메뉴 건너뛰기




Volumn 28, Issue 1, 2013, Pages

Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: Role of EFHC1 or Myoclonin1

Author keywords

Apoptosis; Brain development; Choroid plexus; EFHC1; Juvenile myoclonic epilepsy; Microtubule associated protein; Motile cilia; Radial migration

Indexed keywords

BRAIN PROTEIN; CILIARY NEUROTROPHIC FACTOR; EFHC1 PROTEIN; ION CHANNEL; MICROTUBULE ASSOCIATED PROTEIN; MYOCLONIN1 PROTEIN; UNCLASSIFIED DRUG;

EID: 84878969120     PISSN: 15255050     EISSN: 15255069     Source Type: Journal    
DOI: 10.1016/j.yebeh.2012.06.034     Document Type: Review
Times cited : (17)

References (15)
  • 1
    • 3543026306 scopus 로고    scopus 로고
    • Mutations in EFHC1 cause juvenile myoclonic epilepsy
    • Suzuki T., Delgado-Escueta A.V., Aguan K., et al. Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet 2004, 36(8):842-849.
    • (2004) Nat Genet , vol.36 , Issue.8 , pp. 842-849
    • Suzuki, T.1    Delgado-Escueta, A.V.2    Aguan, K.3
  • 2
    • 45949088634 scopus 로고    scopus 로고
    • Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy
    • Medina M.T., Suzuki T., Alonso M.E., et al. Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. Neurology 2008, 70(22 Pt 2):2137-2144.
    • (2008) Neurology , vol.70 , Issue.22 PART 2 , pp. 2137-2144
    • Medina, M.T.1    Suzuki, T.2    Alonso, M.E.3
  • 3
    • 84856951132 scopus 로고    scopus 로고
    • The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death
    • Katano M., Numata T., Aguan K., et al. The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death. Cell Calcium 2012, 51(2):179-185.
    • (2012) Cell Calcium , vol.51 , Issue.2 , pp. 179-185
    • Katano, M.1    Numata, T.2    Aguan, K.3
  • 4
    • 12744262221 scopus 로고    scopus 로고
    • The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella
    • Ikeda T., Ikeda K., Enomoto M., Park M.K., Hirono M., Kamiya R. The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella. FEBS Lett 2005, 579(3):819-822.
    • (2005) FEBS Lett , vol.579 , Issue.3 , pp. 819-822
    • Ikeda, T.1    Ikeda, K.2    Enomoto, M.3    Park, M.K.4    Hirono, M.5    Kamiya, R.6
  • 7
    • 61849107443 scopus 로고    scopus 로고
    • Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility
    • Suzuki T., Miyamoto H., Nakahari T., et al. Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility. Hum Mol Genet 2009, 18(6):1099-1109.
    • (2009) Hum Mol Genet , vol.18 , Issue.6 , pp. 1099-1109
    • Suzuki, T.1    Miyamoto, H.2    Nakahari, T.3
  • 8
    • 31944434903 scopus 로고    scopus 로고
    • New neurons follow the flow of cerebrospinal fluid in the adult brain
    • Sawamoto K., Wichterle H., Gonzalez-Perez O., et al. New neurons follow the flow of cerebrospinal fluid in the adult brain. Science 2006, 311(5761):629-632.
    • (2006) Science , vol.311 , Issue.5761 , pp. 629-632
    • Sawamoto, K.1    Wichterle, H.2    Gonzalez-Perez, O.3
  • 9
    • 79952215175 scopus 로고    scopus 로고
    • The cerebrospinal fluid provides a proliferative niche for neural progenitor cells
    • Lehtinen M.K., Zappaterra M.W., Chen X., et al. The cerebrospinal fluid provides a proliferative niche for neural progenitor cells. Neuron 2011, 69(5):893-905.
    • (2011) Neuron , vol.69 , Issue.5 , pp. 893-905
    • Lehtinen, M.K.1    Zappaterra, M.W.2    Chen, X.3
  • 10
    • 33747343903 scopus 로고    scopus 로고
    • EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus
    • de Nijs L., Lakaye B., Coumans B., et al. EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus. Exp Cell Res 2006, 312(15):2872-2879.
    • (2006) Exp Cell Res , vol.312 , Issue.15 , pp. 2872-2879
    • de Nijs, L.1    Lakaye, B.2    Coumans, B.3
  • 11
    • 70349554367 scopus 로고    scopus 로고
    • EFHC1 interacts with microtubules to regulate cell division and cortical development
    • de Nijs L., Léon C., Nguyen L., et al. EFHC1 interacts with microtubules to regulate cell division and cortical development. Nat Neurosci 2009, 12(10):1266-1274.
    • (2009) Nat Neurosci , vol.12 , Issue.10 , pp. 1266-1274
    • de Nijs, L.1    Léon, C.2    Nguyen, L.3
  • 12
    • 33847270670 scopus 로고    scopus 로고
    • Some genetic and biochemical aspects of myoclonus
    • Grisar T., de Nijs L., Chanas G., et al. Some genetic and biochemical aspects of myoclonus. Neurophysiol Clin 2006, 36(5-6):271-279.
    • (2006) Neurophysiol Clin , vol.36 , Issue.5-6 , pp. 271-279
    • Grisar, T.1    de Nijs, L.2    Chanas, G.3
  • 13
    • 80053999346 scopus 로고    scopus 로고
    • Defhc1.1, a homologue of the juvenile myoclonic gene EFHC1, modulates architecture and basal activity of the neuromuscular junction in Drosophila
    • Rossetto M.G., Zanarella E., Orso G., et al. Defhc1.1, a homologue of the juvenile myoclonic gene EFHC1, modulates architecture and basal activity of the neuromuscular junction in Drosophila. Hum Mol Genet 2011, 20(21):4248-4257.
    • (2011) Hum Mol Genet , vol.20 , Issue.21 , pp. 4248-4257
    • Rossetto, M.G.1    Zanarella, E.2    Orso, G.3
  • 14
    • 84859421214 scopus 로고    scopus 로고
    • Widespread cortical morphologic changes in juvenile myoclonic epilepsy: evidence from structural MRI
    • Ronan L., Alhusaini S., Scanlon C., Doherty C.P., Delanty N., Fitzsimons M. Widespread cortical morphologic changes in juvenile myoclonic epilepsy: evidence from structural MRI. Epilepsia 2012, 53(4):651-658.
    • (2012) Epilepsia , vol.53 , Issue.4 , pp. 651-658
    • Ronan, L.1    Alhusaini, S.2    Scanlon, C.3    Doherty, C.P.4    Delanty, N.5    Fitzsimons, M.6
  • 15
    • 0021368047 scopus 로고
    • Neuropathological findings in primary generalized epilepsy: a study of eight cases
    • Meencke H.J., Janz D. Neuropathological findings in primary generalized epilepsy: a study of eight cases. Epilepsia 1984, 25(1):8-21.
    • (1984) Epilepsia , vol.25 , Issue.1 , pp. 8-21
    • Meencke, H.J.1    Janz, D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.