, J.P.2    Giordano, C.3
  • 44
    • 70449359365 scopus 로고    scopus 로고
    • Genetic testing for long-QT syndrome: Distinguishing pathogenic mutations from benign variants
    • Kapa S, Tester DJ, Salisbury BA, et al., Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation 2009; 120: 1752-1760.
    • (2009) Circulation , vol.120 , pp. 1752-1760
    • Kapa, S.1    Tester, D.J.2    Salisbury, B.A.3
  • 45
    • 66749174141 scopus 로고    scopus 로고
    • A primate-specific, brain isoform of KCNH2 affects cortical physiology, cognition, neuronal repolarization and risk of schizophrenia
    • Huffaker SJ, Chen J, Nicodemus KK, et al., A primate-specific, brain isoform of KCNH2 affects cortical physiology, cognition, neuronal repolarization and risk of schizophrenia. Nat Med 2009; 15: 509-518.
    • (2009) Nat Med , vol.15 , pp. 509-518
    • Huffaker, S.J.1    Chen, J.2    Nicodemus, K.K.3
  • 46
    • 0034731647 scopus 로고    scopus 로고
    • The cardiac sodium channel mRNA is expressed in the developing and adult rat and human brain
    • Donahue LM, Coates PW, Lee VH, et al., The cardiac sodium channel mRNA is expressed in the developing and adult rat and human brain. Brain Res 2000; 887: 335-343.
    • (2000) Brain Res , vol.887 , pp. 335-343
    • Donahue, L.M.1    Coates, P.W.2    Lee, V.H.3
  • 47
    • 84938343492 scopus 로고    scopus 로고
    • Sudden cardiac death in the young: The molecular autopsy and a practical approach to surviving relatives
    • Semsarian C, Ingles J, Wilde AA,. Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives. Eur Heart J 2015; 36: 1290-1296.
    • (2015) Eur Heart J , vol.36 , pp. 1290-1296
    • Semsarian, C.1    Ingles, J.2    Wilde, A.A.3
  • 48
    • 84908336426 scopus 로고    scopus 로고
    • Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases
    • Bagnall RD, Crompton DE, Cutmore C, et al., Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases. Neurology 2014; 83: 1018-1021.
    • (2014) Neurology , vol.83 , pp. 1018-1021
    • Bagnall, R.D.1    Crompton, D.E.2    Cutmore, C.3
  • 49
    • 84921845694 scopus 로고    scopus 로고
    • Association of prone position with sudden unexpected death in epilepsy
    • Liebenthal JA, Wu S, Rose S, Ebersole JS, Tao JX,. Association of prone position with sudden unexpected death in epilepsy. Neurology 2015; 84: 703-709.
    • (2015) Neurology , vol.84 , pp. 703-709
    • Liebenthal, J.A.1    Wu, S.2    Rose, S.3    Ebersole, J.S.4    Tao, J.X.5
  • 50
    • 77953144675 scopus 로고    scopus 로고
    • Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome
    • Tomas M, Napolitano C, De Giuli L, et al., Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome. J Am Coll Cardiol 2010; 55: 2745-2752.
    • (2010) J Am Coll Cardiol , vol.55 , pp. 2745-2752
    • Tomas, M.1    Napolitano, C.2    De Giuli, L.3
  • 51
    • 84902281810 scopus 로고    scopus 로고
    • Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
    • Scheffer IE, Heron SE, Regan BM, et al., Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol 2014; 75: 782-787.
    • (2014) Ann Neurol , vol.75 , pp. 782-787
    • Scheffer, I.E.1    Heron, S.E.2    Regan, B.M.3
  • 52
    • 78049485650 scopus 로고    scopus 로고
    • Familial mesial temporal lobe epilepsy: A benign epilepsy syndrome showing complex inheritance
    • Crompton DE, Scheffer IE, Taylor I, et al., Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance. Brain 2010; 133: 3221-3231.
    • (2010) Brain , vol.133 , pp. 3221-3231
    • Crompton, D.E.1    Scheffer, I.E.2    Taylor, I.3
  • 53
    • 84922018584 scopus 로고    scopus 로고
    • Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy
    • van Kranenburg M, Hoogeveen-Westerveld M, Nellist M,. Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy. Hum Mutat 2015; 36: 200-209.
    • (2015) Hum Mutat , vol.36 , pp. 200-209
    • Van Kranenburg, M.1    Hoogeveen-Westerveld, M.2    Nellist, M.3
  • 54
    • 84911419000 scopus 로고    scopus 로고
    • Genotype phenotype associations across the voltage-gated sodium channel family
    • Brunklaus A, Ellis R, Reavey E, Semsarian C, Zuberi SM,. Genotype phenotype associations across the voltage-gated sodium channel family. J Med Genet 2014; 51: 650-658.
    • (2014) J Med Genet , vol.51 , pp. 650-658
    • Brunklaus, A.1    Ellis, R.2    Reavey, E.3    Semsarian, C.4    Zuberi, S.M.5
  • 55
    • 0035074294 scopus 로고    scopus 로고
    • Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus
    • Wallace RH, Scheffer IE, Barnett S, et al., Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet 2001; 68: 859-865.
    • (2001) Am J Hum Genet , vol.68 , pp. 859-865
    • Wallace, R.H.1    Scheffer, I.E.2    Barnett, S.3
  • 56
    • 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): 55-58.
    • (2011) Epilepsia , vol.52 , pp. 55-58
    • Delogu, A.B.1    Spinelli, A.2    Battaglia, D.3
  • 57
    • 84921694268 scopus 로고    scopus 로고
    • Autonomic control of heart rate and QT interval variability influences arrhythmic risk in long QT syndrome type 1
    • Porta A, Girardengo G, Bari V, et al., Autonomic control of heart rate and QT interval variability influences arrhythmic risk in long QT syndrome type 1. J Am Coll Cardiol 2015; 65: 367-374.
    • (2015) J Am Coll Cardiol , vol.65 , pp. 367-374
    • Porta, A.1    Girardengo, G.2    Bari, V.3
  • 58
    • 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 (pt 1): 100-109.
    • (2007) Brain , vol.130 , pp. 100-109
    • Scheffer, I.E.1    Harkin, L.A.2    Grinton, B.E.3
  • 59
    • 45749090058 scopus 로고    scopus 로고
    • Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans
    • Watanabe H, Koopmann TT, Le Scouarnec S, et al., Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest 2008; 118: 2260-2268.
    • (2008) J Clin Invest , vol.118 , pp. 2260-2268
    • Watanabe, H.1    Koopmann, T.T.2    Le Scouarnec, S.3
  • 60
    • 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
  • 61
    • 84901449954 scopus 로고    scopus 로고
    • Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome
    • Reid CA, Leaw B, Richards KL, et al., Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome. Brain 2014; 137 (pt 6): 1701-1715.
    • (2014) Brain , vol.137 , pp. 1701-1715
    • Reid, C.A.1    Leaw, B.2    Richards, K.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.