메뉴 건너뛰기




Volumn 8, Issue 9, 2013, Pages

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Author keywords

[No Author keywords available]

Indexed keywords

5' UNTRANSLATED REGION; ARTICLE; COMORBIDITY; CONTROLLED STUDY; COPY NUMBER VARIATION; ELECTROENCEPHALOGRAPH; EXOME; EXON; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HEMIZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PROTEIN STRUCTURE; RBFOX1 GENE; RBFOX2 GENE; RBFOX3 GENE; RISK ASSESSMENT; ROLANDIC EPILEPSY; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84883637233     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0073323     Document Type: Article
Times cited : (94)

References (33)
  • 1
    • 0027407672 scopus 로고
    • A community-based prospective incidence study of epileptic seizures in children
    • Sidenvall R, Forsgren L, Blomquist HK, Heijbel J, (1993) A community-based prospective incidence study of epileptic seizures in children. Acta Paediatr 82: 60-65.
    • (1993) Acta Paediatr , vol.82 , pp. 60-65
    • Sidenvall, R.1    Forsgren, L.2    Blomquist, H.K.3    Heijbel, J.4
  • 2
    • 0030744690 scopus 로고    scopus 로고
    • Children with focal sharp waves: clinical and genetic aspects
    • Doose H, Brigger-Heuer B, Neubauer B, (1997) Children with focal sharp waves: clinical and genetic aspects. Epilepsia 38: 788-796.
    • (1997) Epilepsia , vol.38 , pp. 788-796
    • Doose, H.1    Brigger-Heuer, B.2    Neubauer, B.3
  • 3
    • 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
    • doi: 10.1111/j.1528-1167.2010.02522.x
    • Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, 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 doi:10.1111/j.1528-1167.2010.02522.x.
    • (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
  • 4
    • 0024536973 scopus 로고
    • Genetics of the partial epilepsies: a review
    • Ottman R, (1989) Genetics of the partial epilepsies: a review. Epilepsia 30: 107-111.
    • (1989) Epilepsia , vol.30 , pp. 107-111
    • Ottman, R.1
  • 5
    • 36949007589 scopus 로고    scopus 로고
    • Autosomal dominant inheritance of centrotemporal sharp waves in rolandic epilepsy families
    • doi: 10.1111/j.1528-1167.2007.01221.x
    • Bali B, Kull LL, Strug LJ, Clarke T, Murphy PL, et al. (2007) Autosomal dominant inheritance of centrotemporal sharp waves in rolandic epilepsy families. Epilepsia 48: 2266-2272 doi:10.1111/j.1528-1167.2007.01221.x.
    • (2007) Epilepsia , vol.48 , pp. 2266-2272
    • Bali, B.1    Kull, L.L.2    Strug, L.J.3    Clarke, T.4    Murphy, P.L.5
  • 6
    • 84856318183 scopus 로고    scopus 로고
    • Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes
    • doi: 10.1111/j.1528-1167.2011.03368.x
    • Vears DF, Tsai M-H, Sadleir LG, Grinton BE, Lillywhite LM, et al. (2012) Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes. Epilepsia 53: 319-324 doi:10.1111/j.1528-1167.2011.03368.x.
    • (2012) Epilepsia , vol.53 , pp. 319-324
    • Vears, D.F.1    Tsai, M.-H.2    Sadleir, L.G.3    Grinton, B.E.4    Lillywhite, L.M.5
  • 7
    • 0031649494 scopus 로고    scopus 로고
    • Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14
    • Neubauer BA, Fiedler B, Himmelein B, Kämpfer F, Lässker U, et al. (1998) Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14. Neurology 51: 1608-1612.
    • (1998) Neurology , vol.51 , pp. 1608-1612
    • Neubauer, B.A.1    Fiedler, B.2    Himmelein, B.3    Kämpfer, F.4    Lässker, U.5
  • 8
    • 0033055535 scopus 로고    scopus 로고
    • Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2
    • Guerrini R, Bonanni P, Nardocci N, Parmeggiani L, Piccirilli M, et al. (1999) Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol 45: 344-352.
    • (1999) Ann Neurol , vol.45 , pp. 344-352
    • Guerrini, R.1    Bonanni, P.2    Nardocci, N.3    Parmeggiani, L.4    Piccirilli, M.5
  • 9
    • 48449092930 scopus 로고    scopus 로고
    • KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes
    • doi: 10.1212/01.wnl.0000317090.92185.ec
    • Neubauer BA, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, et al. (2008) KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology 71: 177-183 doi:10.1212/01.wnl.0000317090.92185.ec.
    • (2008) Neurology , vol.71 , pp. 177-183
    • Neubauer, B.A.1    Waldegger, S.2    Heinzinger, J.3    Hahn, A.4    Kurlemann, G.5
  • 10
    • 33645115357 scopus 로고    scopus 로고
    • SRPX2 mutations in disorders of language cortex and cognition
    • doi: 10.1093/hmg/ddl035
    • Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, et al. (2006) SRPX2 mutations in disorders of language cortex and cognition. Hum Mol Genet 15: 1195-1207 doi:10.1093/hmg/ddl035.
    • (2006) Hum Mol Genet , vol.15 , pp. 1195-1207
    • Roll, P.1    Rudolf, G.2    Pereira, S.3    Royer, B.4    Scheffer, I.E.5
  • 11
    • 69249246953 scopus 로고    scopus 로고
    • Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4)
    • doi: 10.1038/ejhg.2008.267
    • Strug LJ, Clarke T, Chiang T, Chien M, Baskurt Z, et al. (2009) Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). Eur J Hum Genet 17: 1171-1181 doi:10.1038/ejhg.2008.267.
    • (2009) Eur J Hum Genet , vol.17 , pp. 1171-1181
    • Strug, L.J.1    Clarke, T.2    Chiang, T.3    Chien, M.4    Baskurt, Z.5
  • 12
    • 78049329316 scopus 로고    scopus 로고
    • Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
    • doi: 10.1038/ng.677
    • Endele S, Rosenberger G, Geider K, Popp B, Tamer C, et al. (2010) Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 42: 1021-1026 doi:10.1038/ng.677.
    • (2010) Nat Genet , vol.42 , pp. 1021-1026
    • Endele, S.1    Rosenberger, G.2    Geider, K.3    Popp, B.4    Tamer, C.5
  • 13
    • 3042762344 scopus 로고    scopus 로고
    • The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene
    • doi: 10.1007/s10038-004-0145-4
    • Bhalla K, Phillips HA, Crawford J, McKenzie OLD, Mulley JC, et al. (2004) The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. J Hum Genet 49: 308-311 doi:10.1007/s10038-004-0145-4.
    • (2004) J Hum Genet , vol.49 , pp. 308-311
    • Bhalla, K.1    Phillips, H.A.2    Crawford, J.3    McKenzie, O.L.D.4    Mulley, J.C.5
  • 14
    • 35148885611 scopus 로고    scopus 로고
    • Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism
    • doi: 10.1002/ajmg.b.30530
    • Martin CL, Duvall JA, Ilkin Y, Simon JS, Arreaza MG, et al. (2007) Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism. Am J Med Genet B Neuropsychiatr Genet 144B: 869-876 doi:10.1002/ajmg.b.30530.
    • (2007) Am J Med Genet B Neuropsychiatr Genet , vol.144 B , pp. 869-876
    • Martin, C.L.1    Duvall, J.A.2    Ilkin, Y.3    Simon, J.S.4    Arreaza, M.G.5
  • 15
    • 84655176643 scopus 로고    scopus 로고
    • Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
    • doi: 10.1038/ng.1013
    • Elia J, Glessner JT, Wang K, Takahashi N, Shtir CJ, et al. (2012) Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet 44: 78-84 doi:10.1038/ng.1013.
    • (2012) Nat Genet , vol.44 , pp. 78-84
    • Elia, J.1    Glessner, J.T.2    Wang, K.3    Takahashi, N.4    Shtir, C.J.5
  • 16
    • 84862641414 scopus 로고    scopus 로고
    • Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis
    • doi: 10.1002/ajmg.a.35396
    • Davis LK, Maltman N, Mosconi MW, Macmillan C, Schmitt L, et al. (2012) Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis. Am J Med Genet A 158A: 1654-1661 doi:10.1002/ajmg.a.35396.
    • (2012) Am J Med Genet A , vol.158 A , pp. 1654-1661
    • Davis, L.K.1    Maltman, N.2    Mosconi, M.W.3    Macmillan, C.4    Schmitt, L.5
  • 17
    • 84873407345 scopus 로고    scopus 로고
    • Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy
    • doi: 10.1111/epi.12084
    • Lal D, Trucks H, Møller RS, Hjalgrim H, Koeleman BPC, et al. (2013) Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy. Epilepsia 54: 265-271 doi:10.1111/epi.12084.
    • (2013) Epilepsia , vol.54 , pp. 265-271
    • Lal, D.1    Trucks, H.2    Møller, R.S.3    Hjalgrim, H.4    Koeleman, B.P.C.5
  • 18
    • 83755188047 scopus 로고    scopus 로고
    • Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A
    • doi: 10.1016/j.mcn.2011.10.005
    • O'Brien JE, Drews VL, Jones JM, Dugas JC, Barres BA, et al. (2012) Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A. Mol Cell Neurosci 49: 120-126 doi:10.1016/j.mcn.2011.10.005.
    • (2012) Mol Cell Neurosci , vol.49 , pp. 120-126
    • O'Brien, J.E.1    Drews, V.L.2    Jones, J.M.3    Dugas, J.C.4    Barres, B.A.5
  • 19
    • 84866390941 scopus 로고    scopus 로고
    • RBFOX1 regulates both splicing and transcriptional networks in human neuronal development
    • doi: 10.1093/hmg/dds240
    • Fogel BL, Wexler E, Wahnich A, Friedrich T, Vijayendran C, et al. (2012) RBFOX1 regulates both splicing and transcriptional networks in human neuronal development. um Mol Genet 21: 4171-4186 doi:10.1093/hmg/dds240.
    • (2012) Um Mol Genet , vol.21 , pp. 4171-4186
    • Fogel, B.L.1    Wexler, E.2    Wahnich, A.3    Friedrich, T.4    Vijayendran, C.5
  • 20
    • 75149194407 scopus 로고    scopus 로고
    • Autoregulation of Fox protein expression to produce dominant negative splicing factors
    • doi: 10.1261/rna.1838210
    • Damianov A, Black DL, (2010) Autoregulation of Fox protein expression to produce dominant negative splicing factors. RNA 16: 405-416 doi:10.1261/rna.1838210.
    • (2010) RNA , vol.16 , pp. 405-416
    • Damianov, A.1    Black, D.L.2
  • 21
    • 79959679062 scopus 로고    scopus 로고
    • NeuN/Rbfox3 nuclear and cytoplasmic isoforms differentially regulate alternative splicing and nonsense-mediated decay of Rbfox2
    • doi: 10.1371/journal.pone.0021585
    • Dredge BK, Jensen KB, (2011) NeuN/Rbfox3 nuclear and cytoplasmic isoforms differentially regulate alternative splicing and nonsense-mediated decay of Rbfox2. PLoS ONE 6: e21585 doi:10.1371/journal.pone.0021585.
    • (2011) PLoS ONE , vol.6
    • Dredge, B.K.1    Jensen, K.B.2
  • 22
    • 0017254888 scopus 로고
    • Electrocorticography of waves associated with eye movements in man during wakefulness
    • Calvet AF, Bancaud J, (1976) Electrocorticography of waves associated with eye movements in man during wakefulness. Electroencephalogr Clin Neurophysiol 40: 457-469.
    • (1976) Electroencephalogr Clin Neurophysiol , vol.40 , pp. 457-469
    • Calvet, A.F.1    Bancaud, J.2
  • 23
    • 0019838318 scopus 로고
    • [Acquired aphasia in epileptic children-four cases with electrical infraclinic status epilepticus during sleep (author's transl)]
    • Billard C, Autret A, Laffont F, De Giovanni E, Lucas B, et al. (1981) [Acquired aphasia in epileptic children-four cases with electrical infraclinic status epilepticus during sleep (author's transl)]. Rev Electroencephalogr Neurophysiol Clin 11: 457-467.
    • (1981) Rev Electroencephalogr Neurophysiol Clin , vol.11 , pp. 457-467
    • Billard, C.1    Autret, A.2    Laffont, F.3    De Giovanni, E.4    Lucas, B.5
  • 24
    • 0026059588 scopus 로고
    • Epilepsy with continuous spike-waves during slow sleep and its treatment
    • Yasuhara A, Yoshida H, Hatanaka T, Sugimoto T, Kobayashi Y, et al. (1991) Epilepsy with continuous spike-waves during slow sleep and its treatment. Epilepsia 32: 59-62.
    • (1991) Epilepsia , vol.32 , pp. 59-62
    • Yasuhara, A.1    Yoshida, H.2    Hatanaka, T.3    Sugimoto, T.4    Kobayashi, Y.5
  • 25
    • 0020080213 scopus 로고
    • Atypical benign partial epilepsy of childhood
    • Aicardi J, Chevrie J (1982) Atypical benign partial epilepsy of childhood. Dev Med Child Neurol 24, 281-292.
    • (1982) Dev Med Child Neurol , vol.24 , pp. 281-292
    • Aicardi, J.1    Chevrie, J.2
  • 26
    • 0035072742 scopus 로고    scopus 로고
    • Atypical "benign" partial epilepsy of childhood or pseudo-lennox syndrome. Part II: family study. Neuropediatrics
    • Doose H, Hahn A, Neubauer BA, Pistohl J, Stephani U, (2001) Atypical "benign" partial epilepsy of childhood or pseudo-lennox syndrome. Part II: family study. Neuropediatrics. Feb 32(1): 9-13.
    • (2001) Feb , vol.32 , Issue.1 , pp. 9-13
    • Doose, H.1    Hahn, A.2    Neubauer, B.A.3    Pistohl, J.4    Stephani, U.5
  • 27
    • 0035070122 scopus 로고    scopus 로고
    • Atypical Benign Partial Epilepsy or "Pseudo-Lennox Syndrome"
    • Hahn A, Pistohl J, Neubauer BA, Stephani U, (2001) Atypical Benign Partial Epilepsy or "Pseudo-Lennox Syndrome". Part I: Symptomatology and Long-Term Prognosis. Neuropediatrics 32: 1-8.
    • (2001) Neuropediatrics , vol.32 , pp. 1-8
    • Hahn, A.1    Pistohl, J.2    Neubauer, B.A.3    Stephani, U.4
  • 28
    • 35948984173 scopus 로고    scopus 로고
    • PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
    • doi: 10.1101/gr.6861907
    • Wang K, Li M, Hadley D, Liu R, Glessner J, et al. (2007) PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17: 1665-1674 doi:10.1101/gr.6861907.
    • (2007) Genome Res , vol.17 , pp. 1665-1674
    • Wang, K.1    Li, M.2    Hadley, D.3    Liu, R.4    Glessner, J.5
  • 29
    • 84862950521 scopus 로고    scopus 로고
    • Mechanisms of activation and repression by the alternative splicing factors RBFOX1/2
    • doi: 10.1261/rna.030486.111
    • Sun S, Zhang Z, Fregoso O, Krainer AR, (2012) Mechanisms of activation and repression by the alternative splicing factors RBFOX1/2. RNA 18: 274-283 doi:10.1261/rna.030486.111.
    • (2012) RNA , vol.18 , pp. 274-283
    • Sun, S.1    Zhang, Z.2    Fregoso, O.3    Krainer, A.R.4
  • 30
    • 17544367787 scopus 로고    scopus 로고
    • Tissue-dependent isoforms of mammalian Fox-1 homologs are associated with tissue-specific splicing activities
    • doi: 10.1093/nar/gki338
    • Nakahata S, Kawamoto S, (2005) Tissue-dependent isoforms of mammalian Fox-1 homologs are associated with tissue-specific splicing activities. Nucleic Acids Res 33: 2078-2089 doi:10.1093/nar/gki338.
    • (2005) Nucleic Acids Res , vol.33 , pp. 2078-2089
    • Nakahata, S.1    Kawamoto, S.2
  • 31
    • 70349620615 scopus 로고    scopus 로고
    • An inducible change in Fox-1/A2BP1 splicing modulates the alternative splicing of downstream neuronal target exons
    • doi: 10.1101/gad.1837009
    • Lee J-A, Tang Z-Z, Black DL, (2009) An inducible change in Fox-1/A2BP1 splicing modulates the alternative splicing of downstream neuronal target exons. Genes Dev 23: 2284-2293 doi:10.1101/gad.1837009.
    • (2009) Genes Dev , vol.23 , pp. 2284-2293
    • Lee, J.-A.1    Tang, Z.-Z.2    Black, D.L.3
  • 32
    • 79953059357 scopus 로고    scopus 로고
    • Epilepsy and neurodevelopmental disorders of language
    • doi: 10.1097/WCO.0b013e328344634a
    • Pal DK, (2011) Epilepsy and neurodevelopmental disorders of language. Curr Opin Neurol 24: 126-131 doi:10.1097/WCO.0b013e328344634a.
    • (2011) Curr Opin Neurol , vol.24 , pp. 126-131
    • Pal, D.K.1
  • 33
    • 79959726422 scopus 로고    scopus 로고
    • The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain
    • doi 10.1038/ng.841
    • Gehman LT, Stoilov P, Maguire J, Damianov A, Lin C-H, et al. (2011) The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain. Nat Genet 43: 706-711 doi:10.1038/ng.841.
    • (2011) Nat Genet , vol.43 , pp. 706-711
    • Gehman, L.T.1    Stoilov, P.2    Maguire, J.3    Damianov, A.4    Lin, C.-H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.