메뉴 건너뛰기




Volumn 14, Issue 4, 2007, Pages 424-427

Genetic variants in the IMPA2 gene do not confer increased risk of febrile seizures in Caucasian patients

Author keywords

Association studies; Ethnicity; Febrile seizures; Genetics; IMPA2

Indexed keywords

ENZYME; MYO INOSITOL MONOPHOSPHATASE 2; UNCLASSIFIED DRUG;

EID: 33947576551     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2007.01702.x     Document Type: Article
Times cited : (7)

References (32)
  • 1
    • 0019942526 scopus 로고
    • Epidemiology of seizure disorders in children
    • Leviton A, Cowan LD. Epidemiology of seizure disorders in children. Neuroepidemiology 1982; 1: 40-83.
    • (1982) Neuroepidemiology , vol.1 , pp. 40-83
    • Leviton, A.1    Cowan, L.D.2
  • 2
    • 0021324327 scopus 로고
    • Epidemiology of febrile and afebrile convulsions in children in Japan
    • Tsuboi T. Epidemiology of febrile and afebrile convulsions in children in Japan. Neurology 1984; 34: 175-181.
    • (1984) Neurology , vol.34 , pp. 175-181
    • Tsuboi, T.1
  • 5
    • 6844240853 scopus 로고    scopus 로고
    • Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest
    • Johnson EW, Dubovsky J, Rich SS et al. Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Human Molecular Genetics 1998; 7: 63-67.
    • (1998) Human Molecular Genetics , vol.7 , pp. 63-67
    • Johnson, E.W.1    Dubovsky, J.2    Rich, S.S.3
  • 6
    • 0032834017 scopus 로고    scopus 로고
    • A locus for febrile seizures (FEB3) maps to chromosome 2q23-24
    • Peiffer A, Thompson J, Charlier C et al. A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. Annals of Neurology 1999; 46: 671-678.
    • (1999) Annals of Neurology , vol.46 , pp. 671-678
    • Peiffer, A.1    Thompson, J.2    Charlier, C.3
  • 7
    • 0036894233 scopus 로고    scopus 로고
    • A locus for simple pure febrile seizures maps to chromosome 6q22-q24
    • Nabbout R, Prud'homme JF, Herman A et al. A locus for simple pure febrile seizures maps to chromosome 6q22-q24. Brain 2002; 125: 2668-2680.
    • (2002) Brain , vol.125 , pp. 2668-2680
    • Nabbout, R.1    Prud'homme, J.F.2    Herman, A.3
  • 8
    • 33749684849 scopus 로고    scopus 로고
    • Identification of a novel locus for febrile seizures and epilepsy on chromosome 21q22
    • Hedera P, Ma S, Blair MA et al. Identification of a novel locus for febrile seizures and epilepsy on chromosome 21q22. Epilepsia 2006; 47: 1622-1628.
    • (2006) Epilepsia , vol.47 , pp. 1622-1628
    • Hedera, P.1    Ma, S.2    Blair, M.A.3
  • 9
    • 17344375789 scopus 로고    scopus 로고
    • Significant evidence for linkage of febrile seizures to chromosome 5q14-q15
    • Nakayama J, Hamano K, Iwasaki N et al. Significant evidence for linkage of febrile seizures to chromosome 5q14-q15. Human Molecular Genetics 2000; 9: 87-91.
    • (2000) Human Molecular Genetics , vol.9 , pp. 87-91
    • Nakayama, J.1    Hamano, K.2    Iwasaki, N.3
  • 11
    • 0034069651 scopus 로고    scopus 로고
    • Mutations in SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
    • Escayg A, MacDonald BT, Meisler MH et al. Mutations in SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nature Genetics 2000; 24: 343-345.
    • (2000) Nature Genetics , vol.24 , pp. 343-345
    • Escayg, A.1    MacDonald, B.T.2    Meisler, M.H.3
  • 12
    • 14344277590 scopus 로고    scopus 로고
    • A missense mutation of the Na+ channel alpha-II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
    • Sugawara T, Tsurubuchi Y, Agarwala KL et al. A missense mutation of the Na+ channel alpha-II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proceedings of the National Academy of Sciences United States of America 2001; 98: 6384-6389.
    • (2001) Proceedings of the National Academy of Sciences United States of America , vol.98 , pp. 6384-6389
    • Sugawara, T.1    Tsurubuchi, Y.2    Agarwala, K.L.3
  • 13
    • 0035030766 scopus 로고    scopus 로고
    • First genetic evidence of GABA(A) receptor dysfunction in epilepsy: A mutation in the gamma2-subunit gene
    • Baulac S, Huberfeld G, Gourfinkel-An I et al. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nature Genetics 2001; 28: 46-48.
    • (2001) Nature Genetics , vol.28 , pp. 46-48
    • Baulac, S.1    Huberfeld, G.2    Gourfinkel-An, I.3
  • 14
    • 30144442387 scopus 로고    scopus 로고
    • Hedera PMutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures
    • Ma S, Abou-Khalil B, Blair MA, Sutcliffe JS, Haines JL, Hedera PMutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures. Neuroscience Letters 2006; 394: 74-78.
    • (2006) Neuroscience Letters , vol.394 , pp. 74-78
    • Ma, S.1    Abou-Khalil, B.2    Blair, M.A.3    Sutcliffe, J.S.4    Haines, J.L.5
  • 15
    • 8844220357 scopus 로고    scopus 로고
    • Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18
    • Nakayama J, Yamamoto N, Hamano K et al. Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18. Neurology 2004; 63: 1803-1807.
    • (2004) Neurology , vol.63 , pp. 1803-1807
    • Nakayama, J.1    Yamamoto, N.2    Hamano, K.3
  • 16
    • 0019205869 scopus 로고
    • Febrile seizures: Long-term management of children with fever-associated seizures
    • Consensus statement. Febrile seizures: long-term management of children with fever-associated seizures. Pediatrics 1980; 66: 1009-1012.
    • (1980) Pediatrics , vol.66 , pp. 1009-1012
    • statement, C.1
  • 18
    • 23444437212 scopus 로고    scopus 로고
    • Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: Where to from here?
    • Cavalleri GL, Lynch JM, Depondt C et al. Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: where to from here? Brain 2005; 128: 1832-1840.
    • (2005) Brain , vol.128 , pp. 1832-1840
    • Cavalleri, G.L.1    Lynch, J.M.2    Depondt, C.3
  • 19
    • 26444567845 scopus 로고    scopus 로고
    • The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures
    • Ma S, Abou-Khalil B, Sutcliffe JS, Haines JL, Hedera P. The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures. BioMedCentral Medical Genetics 2005; 6: 13.
    • (2005) BioMedCentral Medical Genetics , vol.6 , pp. 13
    • Ma, S.1    Abou-Khalil, B.2    Sutcliffe, J.S.3    Haines, J.L.4    Hedera, P.5
  • 20
    • 18244368709 scopus 로고    scopus 로고
    • Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?
    • Tan NC, Heron SE, Scheffer IE, Berkovic SF, Mulley JC. Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy? Epilepsia 2005; 46: 778-780.
    • (2005) Epilepsia , vol.46 , pp. 778-780
    • Tan, N.C.1    Heron, S.E.2    Scheffer, I.E.3    Berkovic, S.F.4    Mulley, J.C.5
  • 21
    • 7944233055 scopus 로고    scopus 로고
    • Genetic association studies in epilepsy: "The truth is out there
    • Tan NGC, Mulley JC, Berkovic SL. Genetic association studies in epilepsy: "The truth is out there". Epilepsia 2004; 45: 1429-1442.
    • (2004) Epilepsia , vol.45 , pp. 1429-1442
    • Tan, N.G.C.1    Mulley, J.C.2    Berkovic, S.L.3
  • 22
    • 0037426052 scopus 로고    scopus 로고
    • Problems of reporting genetic associations with complex outcomes
    • Colhoun HM, McKeigue PM, Davey Smith G. Problems of reporting genetic associations with complex outcomes. Lancet 2003; 361: 865-872.
    • (2003) Lancet , vol.361 , pp. 865-872
    • Colhoun, H.M.1    McKeigue, P.M.2    Davey Smith, G.3
  • 23
    • 0037442092 scopus 로고    scopus 로고
    • Population stratification and spurious allelic association
    • Cardon LP, Palmer LJ. Population stratification and spurious allelic association. Lancet 2003; 361: 598-604.
    • (2003) Lancet , vol.361 , pp. 598-604
    • Cardon, L.P.1    Palmer, L.J.2
  • 24
    • 0035833934 scopus 로고    scopus 로고
    • Genetic association studies genes in search of diseases
    • Bird TD, Jarvik GP, Wood NW. Genetic association studies genes in search of diseases. Neurology 2001; 57: 1153-1154.
    • (2001) Neurology , vol.57 , pp. 1153-1154
    • Bird, T.D.1    Jarvik, G.P.2    Wood, N.W.3
  • 25
    • 0000685667 scopus 로고    scopus 로고
    • A human myo-inositol monophosphatase gene (IMPA2) localized in a putative susceptibility region for bipolar disorder on chromosome 18p11.2: Genomic structure and polymorphism screening in manic-depressive patients
    • Sjoholt G, Gulbrandsen AK, Lovlie R, Berle JO, Molven A, Steen VM. A human myo-inositol monophosphatase gene (IMPA2) localized in a putative susceptibility region for bipolar disorder on chromosome 18p11.2: genomic structure and polymorphism screening in manic-depressive patients. Molecular Psychiatry 2000; 2: 172-180.
    • (2000) Molecular Psychiatry , vol.2 , pp. 172-180
    • Sjoholt, G.1    Gulbrandsen, A.K.2    Lovlie, R.3    Berle, J.O.4    Molven, A.5    Steen, V.M.6
  • 26
    • 3042763119 scopus 로고    scopus 로고
    • Examination of IMPA1 and IMPA2 genes in manic-depressive patients: Association between IMPA2 promoter polymorphisms and bipolar disorder
    • Sjoholt G, Ebstein RP, Lie RT et al. Examination of IMPA1 and IMPA2 genes in manic-depressive patients: association between IMPA2 promoter polymorphisms and bipolar disorder. Molecular Psychiatry 2004; 6: 621-629.
    • (2004) Molecular Psychiatry , vol.6 , pp. 621-629
    • Sjoholt, G.1    Ebstein, R.P.2    Lie, R.T.3
  • 27
    • 13544270229 scopus 로고    scopus 로고
    • (IMPA2) polymorphisms with bipolar affective disorder and response to lithium treatment
    • Dimitrova A, Milanova V, Krastev S et al. (IMPA2) polymorphisms with bipolar affective disorder and response to lithium treatment. Pharmacogenomics Journal 2005; 2: 35-41.
    • (2005) Pharmacogenomics Journal , vol.2 , pp. 35-41
    • Dimitrova, A.1    Milanova, V.2    Krastev, S.3
  • 28
    • 33947579777 scopus 로고    scopus 로고
    • Lack of Lithium-Like Behavioral and Molecular Effects in IMPA2 Knockout Mice
    • in press
    • Cryns K, Shamir A, Shapiro J et al. Lack of Lithium-Like Behavioral and Molecular Effects in IMPA2 Knockout Mice. Neuropsychopharmacology 2006, in press.
    • (2006) Neuropsychopharmacology
    • Cryns, K.1    Shamir, A.2    Shapiro, J.3
  • 29
    • 0030220460 scopus 로고    scopus 로고
    • Inositol monophosphatase, the putative therapeutic target for lithium
    • Atack JR. Inositol monophosphatase, the putative therapeutic target for lithium. Brain Research: Brain Research Reviews 1996; 22: 183-190.
    • (1996) Brain Research: Brain Research Reviews , vol.22 , pp. 183-190
    • Atack, J.R.1
  • 30
    • 0020596356 scopus 로고
    • Systemic cholinergic agents induce seizures and brain damage in lithium treated rats
    • Honchar MP, Olney JW, Sherman WR. Systemic cholinergic agents induce seizures and brain damage in lithium treated rats. Science 1983; 220: 323-325.
    • (1983) Science , vol.220 , pp. 323-325
    • Honchar, M.P.1    Olney, J.W.2    Sherman, W.R.3
  • 31
    • 0022636727 scopus 로고
    • Characterization of lithium potentiation of pilocarpine-induced status epilepticus in rats
    • Jope RS, Morrisett RA, Snead OC. Characterization of lithium potentiation of pilocarpine-induced status epilepticus in rats. Experimental Neurology 1986; 91: 471-480.
    • (1986) Experimental Neurology , vol.91 , pp. 471-480
    • Jope, R.S.1    Morrisett, R.A.2    Snead, O.C.3
  • 32
    • 33747876660 scopus 로고    scopus 로고
    • A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity
    • Urak L, Feucht M, Fathi N, Hornik K, Fuchs K. A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. Human Molecular Genetics 2006; 15: 2533-2541.
    • (2006) Human Molecular Genetics , vol.15 , pp. 2533-2541
    • Urak, L.1    Feucht, M.2    Fathi, N.3    Hornik, K.4    Fuchs, K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.