메뉴 건너뛰기




Volumn 3, Issue 3, 2006, Pages 131-135

Lafora disease

Author keywords

EPM2A; Lafora bodies; Lafora disease; NHLRC1; Progressive myoclonic epilepsies; Spike wave discharges

Indexed keywords

ANTICONVULSIVE AGENT; GLUCOSE; PHENYTOIN; PROTEIN; STEROID;

EID: 33749344505     PISSN: 15452913     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (3)

References (15)
  • 1
    • 0000665044 scopus 로고
    • Über das corkommen amyloider körperchen im innern der ganglienzellen; zugliech ein zum studium der amyloiden substanz im nervensystem
    • Lafora GR. Über das Corkommen amyloider Körperchen im Innern der Ganglienzellen; zugliech Ein zum Studium der amyloiden Substanz im Nervensystem. Virchows Arch. 1911;205:295-303.
    • (1911) Virchows Arch , vol.205 , pp. 295-303
    • Lafora, G.R.1
  • 2
    • 51849175000 scopus 로고
    • Beitrag zur histogpathologie der myoklonischen epilepsie
    • Lafora GR, Glueck B. Beitrag zur Histogpathologie der myoklonischen Epilepsie. Z Gesamte Neurol Psychiatr. 1911;6:1-14.
    • (1911) Z Gesamte Neurol Psychiatr , vol.6 , pp. 1-14
    • Lafora, G.R.1    Glueck, B.2
  • 3
    • 15044357259 scopus 로고    scopus 로고
    • Progressive myoclonic epilepsies: A review of genetic and therapeutic aspects
    • Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol. 2005;4:239-248.
    • (2005) Lancet Neurol , vol.4 , pp. 239-248
    • Shahwan, A.1    Farrell, M.2    Delanty, N.3
  • 4
    • 0025209930 scopus 로고
    • Longitudinal clinicoelectrophysiological study of a case of Lafora Disease proven by skin biopsy
    • Kobayashi K, Iyoda K, Ohsutka Y, et al. Longitudinal clinicoelectrophysiological study of a case of Lafora Disease proven by skin biopsy. Epilepsia. 1990;31:194-201.
    • (1990) Epilepsia , vol.31 , pp. 194-201
    • Kobayashi, K.1    Iyoda, K.2    Ohsutka, Y.3
  • 5
    • 0036365674 scopus 로고    scopus 로고
    • Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease
    • Minassian BA. Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease. Adv Neurol. 2002;89:199-210.
    • (2002) Adv Neurol , vol.89 , pp. 199-210
    • Minassian, B.A.1
  • 6
    • 0026352773 scopus 로고
    • Longitudinal EEG studies in a kindred with Lafora disease
    • Yen C, Beydoun A, Drury I. Longitudinal EEG studies in a kindred with Lafora disease. Epilepsia. 1991;32:895-899.
    • (1991) Epilepsia , vol.32 , pp. 895-899
    • Yen, C.1    Beydoun, A.2    Drury, I.3
  • 7
    • 31544471203 scopus 로고    scopus 로고
    • Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy
    • Ganesh S, Puri R, Singh S, et al. Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy. J Hum Genet. 2006;51:1-8.
    • (2006) J Hum Genet , vol.51 , pp. 1-8
    • Ganesh, S.1    Puri, R.2    Singh, S.3
  • 8
    • 0034703182 scopus 로고    scopus 로고
    • Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual specificity phosphatase associated with polyribosomes
    • Ganesh S, Agarwala KL, Ueda K, et al. Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual specificity phosphatase associated with polyribosomes. Hum Mol Genet. 2000;9:2251-2261.
    • (2000) Hum Mol Genet , vol.9 , pp. 2251-2261
    • Ganesh, S.1    Agarwala, K.L.2    Ueda, K.3
  • 9
    • 17644444332 scopus 로고    scopus 로고
    • Laforin, the dual phosphatase responsible for Lafora disease, interacts with R5(PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation
    • Fernandez-Sanchez ME, Criado-Garcia O, Heath KE, et al. Laforin, the dual phosphatase responsible for Lafora disease, interacts with R5(PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation. Hum Mol Genet. 2003;12:3161-3171.
    • (2003) Hum Mol Genet , vol.12 , pp. 3161-3171
    • Fernandez-Sanchez, M.E.1    Criado-Garcia, O.2    Heath, K.E.3
  • 10
    • 0037169553 scopus 로고    scopus 로고
    • A unique carbohydrate binding domain targets the Lafora disease phosphatase to glycogen
    • Wang J, Stuckey JA, Wishart MJ, Dixon JE. A unique carbohydrate binding domain targets the Lafora disease phosphatase to glycogen. J Biol Chem. 2002;277:2377-2380.
    • (2002) J Biol Chem , vol.277 , pp. 2377-2380
    • Wang, J.1    Stuckey, J.A.2    Wishart, M.J.3    Dixon, J.E.4
  • 11
    • 20844463813 scopus 로고    scopus 로고
    • Insights into Lafora disease: Malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin
    • Gentry MS, Worby CA, Dixon JE. Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin. Proc Natl Acad Sci USA. 2005; 102:8501-8506.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 8501-8506
    • Gentry, M.S.1    Worby, C.A.2    Dixon, J.E.3
  • 12
    • 3543124150 scopus 로고    scopus 로고
    • Progressive myoclonus epilepsy with polyglucosans (Lafora disease): Evidence for a third locus
    • Chan EM, Omer S, Ahmed M, et al. Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus. Neurology. 2004;63:565-567.
    • (2004) Neurology , vol.63 , pp. 565-567
    • Chan, E.M.1    Omer, S.2    Ahmed, M.3
  • 13
    • 0034799477 scopus 로고    scopus 로고
    • Advances in the genetics of progressive myoclonus epilepsy
    • Delgado-Escueta AV, Ganesh S, Yamakawa K. Advances in the genetics of progressive myoclonus epilepsy. Am J Med Genet. 2001;106: 129-138.
    • (2001) Am J Med Genet , vol.106 , pp. 129-138
    • Delgado-Escueta, A.V.1    Ganesh, S.2    Yamakawa, K.3
  • 14
    • 18444366477 scopus 로고    scopus 로고
    • Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: Exon 1 mutations associate with an early onset cognitive deficit subphenotype
    • Ganesh S, Delgado-Escueta AV, Suzuki T, et al. Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early onset cognitive deficit subphenotype. Hum Mol Genet. 2002;11:1263-1271.
    • (2002) Hum Mol Genet , vol.11 , pp. 1263-1271
    • Ganesh, S.1    Delgado-Escueta, A.V.2    Suzuki, T.3
  • 15
    • 18444405220 scopus 로고    scopus 로고
    • Targeted disruption of Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice
    • Ganesh S, Delgado-Escueta AV, Avila MR, et al. Targeted disruption of Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice. Hum Mol Genet. 2002;11:1251-1262.
    • (2002) Hum Mol Genet , vol.11 , pp. 1251-1262
    • Ganesh, S.1    Delgado-Escueta, A.V.2    Avila, M.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.