메뉴 건너뛰기




Volumn 42, Issue 5, 2010, Pages 333-338

The topics of brain malformation and epilepsy - Age-dependent epileptic encephalopathies and interneuronopathies

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; SYNTAXIN BINDING PROTEIN 1; UNCLASSIFIED DRUG; 4 AMINOBUTYRIC ACID; ARX PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; MUNC18 PROTEIN; PEPTIDE; POLYALANINE; STXBP1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

EID: 77957015635     PISSN: 00290831     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (1)

References (20)
  • 1
    • 11144331051 scopus 로고    scopus 로고
    • Accelerated evolution of nervous system genes in the origin of Homo sapiens
    • Dorus S, Vallender EJ, Evans PD, et al. Accelerated evolution of nervous system genes in the origin of Homo sapiens. Cell 2004; 119:1027-40.
    • (2004) Cell , vol.119 , pp. 1027-1040
    • Dorus, S.1    Vallender, E.J.2    Evans, P.D.3
  • 2
    • 77956987162 scopus 로고    scopus 로고
    • Japanese source
  • 3
    • 0031194810 scopus 로고    scopus 로고
    • Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate
    • Miura H, Yanazawa M, Kato K, Kitamura K. Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate. Mech Dev 1997;65: 99-109.
    • (1997) Mech Dev , vol.65 , pp. 99-109
    • Miura, H.1    Yanazawa, M.2    Kato, K.3    Kitamura, K.4
  • 4
    • 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;32:359-69.
    • (2002) Nat Genet , vol.32 , pp. 359-369
    • Kitamura, K.1    Yanazawa, M.2    Sugiyama, N.3
  • 5
    • 0142091542 scopus 로고    scopus 로고
    • Opposing actions of Arx and Pax4 in endocrine pancreas development
    • Collombat P, Mansouri A, Hecksher-Sorensen J, et al. Opposing actions of Arx and Pax4 in endocrine pancreas development. Genes Dev 2003;17:2591-603.
    • (2003) Genes Dev , vol.17 , pp. 2591-2603
    • Collombat, P.1    Mansouri, A.2    Hecksher-Sorensen, J.3
  • 6
    • 20044365419 scopus 로고    scopus 로고
    • X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy:proposal for a new term, "interneuronopathy"
    • Kato M, Dobyns WB. X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy:proposal for a new term, "interneuronopathy". J Child Neurol 2005;20:392-7.
    • (2005) J Child Neurol , vol.20 , pp. 392-397
    • Kato, M.1    Dobyns, W.B.2
  • 7
    • 0037390829 scopus 로고    scopus 로고
    • Lissencephaly and the molecular basis of neuronal migration
    • Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet 2003;12 Spec No 1:R89-96.
    • (2003) Hum Mol Genet , vol.12 , Issue.SPEC NO 1
    • Kato, M.1    Dobyns, W.B.2
  • 8
    • 67649391197 scopus 로고    scopus 로고
    • Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females
    • Marsh E, Fulp C, Gomez E, et al. Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. Brain 2009;132:1563-76.
    • (2009) Brain , vol.132 , pp. 1563-1576
    • Marsh, E.1    Fulp, C.2    Gomez, E.3
  • 9
    • 10744222257 scopus 로고    scopus 로고
    • Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation
    • Kato M, Das S, Petras K, et al. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat 2004;23:147-59.
    • (2004) Hum Mutat , vol.23 , pp. 147-159
    • Kato, M.1    Das, S.2    Petras, K.3
  • 10
    • 0038458487 scopus 로고    scopus 로고
    • Polyalanine expansion of ARX associated with cryptogenic West syndrome
    • Kato M, Das S, Petras K, Sawaishi Y, Dobyns WB. Polyalanine expansion of ARX associated with cryptogenic West syndrome. Neurology 2003;61:267-76.
    • (2003) Neurology , vol.61 , pp. 267-276
    • Kato, M.1    Das, S.2    Petras, K.3    Sawaishi, Y.4    Dobyns, W.B.5
  • 11
    • 33750599689 scopus 로고    scopus 로고
    • A new paradigm for West syndrome based on molecular and cell biology
    • Kato M. A new paradigm for West syndrome based on molecular and cell biology. Epilepsy Res 2006;70 (suppl 1):S87-95.
    • (2006) Epilepsy Res , vol.70 , Issue.SUPPL. 1
    • Kato, M.1
  • 12
    • 34547812084 scopus 로고    scopus 로고
    • A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)
    • Kato M, Saitoh S, Kamei A, et al. A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet 2007;81:361-6.
    • (2007) Am J Hum Genet , vol.81 , pp. 361-366
    • Kato, M.1    Saitoh, S.2    Kamei, A.3
  • 14
    • 34548065480 scopus 로고    scopus 로고
    • Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus
    • Guerrini R, Moro F, Kato M, et al. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Neurology 2007;69:427-33.
    • (2007) Neurology , vol.69 , pp. 427-433
    • Guerrini, R.1    Moro, F.2    Kato, M.3
  • 15
    • 77957000091 scopus 로고    scopus 로고
    • Genetic etiology of age-dependent epileptic encephalopathy in infancy:longer polyalanine expansion in ARX causes earlier onset and more severe phenotype
    • Takahashi T, Fukuyama Y, eds, Montrouge:John Libbey Eurotext
    • Kato M, Saitoh S, Kamei A, et al. Genetic etiology of age-dependent epileptic encephalopathy in infancy:longer polyalanine expansion in ARX causes earlier onset and more severe phenotype. In: Takahashi T, Fukuyama Y, eds, Biology of seizure susceptibility in developing brain. Montrouge:John Libbey Eurotext, 2008:75-86.
    • (2008) Biology of Seizure Susceptibility in Developing Brain , pp. 75-86
    • Kato, M.1    Saitoh, S.2    Kamei, A.3
  • 16
    • 10744223971 scopus 로고    scopus 로고
    • Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains
    • Lavoie H, Debeane F, Trinh QD, et al. Polymorphism, shared functions and convergent evolution of genes with sequences coding for polyalanine domains. Hum Mol Genet 2003;12:2967-79.
    • (2003) Hum Mol Genet , vol.12 , pp. 2967-2979
    • Lavoie, H.1    Debeane, F.2    Trinh, Q.D.3
  • 17
    • 8444221584 scopus 로고    scopus 로고
    • A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death
    • Nasrallah IM, Minarcik JC, Golden JA. A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. J Cell Biol 2004;167:411-6.
    • (2004) J Cell Biol , vol.167 , pp. 411-416
    • Nasrallah, I.M.1    Minarcik, J.C.2    Golden, J.A.3
  • 18
    • 34247466477 scopus 로고    scopus 로고
    • Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor
    • McKenzie O, Ponte I, Mangelsdorf M, et al. Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor. Neuroscience 2007;146:236-47.
    • (2007) Neuroscience , vol.146 , pp. 236-247
    • McKenzie, O.1    Ponte, I.2    Mangelsdorf, M.3
  • 19
    • 67650478655 scopus 로고    scopus 로고
    • A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx (GCG) 10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment
    • Price MG, Yoo JW, Burgess DL, et al. A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx (GCG) 10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment. J Neurosci 2009;29:8752-63.
    • (2009) J Neurosci , vol.29 , pp. 8752-8763
    • Price, M.G.1    Yoo, J.W.2    Burgess, D.L.3
  • 20
    • 44349096827 scopus 로고    scopus 로고
    • De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
    • Saitsu H, Kato M, Mizuguchi T, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet 2008;40:782-8.
    • (2008) Nat Genet , vol.40 , pp. 782-788
    • Saitsu, H.1    Kato, M.2    Mizuguchi, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.