메뉴 건너뛰기




Volumn 20, Issue 4, 2005, Pages 300-303

Cortical malformation and pediatric epilepsy: A molecular gentic approach

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; BRAIN CORTEX; BRAIN DEVELOPMENT; BRAIN MALFORMATION; CELL FATE; CELL MIGRATION; CELL PROLIFERATION; CEREBRAL PALSY; CHILD; EPILEPSY; EPILEPTOGENESIS; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; HUMAN; INCIDENCE; MICROCEPHALY; MICROGYRIA; MOLECULAR GENETICS; MOTOR DYSFUNCTION; NERVE CELL; NEURAL STEM CELL; PRIORITY JOURNAL; REGULATORY MECHANISM; REVIEW;

EID: 20044391618     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738050200040501     Document Type: Review
Times cited : (8)

References (38)
  • 1
    • 0026339811 scopus 로고
    • Genetic factors in epileptic seizures: Evidence from a large twin population
    • Sillanpaa M, Koskenvuo M, Romanov K, Kaprio J: Genetic factors in epileptic seizures: Evidence from a large twin population. Acta Neurol Scand 1991;84:523-526.
    • (1991) Acta Neurol. Scand. , vol.84 , pp. 523-526
    • Sillanpaa, M.1    Koskenvuo, M.2    Romanov, K.3    Kaprio, J.4
  • 2
    • 0042932513 scopus 로고    scopus 로고
    • Epileptic seizures and syndromes in twins: The importance of genetic factors
    • Kjeldsen MJ, Corey LA, Christensen K, Friis ML: Epileptic seizures and syndromes in twins: The importance of genetic factors. Epilepsy Res 2003;55:137-146.
    • (2003) Epilepsy Res. , vol.55 , pp. 137-146
    • Kjeldsen, M.J.1    Corey, L.A.2    Christensen, K.3    Friis, M.L.4
  • 3
    • 2342629242 scopus 로고    scopus 로고
    • Molecular basis of inherited epilepsy
    • George AL Jr: Molecular basis of inherited epilepsy. Arch Neurol 2004;61:473-478.
    • (2004) Arch. Neurol. , vol.61 , pp. 473-478
    • George Jr., A.L.1
  • 4
    • 2342598414 scopus 로고    scopus 로고
    • Genetic mechanisms that underlie epilepsy
    • Steinlein OK: Genetic mechanisms that underlie epilepsy. Nat Rev Neurosci 2004;5:400-408.
    • (2004) Nat. Rev. Neurosci. , vol.5 , pp. 400-408
    • Steinlein, O.K.1
  • 5
    • 0036844387 scopus 로고    scopus 로고
    • Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
    • Kitamura K, Yanazawa M, Sugiyama N, et al: Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 2002;32:359-369.
    • (2002) Nat. Genet. , vol.32 , pp. 359-369
    • Kitamura, K.1    Yanazawa, M.2    Sugiyama, N.3
  • 6
    • 9144274368 scopus 로고    scopus 로고
    • Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex
    • Sheen VL, Ganesh VS, Topcu M, et al: Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet 2004;36:69-76.
    • (2004) Nat. Genet. , vol.36 , pp. 69-76
    • Sheen, V.L.1    Ganesh, V.S.2    Topcu, M.3
  • 7
    • 12144286654 scopus 로고    scopus 로고
    • G protein-coupled receptor-dependent development of human frontal cortex
    • Piao X, Hill RS, Bodell A, et al: G protein-coupled receptor-dependent development of human frontal cortex. Science 2004;303:2033-2036.
    • (2004) Science , vol.303 , pp. 2033-2036
    • Piao, X.1    Hill, R.S.2    Bodell, A.3
  • 8
    • 0033136701 scopus 로고    scopus 로고
    • Genetic malformations of the human cerebral cortex
    • Walsh CA: Genetic malformations of the human cerebral cortex. Neuron 1999;23:19-29.
    • (1999) Neuron , vol.23 , pp. 19-29
    • Walsh, C.A.1
  • 9
    • 0034794713 scopus 로고    scopus 로고
    • Epilepsy and genetic malformations of the cerebral cortex
    • Guerrini R, Carrozzo R: Epilepsy and genetic malformations of the cerebral cortex. Am J Med Genet 2001;106:160-173.
    • (2001) Am. J. Med. Genet. , vol.106 , pp. 160-173
    • Guerrini, R.1    Carrozzo, R.2
  • 10
    • 0035066971 scopus 로고    scopus 로고
    • Molecular genetics of human microcephaly
    • Mochida GH, Walsh CA: Molecular genetics of human microcephaly. Curr Opin Neurol 2001;14:151-156.
    • (2001) Curr. Opin. Neurol. , vol.14 , pp. 151-156
    • Mochida, G.H.1    Walsh, C.A.2
  • 11
    • 18644367387 scopus 로고    scopus 로고
    • Autosomal recessive primary microcephaly: An analysis of locus heterogeneity and phenotypic variation
    • Roberts E, Hampshire DJ, Pattison L, et al: Autosomal recessive primary microcephaly: An analysis of locus heterogeneity and phenotypic variation. J Med Genet 2002;39:718-721.
    • (2002) J. Med. Genet. , vol.39 , pp. 718-721
    • Roberts, E.1    Hampshire, D.J.2    Pattison, L.3
  • 13
    • 0032231397 scopus 로고    scopus 로고
    • Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter
    • Jackson AP, McHale DP, Campbell DA, et al: Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet 1998;63:541-546.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 541-546
    • Jackson, A.P.1    McHale, D.P.2    Campbell, D.A.3
  • 14
    • 0032752596 scopus 로고    scopus 로고
    • The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2
    • Roberts E, Jackson AP, Carradice AC, et al: The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. Eur J Hum Genet 1999;7:815-820.
    • (1999) Eur. J. Hum. Genet. , vol.7 , pp. 815-820
    • Roberts, E.1    Jackson, A.P.2    Carradice, A.C.3
  • 15
    • 0033361792 scopus 로고    scopus 로고
    • Primary autosomal recessive microcephaly: Homozygosity mapping of MCPH4 to chromosome 15
    • Jamieson CR, Govaerts C, Abramowicz MJ: Primary autosomal recessive microcephaly: Homozygosity mapping of MCPH4 to chromosome 15. Am J Hum Genet 1999;65:1465-1469.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1465-1469
    • Jamieson, C.R.1    Govaerts, C.2    Abramowicz, M.J.3
  • 16
    • 0033912946 scopus 로고    scopus 로고
    • A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34
    • Moynihan L, Jackson AP, Roberts E, et al: A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34. Am J Hum Genet 2000;66:724-727.
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 724-727
    • Moynihan, L.1    Jackson, A.P.2    Roberts, E.3
  • 17
    • 0033659637 scopus 로고    scopus 로고
    • Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32
    • Jamieson CR, Fryns JP, Jacobs J, et al: Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. Am J Hum Genet 2000;67:1575-1577.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 1575-1577
    • Jamieson, C.R.1    Fryns, J.P.2    Jacobs, J.3
  • 18
    • 0033660432 scopus 로고    scopus 로고
    • A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31
    • Pattison L, Crow YJ, Deeble VJ, et al: A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31. Am J Hum Genet 2000;67:1578-1580.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 1578-1580
    • Pattison, L.1    Crow, Y.J.2    Deeble, V.J.3
  • 19
    • 0038163514 scopus 로고    scopus 로고
    • A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2
    • Leal GF, Roberts E, Silva EO, et al: A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2. J Med Genet 2003;40:540-542.
    • (2003) J. Med. Genet. , vol.40 , pp. 540-542
    • Leal, G.F.1    Roberts, E.2    Silva, E.O.3
  • 20
    • 0036302105 scopus 로고    scopus 로고
    • Identification of microcephalin, a protein implicated in determining the size of the human brain
    • Jackson AP, Eastwood H, Bell SM, et al: Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet 2002;71:136-142.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 136-142
    • Jackson, A.P.1    Eastwood, H.2    Bell, S.M.3
  • 21
    • 3242657086 scopus 로고    scopus 로고
    • Mutations in microcephalin cause aberrant regulation of chromosome condensation
    • Trimborn M, Bell SM, Felix C, et al: Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet 2004;75:261-266.
    • (2004) Am. J. Hum. Genet. , vol.75 , pp. 261-266
    • Trimborn, M.1    Bell, S.M.2    Felix, C.3
  • 22
    • 0036787796 scopus 로고    scopus 로고
    • ASPM is a major determinant of cerebral cortical size
    • Bond J, Roberts E, Mochida GH, et al: ASPM is a major determinant of cerebral cortical size. Nat Genet 2002;32:316-320.
    • (2002) Nat. Genet. , vol.32 , pp. 316-320
    • Bond, J.1    Roberts, E.2    Mochida, G.H.3
  • 23
    • 0033548590 scopus 로고    scopus 로고
    • Abnormal spindle protein, Asp, and the integrity of mitotic centrosomal microtubule organizing centers
    • do Carmo Avides M, Glover DM: Abnormal spindle protein, Asp, and the integrity of mitotic centrosomal microtubule organizing centers. Science 1999;283:1733-1735.
    • (1999) Science , vol.283 , pp. 1733-1735
    • do Carmo Avides, M.1    Glover, D.M.2
  • 24
    • 0030945196 scopus 로고    scopus 로고
    • Sequence motifs for calmodulin recognition
    • Rhoads AR, Friedberg F: Sequence motifs for calmodulin recognition. FASEB J 1997;11:331-340.
    • (1997) FASEB J. , vol.11 , pp. 331-340
    • Rhoads, A.R.1    Friedberg, F.2
  • 25
    • 0037138403 scopus 로고    scopus 로고
    • Calmodulin signaling via the IQ motif
    • Bahler M, Rhoads A: Calmodulin signaling via the IQ motif. FEBS Lett 2002;513:107-113.
    • (2002) FEBS Lett. , vol.513 , pp. 107-113
    • Bahler, M.1    Rhoads, A.2
  • 26
    • 0347992009 scopus 로고    scopus 로고
    • Evolution of the human ASPM gene, a major determinant of brain size
    • Zhang J: Evolution of the human ASPM gene, a major determinant of brain size. Genetics 2003;165:2063-2070.
    • (2003) Genetics , vol.165 , pp. 2063-2070
    • Zhang, J.1
  • 27
    • 1542329549 scopus 로고    scopus 로고
    • Adaptive evolution of ASPM, a major determinant of cerebral cortical size in humans
    • Evans PD, Anderson JR, Vallender EJ, et al: Adaptive evolution of ASPM, a major determinant of cerebral cortical size in humans. Hum Mol Genet 2004;13:489-494.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 489-494
    • Evans, P.D.1    Anderson, J.R.2    Vallender, E.J.3
  • 28
    • 19344374302 scopus 로고    scopus 로고
    • Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion
    • Kouprina N, Pavlicek A, Mochida GH, et al: Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. PLoS Biol 2004;2:653-663.
    • (2004) PLoS Biol. , vol.2 , pp. 653-663
    • Kouprina, N.1    Pavlicek, A.2    Mochida, G.H.3
  • 29
    • 2942744749 scopus 로고    scopus 로고
    • Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size
    • Evans PD, Anderson JR, Vallender EJ, et al: Reconstructing the evolutionary history of microcephalin, a gene controlling human brain size. Hum Mol Genet 2004;13:1139-1145.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 1139-1145
    • Evans, P.D.1    Anderson, J.R.2    Vallender, E.J.3
  • 30
    • 2942737273 scopus 로고    scopus 로고
    • Molecular evolution of microcephalin, a gene determining human brain size
    • Wang YQ, Su B: Molecular evolution of microcephalin, a gene determining human brain size. Hum Mol Genet 2004;13:1131-1137.
    • (2004) Hum. Mol. Genet. , vol.13 , pp. 1131-1137
    • Wang, Y.Q.1    Su, B.2
  • 31
    • 0028968605 scopus 로고
    • Correlation of prenatal events with the development of polymicrogyria
    • Barkovich AJ, Rowley H, Bollen A: Correlation of prenatal events with the development of polymicrogyria. AJNR Am J Neuroradiol 1995;16:822-827.
    • (1995) AJNR Am. J. Neuroradiol. , vol.16 , pp. 822-827
    • Barkovich, A.J.1    Rowley, H.2    Bollen, A.3
  • 32
    • 0025648880 scopus 로고
    • Ataxia, developmental delay and an extensive neuronal migration abnormality in 2 siblings
    • Harbord MG, Boyd S, Hall-Craggs MA, et al: Ataxia, developmental delay and an extensive neuronal migration abnormality in 2 siblings. Neuropediatrics 1990;21:218-221.
    • (1990) Neuropediatrics , vol.21 , pp. 218-221
    • Harbord, M.G.1    Boyd, S.2    Hall-Craggs, M.A.3
  • 34
    • 0030959134 scopus 로고    scopus 로고
    • Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: A new syndrome?
    • Farah S, Sabry MA, Khuraibet A, et al: Lissencephaly associated with cerebellar hypoplasia and myoclonic epilepsy in a Bedouin kindred: A new syndrome? Clin Genet 1997;51:326-330.
    • (1997) Clin. Genet. , vol.51 , pp. 326-330
    • Farah, S.1    Sabry, M.A.2    Khuraibet, A.3
  • 35
    • 0034060372 scopus 로고    scopus 로고
    • Bilateral frontoparietal polymicrogyria and epilepsy
    • Sztriha L, Nork M: Bilateral frontoparietal polymicrogyria and epilepsy. Pediatr Neurol 2000;22:240-243.
    • (2000) Pediatr. Neurol. , vol.22 , pp. 240-243
    • Sztriha, L.1    Nork, M.2
  • 36
    • 0038416095 scopus 로고    scopus 로고
    • Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16
    • Chang BS, Piao X, Bodell A, et al: Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol 2003;53:596-606.
    • (2003) Ann. Neurol. , vol.53 , pp. 596-606
    • Chang, B.S.1    Piao, X.2    Bodell, A.3
  • 37
    • 18344389160 scopus 로고    scopus 로고
    • An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21
    • Piao X, Basel-Vanagaite L, Straussberg R, et al: An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. Am J Hum Genet 2002;70:1028-1033.
    • (2002) Am. J. Hum. Genet. , vol.70 , pp. 1028-1033
    • Piao, X.1    Basel-Vanagaite, L.2    Straussberg, R.3
  • 38
    • 0032987833 scopus 로고    scopus 로고
    • Focal epileptogenesis in a rat model of polymicrogyria
    • Jacobs KM, Hwang BJ, Prince DA: Focal epileptogenesis in a rat model of polymicrogyria. J Neurophysiol 1999;81:159-173.
    • (1999) J. Neurophysiol. , vol.81 , pp. 159-173
    • Jacobs, K.M.1    Hwang, B.J.2    Prince, D.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.