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Volumn 136, Issue 10, 2013, Pages 3140-3150

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

(71)  Kasperavičiute, Dalia a   Catarino, Claudia B a,b   Matarin, Mar a   Leu, Costin a   Novy, Jan a,b   Tostevin, Anna a,b   Leal, Bárbara c   Hessel, Ellen V S d   Hallmann, Kerstin e   Hildebrand, Michael S f   Dahl, Hans Henrik M f   Ryten, Mina g,h   Trabzuni, Daniah g,h,i   Ramasamy, Adaikalavan g,h,j   Alhusaini, Saud k,l   Doherty, Colin P m   Dorn, Thomas n   Hansen, Jörg n   Krämer, Günter n   Steinhoff, Bernhard J o   more..


Author keywords

association; complex genetics; mesial temporal lobe epilepsy; mesial temporal sclerosis; SCN1A

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 2Q; CONTROLLED STUDY; EPILEPSY; FEBRILE CONVULSION; FEMALE; GENE CLUSTER; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HIPPOCAMPAL SCLEROSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; MESIAL TEMPORAL LOBE EPILEPSY; PRIORITY JOURNAL; RARE DISEASE; EPILEPSY, TEMPORAL LOBE; GENETICS; HIPPOCAMPUS; META ANALYSIS; MUTATION; PATHOLOGY; PROCEDURES; PROSPECTIVE STUDY; SCLEROSIS; SEIZURES, FEBRILE; TEMPORAL LOBE;

EID: 84884838178     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awt233     Document Type: Article
Times cited : (135)

References (35)
  • 1
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • 1000 Genomes Project Consortium
    • 1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks L, Durbin R, et al. A map of human genome variation from population-scale sequencing. Nature. 2010; 467: 1061-73.
    • (2010) Nature , vol.467 , pp. 1061-1073
    • Abecasis, G.R.1    Altshuler, D.2    Auton, A.3    Brooks, L.4    Durbin, R.5
  • 2
    • 0035956488 scopus 로고    scopus 로고
    • Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation
    • Abou-Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, Bailey R, et al. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology 2001; 57: 2265-72.
    • (2001) Neurology , vol.57 , pp. 2265-2272
    • Abou-Khalil, B.1    Ge, Q.2    Desai, R.3    Ryther, R.4    Bazyk, A.5    Bailey, R.6
  • 4
    • 44849124848 scopus 로고    scopus 로고
    • Do SCN1A mutations protect from hippocampal sclerosis?
    • Auvin S, Dulac O, Vallee L. Do SCN1A mutations protect from hippocampal sclerosis? Epilepsia 2008; 49: 1107-8.
    • (2008) Epilepsia , vol.49 , pp. 1107-1108
    • Auvin, S.1    Dulac, O.2    Vallee, L.3
  • 5
    • 77950857874 scopus 로고    scopus 로고
    • Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009
    • Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010; 51: 676-85.
    • (2010) Epilepsia , vol.51 , pp. 676-685
    • Berg, A.T.1    Berkovic, S.F.2    Brodie, M.J.3    Buchhalter, J.4    Cross, J.H.5    Van Emde Boas, W.6
  • 6
    • 84859803413 scopus 로고    scopus 로고
    • Defining clinico-neuropathological subtypes of mesial temporal lobe epilepsy with hippocampal sclerosis
    • Blümcke I, Coras R, Miyata H, Ozkara C. Defining clinico-neuropathological subtypes of mesial temporal lobe epilepsy with hippocampal sclerosis. Brain Pathol 2012; 22: 402-11.
    • (2012) Brain Pathol , vol.22 , pp. 402-411
    • Blümcke, I.1    Coras, R.2    Miyata, H.3    Ozkara, C.4
  • 7
    • 80054087471 scopus 로고    scopus 로고
    • Dravet syndrome as epileptic encephalopathy: Evidence from longterm course and neuropathology
    • Catarino CB, Liu JY, Liagkouras I, Gibbons VS, Labrum RW, Ellis R, et al. Dravet syndrome as epileptic encephalopathy: evidence from longterm course and neuropathology. Brain 2011; 134: 2982-3010.
    • (2011) Brain , vol.134 , pp. 2982-3010
    • Catarino, C.B.1    Liu, J.Y.2    Liagkouras, I.3    Gibbons, V.S.4    Labrum, R.W.5    Ellis, R.6
  • 8
    • 1842453368 scopus 로고    scopus 로고
    • Febrile seizures and mesial temporal sclerosis
    • Cendes F. Febrile seizures and mesial temporal sclerosis. Curr Opin Neurol 2004; 17: 161-4.
    • (2004) Curr Opin Neurol , vol.17 , pp. 161-164
    • Cendes, F.1
  • 9
    • 80054714432 scopus 로고    scopus 로고
    • The long-term outcome of adult epilepsy surgery, patterns of seizure remission, and relapse: A cohort study
    • De Tisi J, Bell GS, Peacock JL, McEvoy AW, Harkness WF, Sander JW, et al. The long-term outcome of adult epilepsy surgery, patterns of seizure remission, and relapse: a cohort study. Lancet 2011; 378: 1388-95.
    • (2011) Lancet , vol.378 , pp. 1388-1395
    • De Tisi, J.1    Bell, G.S.2    Peacock, J.L.3    McEvoy, A.W.4    Harkness, W.F.5    Sander, J.W.6
  • 10
    • 34247586517 scopus 로고    scopus 로고
    • Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A
    • Heinzen EL, Yoon W, Tate SK, Sen A, Wood NW, Sisodiya SM, et al. Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A. Am J Hum Genet 2007; 80: 876-83.
    • (2007) Am J Hum Genet , vol.80 , pp. 876-883
    • Heinzen, E.L.1    Yoon, W.2    Tate, S.K.3    Sen, A.4    Wood, N.W.5    Sisodiya, S.M.6
  • 11
    • 84864417548 scopus 로고    scopus 로고
    • Fast and accurate genotype imputation in genome-wide association studies through pre-phasing
    • Howie B, Fuchsberger C, Stephens M, Marchini J, Abecasis GR. Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet 2012; 44: 955-9.
    • (2012) Nat Genet , vol.44 , pp. 955-959
    • Howie, B.1    Fuchsberger, C.2    Stephens, M.3    Marchini, J.4    Abecasis, G.R.5
  • 12
    • 65249164859 scopus 로고    scopus 로고
    • Validating, augmenting and refining genome-wide association signals
    • Ioannidis JP, Thomas G, Daly MJ. Validating, augmenting and refining genome-wide association signals. Nat Rev Genet 2009; 10: 318-29.
    • (2009) Nat Rev Genet , vol.10 , pp. 318-329
    • Ioannidis, J.P.1    Thomas, G.2    Daly, M.J.3
  • 13
    • 77954356949 scopus 로고    scopus 로고
    • Common genetic variation and susceptibility to partial epilepsies: A genome-wide association study
    • Kasperaviciute D, Catarino CB, Heinzen EL, Depondt C, Cavalleri GL, Caboclo LO, et al. Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. Brain 2010; 133: 2136-47.
    • (2010) Brain , vol.133 , pp. 2136-2147
    • Kasperaviciute, D.1    Catarino, C.B.2    Heinzen, E.L.3    Depondt, C.4    Cavalleri, G.L.5    Caboclo, L.O.6
  • 14
    • 84864681736 scopus 로고    scopus 로고
    • GABAergic excitation after febrile seizures induces ectopic granule cells and adult epilepsy [Internet]
    • (13 September 2012, date last accessed)
    • Koyama R, Tao K, Sasaki T, Ichikawa J, Miyamoto D, Muramatsu R, et al. GABAergic excitation after febrile seizures induces ectopic granule cells and adult epilepsy [Internet]. Nat Med 2012; 18: 1271-8. Available from: http://www.ncbi.nlm.nih.gov/pubmed/22797810 (13 September 2012, date last accessed).
    • (2012) Nat Med , vol.18 , pp. 1271-1278
    • Koyama, R.1    Tao, K.2    Sasaki, T.3    Ichikawa, J.4    Miyamoto, D.5    Muramatsu, R.6
  • 17
    • 78649508578 scopus 로고    scopus 로고
    • MaCH: Using sequence and genotype data to estimate haplotypes and unobserved genotypes
    • Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol 2010; 34: 816-34.
    • (2010) Genet Epidemiol , vol.34 , pp. 816-834
    • Li, Y.1    Willer, C.J.2    Ding, J.3    Scheet, P.4    Abecasis, G.R.5
  • 18
    • 57049094891 scopus 로고    scopus 로고
    • Identification of the promoter region and the 5'-untranslated exons of the human voltage- gated sodium channel Nav1.1 gene (SCN1A) and enhancement of gene expression by the 5'-untranslated exons
    • Long YS, Zhao QH, Su T, Cai YL, Zeng Y, Shi YW, et al. Identification of the promoter region and the 5'-untranslated exons of the human voltage- gated sodium channel Nav1.1 gene (SCN1A) and enhancement of gene expression by the 5'-untranslated exons. J. Neurosci Res 2008; 86: 3375-81.
    • (2008) J. Neurosci Res , vol.86 , pp. 3375-3381
    • Long, Y.S.1    Zhao, Q.H.2    Su, T.3    Cai, Y.L.4    Zeng, Y.5    Shi, Y.W.6
  • 19
    • 77952714079 scopus 로고    scopus 로고
    • GWAMA: Software for genome-wide association meta-analysis
    • Mägi R, Morris AP. GWAMA: software for genome-wide association meta-analysis. BMC Bioinformatics 2010; 11: 288.
    • (2010) BMC Bioinformatics , vol.11 , pp. 288
    • Mägi, R.1    Morris, A.P.2
  • 20
    • 29144515651 scopus 로고    scopus 로고
    • Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures
    • Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, et al. Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. Proc Natl Acad.Sci USA 2005; 102: 18177-82.
    • (2005) Proc Natl Acad.Sci USA , vol.102 , pp. 18177-18182
    • Mantegazza, M.1    Gambardella, A.2    Rusconi, R.3    Schiavon, E.4    Annesi, F.5    Cassulini, R.R.6
  • 21
    • 34447092214 scopus 로고    scopus 로고
    • Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences
    • Martin MS, Tang B, Ta N, Escayg A. Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences. Genomics 2007; 90: 225-35.
    • (2007) Genomics , vol.90 , pp. 225-235
    • Martin, M.S.1    Tang, B.2    Ta, N.3    Escayg, A.4
  • 22
    • 77954514571 scopus 로고    scopus 로고
    • Sodium channel gene family: Epilepsy mutations, gene interactions and modifier effects
    • Meisler MH, O'Brien JE, Sharkey LM. Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. J Physiol (Lond.) 2010; 588: 1841-8.
    • (2010) J Physiol (Lond.) , vol.588 , pp. 1841-1848
    • Meisler, M.H.1    O'brien, J.E.2    Sharkey, L.M.3
  • 23
    • 77954105482 scopus 로고    scopus 로고
    • Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome
    • Nakayama T, Ogiwara I, Ito K, Kaneda M, Mazaki E, Osaka H, et al. Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome. Hum Mutat 2010; 31: 820-9.
    • (2010) Hum Mutat , vol.31 , pp. 820-829
    • Nakayama, T.1    Ogiwara, I.2    Ito, K.3    Kaneda, M.4    Mazaki, E.5    Osaka, H.6
  • 24
    • 84860745721 scopus 로고    scopus 로고
    • Long-term risk of developing epilepsy after febrile seizures: A prospective cohort study
    • Neligan A, Bell GS, Giavasi C, Johnson AL, Goodridge DM, Shorvon SD, et al. Long-term risk of developing epilepsy after febrile seizures: a prospective cohort study. Neurology 2012; 78: 1166-70.
    • (2012) Neurology , vol.78 , pp. 1166-1170
    • Neligan, A.1    Bell, G.S.2    Giavasi, C.3    Johnson, A.L.4    Goodridge, D.M.5    Shorvon, S.D.6
  • 25
    • 84858004619 scopus 로고    scopus 로고
    • Understanding the basic mechanisms underlying seizures in mesial temporal lobe epilepsy and possible therapeutic targets: A review
    • O'Dell CM, Das A, Wallace G 4th, Ray SK, Banik NL. Understanding the basic mechanisms underlying seizures in mesial temporal lobe epilepsy and possible therapeutic targets: a review. J Neurosci Res 2012; 90: 913-24.
    • (2012) J Neurosci Res , vol.90 , pp. 913-924
    • O'Dell, C.M.1    Das, A.2    Wallace IV, G.3    Ray, S.K.4    Banik, N.L.5
  • 26
    • 34249791771 scopus 로고    scopus 로고
    • Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: A circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation
    • Ogiwara I, Miyamoto H, Morita N, Atapour N, Mazaki E, Inoue I, et al. Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. J Neurosci 2007; 27: 5903-14.
    • (2007) J Neurosci , vol.27 , pp. 5903-5914
    • Ogiwara, I.1    Miyamoto, H.2    Morita, N.3    Atapour, N.4    Mazaki, E.5    Inoue, I.6
  • 27
    • 84869088193 scopus 로고    scopus 로고
    • Sodium channels and the neurobiology of epilepsy
    • Oliva M, Berkovic SF, Petrou S. Sodium channels and the neurobiology of epilepsy. Epilepsia 2012; 53: 1849-59.
    • (2012) Epilepsia , vol.53 , pp. 1849-1859
    • Oliva, M.1    Berkovic, S.F.2    Petrou, S.3
  • 29
    • 58149279560 scopus 로고    scopus 로고
    • Prognostic factors in patients with mesial temporal lobe epilepsy
    • Pittau F, Bisulli F, Mai R, Fares JE, Vignatelli L, Labate A, et al. Prognostic factors in patients with mesial temporal lobe epilepsy. Epilepsia 2009; 50 (Suppl 1): 41-4.
    • (2009) Epilepsia , vol.50 , Issue.SUPPL. 1 , pp. 41-44
    • Pittau, F.1    Bisulli, F.2    Mai, R.3    Fares, J.E.4    Vignatelli, L.5    Labate, A.6
  • 30
    • 12244264435 scopus 로고    scopus 로고
    • Genetic power calculator: Design of linkage and association genetic mapping studies of complex traits
    • Purcell S, Cherny SS, Sham PC. Genetic power calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 2003; 19: 149-50.
    • (2003) Bioinformatics , vol.19 , pp. 149-150
    • Purcell, S.1    Cherny, S.S.2    Sham, P.C.3
  • 32
    • 76749161459 scopus 로고    scopus 로고
    • Temporal lobe epilepsy: Neuropathological and clinical correlations in 243 surgically treated patients
    • Tassi L, Meroni A, Deleo F, Villani F, Mai R, Russo GL, et al. Temporal lobe epilepsy: neuropathological and clinical correlations in 243 surgically treated patients. Epileptic Disord 2009; 11: 281-92.
    • (2009) Epileptic Disord , vol.11 , pp. 281-292
    • Tassi, L.1    Meroni, A.2    Deleo, F.3    Villani, F.4    Mai, R.5    Russo, G.L.6
  • 33
    • 78149489936 scopus 로고    scopus 로고
    • Mesial temporal lobe epilepsy: How do we improve surgical outcome?
    • Thom M, Mathern GW, Cross JH, Bertram EH. Mesial temporal lobe epilepsy: how do we improve surgical outcome? Ann Neurol 2010; 68: 424-34.
    • (2010) Ann Neurol , vol.68 , pp. 424-434
    • Thom, M.1    Mathern, G.W.2    Cross, J.H.3    Bertram, E.H.4
  • 34
    • 77955300507 scopus 로고    scopus 로고
    • Self-reported ethnicity, genetic structure and the impact of population stratification in a multiethnic study
    • Wang H, Haiman CA, Kolonel LN, Henderson BE, Wilkens LR, Le Marchand L, et al. Self-reported ethnicity, genetic structure and the impact of population stratification in a multiethnic study. Hum Genet 2010; 128: 165-77.
    • (2010) Hum Genet , vol.128 , pp. 165-177
    • Wang, H.1    Haiman, C.A.2    Kolonel, L.N.3    Henderson, B.E.4    Wilkens, L.R.5    Le Marchand, L.6
  • 35
    • 3042685585 scopus 로고    scopus 로고
    • Mesial temporal lobe epilepsy with hippocampal sclerosis
    • ILAE Commission Report.
    • Wieser HG. ILAE Commission Report. Mesial temporal lobe epilepsy with hippocampal sclerosis. Epilepsia 2004; 45: 695-714.
    • (2004) Epilepsia , vol.45 , pp. 695-714
    • Wieser, H.G.1


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