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Volumn 21, Issue 24, 2012, Pages 5359-5372

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

(145)  Steffens, Michael a   Leu, Costin b   Ruppert, Ann Kathrin b   Zara, Federico c,az   Striano, Pasquale c,az   Robbiano, Angela c,az   Capovilla, Giuseppe d,ba   Tinuper, Paolo e,ba   Gambardella, Antonio f,ba   Bianchi, Amedeo g   La Neve, Angela ba   Crichiutti, Giovanni i,ba   de kovel, Carolien G F j   Trenité, Dorothée Kasteleijn Nolst j   de Haan, Gerrit Jan k   Lindhout, Dick j,k   Gaus, Verena l   Schmitz, Bettina l   Janz, Dieter l   Weber, Yvonne G m   more..


Author keywords

[No Author keywords available]

Indexed keywords

ABSENCE; ARTICLE; CHROMOSOME 17Q; CHROMOSOME 22Q; CHROMOSOME 2P; CONTROLLED STUDY; FEMALE; GENERALIZED EPILEPSY; GENETIC ABSENCE EPILEPSY; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC GENERALIZED EPILEPSY; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MYOCLONUS EPILEPSY; PRIORITY JOURNAL;

EID: 84870312067     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds373     Document Type: Article
Times cited : (128)

References (63)
  • 1
    • 0027152087 scopus 로고
    • Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935-1984
    • Hauser, W.A., Annegers, J.F. and Kurland, L.T. (1993) Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935-1984. Epilepsia, 34, 453-468.
    • (1993) Epilepsia , vol.34 , pp. 453-468
    • Hauser, W.A.1    Annegers, J.F.2    Kurland, L.T.3
  • 2
    • 38949127199 scopus 로고    scopus 로고
    • Navigating the channels and beyond: unravelling the genetics of the epilepsies
    • Helbig, I., Scheffer, I.E., Mulley, J.C. and Berkovic, S.F. (2008) Navigating the channels and beyond: unravelling the genetics of the epilepsies. Lancet Neurol., 7, 231-245.
    • (2008) Lancet Neurol , vol.7 , pp. 231-245
    • Helbig, I.1    Scheffer, I.E.2    Mulley, J.C.3    Berkovic, S.F.4
  • 3
    • 0035046476 scopus 로고    scopus 로고
    • Newly diagnosed unprovoked epileptic seizures: presentation at diagnosis in CAROLE study. Coordination Active du Réseau Observatoire Longitudinal de l' Epilepsie
    • Jallon, P., Loiseau, P. and Loiseau, J. (2001) Newly diagnosed unprovoked epileptic seizures: presentation at diagnosis in CAROLE study. Coordination Active du Réseau Observatoire Longitudinal de l' Epilepsie. Epilepsia, 42, 464-475.
    • (2001) Epilepsia , vol.42 , pp. 464-475
    • Jallon, P.1    Loiseau, P.2    Loiseau, J.3
  • 4
    • 0024317220 scopus 로고
    • Proposal for revised classification of epilepsies and epileptic, syndromes., Commission on Classification and Terminology of the International League Against Epilepsy
    • Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy (1989). Epilepsia, 30, 389-399.
    • (1989) Epilepsia , vol.30 , pp. 389-399
  • 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, A.T., Berkovic, S.F., Brodie, M.J., Buchhalter, J., Cross, J.H., van Emde Boas, W., Engel, J., French, J., Glauser, T.A., Mathern, G.W. et al. (2010) Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia, 51, 676-685.
    • (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    Engel, J.7    French, J.8    Glauser, T.A.9    Mathern, G.W.10
  • 6
    • 32944466442 scopus 로고    scopus 로고
    • Idiopathic generalized epilepsies recognized by the International League Against Epilepsy
    • Nordli, D.R. Jr (2005) Idiopathic generalized epilepsies recognized by the International League Against Epilepsy. Epilepsia, 46(Suppl. 9), 48-56.
    • (2005) Epilepsia , vol.46 , pp. 48-56
    • Nordli, D.R.1
  • 7
    • 32944476501 scopus 로고    scopus 로고
    • Cellular and network mechanisms of spike-wave seizures
    • Blumenfeld, H. (2005) Cellular and network mechanisms of spike-wave seizures. Epilepsia, 46(Suppl. 9), 21-33.
    • (2005) Epilepsia , vol.46 , pp. 21-33
    • Blumenfeld, H.1
  • 8
    • 0031748082 scopus 로고    scopus 로고
    • Epilepsies in twins: genetics of the major epilepsy syndromes
    • Berkovic, S.F., Howell, R.A., Hay, D.A. and Hopper, J.L. (1998) Epilepsies in twins: genetics of the major epilepsy syndromes. Ann. Neurol., 43, 435-445.
    • (1998) Ann. Neurol. , vol.43 , pp. 435-445
    • Berkovic, S.F.1    Howell, R.A.2    Hay, D.A.3    Hopper, J.L.4
  • 12
    • 58149337088 scopus 로고    scopus 로고
    • Mechanisms of human inherited epilepsies
    • Reid, C.A., Berkovic, S.F. and Petrou, S. (2009) Mechanisms of human inherited epilepsies. Prog. Neurobiol., 87, 41-57.
    • (2009) Prog. Neurobiol. , vol.87 , pp. 41-57
    • Reid, C.A.1    Berkovic, S.F.2    Petrou, S.3
  • 13
    • 32944459586 scopus 로고    scopus 로고
    • Genetics of idiopathic generalized epilepsies
    • Gardiner, M. (2005) Genetics of idiopathic generalized epilepsies. Epilepsia, 46(Suppl. 9), 15-20.
    • (2005) Epilepsia , vol.46 , pp. 15-20
    • Gardiner, M.1
  • 17
    • 77951662415 scopus 로고    scopus 로고
    • The Epilepsy Genetic Association Database (epiGAD): analysis of 165 genetic association studies, 1996-2008
    • Tan, N.C.K. and Berkovic, S.F. (2010) The Epilepsy Genetic Association Database (epiGAD): analysis of 165 genetic association studies, 1996-2008. Epilepsia, 51, 686-689.
    • (2010) Epilepsia , vol.51 , pp. 686-689
    • Tan, N.C.K.1    Berkovic, S.F.2
  • 18
    • 78651344374 scopus 로고    scopus 로고
    • Blinders, phenotype, and fashionable genetic analysis: a critical examination of the current state of epilepsy genetic studies
    • Greenberg, D.A. and Subaran, R. (2011) Blinders, phenotype, and fashionable genetic analysis: a critical examination of the current state of epilepsy genetic studies. Epilepsia, 52, 1-9.
    • (2011) Epilepsia , vol.52 , pp. 1-9
    • Greenberg, D.A.1    Subaran, R.2
  • 19
    • 79957603217 scopus 로고    scopus 로고
    • Epilepsy genetics-past, present, and future
    • Poduri, A. and Lowenstein, D. (2011) Epilepsy genetics-past, present, and future. Curr. Opin. Genet. Dev., 21, 325-332.
    • (2011) Curr. Opin. Genet. Dev. , vol.21 , pp. 325-332
    • Poduri, A.1    Lowenstein, D.2
  • 24
    • 77954407332 scopus 로고    scopus 로고
    • Genomewide association studies and assessment of the risk of disease
    • Manolio, T.A. (2010) Genomewide association studies and assessment of the risk of disease. N. Engl. J. Med., 363, 166-176.
    • (2010) N. Engl. J. Med. , vol.363 , pp. 166-176
    • Manolio, T.A.1
  • 26
    • 77956300047 scopus 로고    scopus 로고
    • Sodium channel SCN1A and epilepsy: mutations and mechanisms
    • Escayg, A. and Goldin, A.L. (2010) Sodium channel SCN1A and epilepsy: mutations and mechanisms. Epilepsia, 51, 1650-1658.
    • (2010) Epilepsia , vol.51 , pp. 1650-1658
    • Escayg, A.1    Goldin, A.L.2
  • 29
    • 50549083074 scopus 로고    scopus 로고
    • Curses-winner's and otherwise- -in genetic epidemiology
    • Kraft, P. (2008) Curses-winner's and otherwise- -in genetic epidemiology. Epidemiology, 19, 649-651.
    • (2008) Epidemiology , vol.19 , pp. 649-651
    • Kraft, P.1
  • 30
    • 84863338087 scopus 로고    scopus 로고
    • And Genome-Wide Significance Project What should the genome-wide significance threshold be? Empirical replication of borderline genetic associations
    • Panagiotou, O.A. and Ioannidis, J.P. and Genome-Wide Significance Project. (2012) What should the genome-wide significance threshold be? Empirical replication of borderline genetic associations. Int. J. Epidemiol., 41, 273-286.
    • (2012) Int. J. Epidemiol. , vol.41 , pp. 273-286
    • Panagiotou, O.A.1    Ioannidis, J.P.2
  • 34
    • 40649087409 scopus 로고    scopus 로고
    • The facial dysmorphy in the newly recognised microdeletion 2p15-p16 1 refined to a 570kb region in 2p15
    • Chabchoub, E., Vermeesch, J.R., de Ravel, T., de Cock, P. and Fryns, J.-P. (2008) The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570kb region in 2p15. J. Med. Genet., 45, 189-192.
    • (2008) J. Med. Genet. , vol.45 , pp. 189-192
    • Chabchoub, E.1    Vermeesch, J.R.2    de Ravel, T.3    de Cock, P.4    Fryns, J.-P.5
  • 36
    • 71449085791 scopus 로고    scopus 로고
    • Molecular basis of reduced pyridoxine 5'-phosphate oxidase catalytic activity in neonatal epileptic encephalopathy disorder
    • Musayev, F.N., Di Salvo, M.L., Saavedra, M.A., Contestabile, R., Ghatge, M.S., Haynes, A., Schirch, V. and Safo, M.K. (2009) Molecular basis of reduced pyridoxine 5'-phosphate oxidase catalytic activity in neonatal epileptic encephalopathy disorder. J. Biol. Chem., 284, 30949-30956.
    • (2009) J. Biol. Chem. , vol.284 , pp. 30949-30956
    • Musayev, F.N.1    Di Salvo, M.L.2    Saavedra, M.A.3    Contestabile, R.4    Ghatge, M.S.5    Haynes, A.6    Schirch, V.7    Safo, M.K.8
  • 38
    • 0034644730 scopus 로고    scopus 로고
    • Identification of a common protein association region in the neuronal Cdk5 activator
    • Wang, X., Ching, Y.P., Lam, W.H., Qi, Z., Zhang, M. and Wang, J.H. (2000) Identification of a common protein association region in the neuronal Cdk5 activator. J. Biol. Chem., 275, 31763-31769.
    • (2000) J. Biol. Chem. , vol.275 , pp. 31763-31769
    • Wang, X.1    Ching, Y.P.2    Lam, W.H.3    Qi, Z.4    Zhang, M.5    Wang, J.H.6
  • 40
    • 0032619730 scopus 로고    scopus 로고
    • The relevance of slight migrational disturbances (microdysgenesis) to the etiology of the epilepsies
    • Meencke, H.J. and Veith, G. (1999) The relevance of slight migrational disturbances (microdysgenesis) to the etiology of the epilepsies. Adv. Neurol., 79, 123-131.
    • (1999) Adv. Neurol. , vol.79 , pp. 123-131
    • Meencke, H.J.1    Veith, G.2
  • 41
    • 0032746626 scopus 로고    scopus 로고
    • Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI
    • Woermann, F.G., Free, S.L., Koepp, M.J., Sisodiya, S.M. and Duncan, J.S. (1999) Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI. Brain, 122, 2101-2108.
    • (1999) Brain , vol.122 , pp. 2101-2108
    • Woermann, F.G.1    Free, S.L.2    Koepp, M.J.3    Sisodiya, S.M.4    Duncan, J.S.5
  • 43
    • 65549094126 scopus 로고    scopus 로고
    • Clinical spectrum of SCN1A mutations
    • Gambardella, A. and Marini, C. (2009) Clinical spectrum of SCN1A mutations. Epilepsia, 50(Suppl. 5), 20-23.
    • (2009) Epilepsia , vol.50 , pp. 20-23
    • Gambardella, A.1    Marini, C.2
  • 47
    • 77955090532 scopus 로고    scopus 로고
    • Nicotinic receptor channelopathies and epilepsy
    • Steinlein, O.K. and Bertrand, D. (2010) Nicotinic receptor channelopathies and epilepsy. Pflugers Arch., 460, 495-503.
    • (2010) Pflugers Arch , vol.460 , pp. 495-503
    • Steinlein, O.K.1    Bertrand, D.2
  • 48
    • 77955495582 scopus 로고    scopus 로고
    • Thalamic gating of corticostriatal signaling by cholinergic interneurons
    • Ding, J.B., Guzman, J.N., Peterson, J.D., Goldberg, J.A. and Surmeier, D.J. (2010) Thalamic gating of corticostriatal signaling by cholinergic interneurons. Neuron, 67, 294-307.
    • (2010) Neuron , vol.67 , pp. 294-307
    • Ding, J.B.1    Guzman, J.N.2    Peterson, J.D.3    Goldberg, J.A.4    Surmeier, D.J.5
  • 49
    • 77951659517 scopus 로고    scopus 로고
    • M3 muscarinic acetylcholine receptor expression confers differential cholinergic modulation to neurochemically distinct hippocampal basket cell subtypes
    • Cea-del Rio, C.A., Lawrence, J.J., Tricoire, L., Erdelyi, F., Szabo, G. and McBain, C.J. (2010) M3 muscarinic acetylcholine receptor expression confers differential cholinergic modulation to neurochemically distinct hippocampal basket cell subtypes. J. Neurosci., 30, 6011-6024.
    • (2010) J. Neurosci. , vol.30 , pp. 6011-6024
    • Cea-del Rio, C.A.1    Lawrence, J.J.2    Tricoire, L.3    Erdelyi, F.4    Szabo, G.5    McBain, C.J.6
  • 50
    • 80054124747 scopus 로고    scopus 로고
    • Hippocampal CA3 transcriptome signature correlates with initial precipitating injury in refractory mesial temporal lobe epilepsy
    • Bando, S.Y., Alegro, M.C., Amaro, E. Jr, Silva, A.V., Castro, L.H., Wen, H.T., Lima, L.A., Brentani, H. and Moreira-Filho, C.A. (2011) Hippocampal CA3 transcriptome signature correlates with initial precipitating injury in refractory mesial temporal lobe epilepsy. PLoS One, 6, e26268.
    • (2011) PLoS One , vol.6
    • Bando, S.Y.1    Alegro, M.C.2    Amaro, E.3    Silva, A.V.4    Castro, L.H.5    Wen, H.T.6    Lima, L.A.7    Brentani, H.8    Moreira-Filho, C.A.9
  • 51
    • 0037691865 scopus 로고    scopus 로고
    • Role of specific muscarinic receptor subtypes in cholinergic parasympathomimetic responses, in vivo phosphoinositide hydrolysis, and pilocarpine-induced seizure activity
    • Bymaster, F.P., Carter, P.A., Yamada, M., Gomeza, J., Wess, J., Hamilton, S.E., Nathanson, N.M., McKinzie, D.L. and Felder, C.C. (2003) Role of specific muscarinic receptor subtypes in cholinergic parasympathomimetic responses, in vivo phosphoinositide hydrolysis, and pilocarpine-induced seizure activity. Eur. J. Neurosci., 17, 1403-1410.
    • (2003) Eur. J. Neurosci. , vol.17 , pp. 1403-1410
    • Bymaster, F.P.1    Carter, P.A.2    Yamada, M.3    Gomeza, J.4    Wess, J.5    Hamilton, S.E.6    Nathanson, N.M.7    McKinzie, D.L.8    Felder, C.C.9
  • 54
    • 30344454706 scopus 로고    scopus 로고
    • A genotype calling algorithm for Affymetrix SNP arrays
    • Rabbee, N. and Speed, T.P. (2006) A genotype calling algorithm for Affymetrix SNP arrays. Bioinformatics, 22, 7-12.
    • (2006) Bioinformatics , vol.22 , pp. 7-12
    • Rabbee, N.1    Speed, T.P.2
  • 55
    • 67651222400 scopus 로고    scopus 로고
    • A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
    • Howie, B.N., Donnelly, P. and Marchini, J. (2009) A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet., 5, e1000529.
    • (2009) PLoS Genet , vol.5
    • Howie, B.N.1    Donnelly, P.2    Marchini, J.3
  • 57
    • 34347344976 scopus 로고    scopus 로고
    • A new multipoint method for genome-wide association studies by imputation of genotypes
    • Marchini, J., Howie, B., Myers, S., McVean, G. and Donnelly, P. (2007) A new multipoint method for genome-wide association studies by imputation of genotypes. Nat. Genet., 39, 906-913.
    • (2007) Nat. Genet. , vol.39 , pp. 906-913
    • Marchini, J.1    Howie, B.2    Myers, S.3    McVean, G.4    Donnelly, P.5
  • 59
    • 84862260334 scopus 로고    scopus 로고
    • Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets
    • Li, M.X., Yeung, J.M., Cherny, S.S. and Sham, P.C. (2012) Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets. Hum. Genet., 131, 747-756.
    • (2012) Hum. Genet. , vol.131 , pp. 747-756
    • Li, M.X.1    Yeung, J.M.2    Cherny, S.S.3    Sham, P.C.4
  • 61
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: analysis and visualization of LD and haplotype maps
    • Barrett, J.C., Fry, B., Maller, J. and Daly, M.J. (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics, 21, 263-265.
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 62
    • 31744435871 scopus 로고    scopus 로고
    • Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies
    • Skol, A.D., Scott, L.J., Abecasis, G.R. and Boehnke, M. (2006) Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat. Genet., 38, 209-213.
    • (2006) Nat. Genet. , vol.38 , pp. 209-213
    • Skol, A.D.1    Scott, L.J.2    Abecasis, G.R.3    Boehnke, M.4
  • 63
    • 28444493739 scopus 로고    scopus 로고
    • Combining probability from independent tests: the weighted Z-method is superior to Fisher's approach
    • Whitlock, M.C. (2005) Combining probability from independent tests: the weighted Z-method is superior to Fisher's approach. J. Evol. Biol., 18, 1368-1373.
    • (2005) J. Evol. Biol. , vol.18 , pp. 1368-1373
    • Whitlock, M.C.1


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