de Nijs, Laurence ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique
Coumans, Bernard ; Université de Liège - ULiège > GIGA - Neurosciences
Delgado-Escueta, Antonio
Grisar, Thierry ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Département des sciences biomédicales et précliniques
Lakaye, Bernard ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Biochimie et physiologie humaine et pathologique
Language :
English
Title :
Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development
Publication date :
2012
Journal title :
Human Molecular Genetics
ISSN :
0964-6906
eISSN :
1460-2083
Publisher :
Oxford University Press, Oxford, United Kingdom
Volume :
21
Issue :
23
Pages :
5106-17
Peer reviewed :
Peer Reviewed verified by ORBi
Funders :
FRSM - Fonds de la Recherche Scientifique Médicale ULg FSR - Université de Liège. Fonds spéciaux pour la recherche
Delgado-Escueta, A.V. and Enrile-Bacsal, F. (1984) Juvenile myoclonic epilepsy of Janz. Neurology, 34, 285-294.
Delgado-Escueta, A.V. (2007) Advances in genetics of juvenile myoclonic epilepsies. Epilepsy Curr., 7, 61-67.
Noebels, J.L., Avoli, M., Rogawski, M.A., Olsen, R.W. and Delgado-Escueta, A.V. (2012) The next decade of research in the basic mechanisms of the epilepsies. In Noebels, J.L., Avoli, M., Rogawski, M.A., Olsen, R.W. and Delgado-Escueta, A.V. (eds), Jasper's Basic Mechanisms of the Epilepsies, Oxford University Press, pp. 3-11.
Suzuki, T., Delgado-Escueta, A.V., Aguan, K., Alonso, M.E., Shi, J., Hara, Y., Nishida, M., Numata, T., Medina, M.T., Takeuchi, T. et al. (2004) Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat. Genet., 36, 842-849.
Ma, S., Blair, M.A., Abou-Khalil, B., Lagrange, A.H., Gurnett, C.A. and Hedera, P. (2006) Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. Epilepsy Res., 71, 129-134.
Stogmann, E., Lichtner, P., Baumgartner, C., Bonelli, S., Assem-Hilger, E., Leutmezer, F., Schmied, M., Hotzy, C., Strom, T.M., Meitinger, T. et al. (2006) Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations. Neurology, 67, 2029-2031.
Annesi, F., Gambardella, A., Michelucci, R., Bianchi, A., Marini, C., Canevini, M.P., Capovilla, G., Elia, M., Buti, D., Chifari, R. et al. (2007) Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. Epilepsia, 48, 1686-1690.
Medina, M.T., Suzuki, T., Alonso, M.E., Duron, R.M., Martinez-Juarez, I.E., Bailey, J.N., Bai, D., Inoue, Y., Yoshimura, I., Kaneko, S. et al. (2008) Novel mutations in myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy. Neurology, 70, 2137-2144.
Jara-Prado, A., Martinez-Juarez, I.E., Ochoa, A., Gonzalez, V.M., Fernandez-Gonzalez-Aragon Mdel, C., Lopez-Ruiz, M., Medina, M.T., Bailey, J.N., Delgado-Escueta, A.V. and Alonso, M.E. (2012) Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy. Seizure, 21, 550-554.
Berger, I., Dor, T., Halvardson, J., Edvardson, S., Shaag, A., Feuk, L. and Elpeleg, O. (2012) Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene. Epilepsia, 58, 1436-1440.
Meencke, H.J. and Janz, D. (1984) Neuropathological findings in primary generalized epilepsy: a study of eight cases. Epilepsia, 25, 8-21.
de Nijs, L., Lakaye, B., Coumans, B., Leon, C., Ikeda, T., Delgado-Escueta, A.V., Grisar, T. and Chanas, G. (2006) EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus. Exp. Cell Res., 312, 2872-2879.
de Nijs, L., Leon, C., Nguyen, L., Loturco, J.J., Delgado-Escueta, A.V., Grisar, T. and Lakaye, B. (2009) EFHC1 interacts with microtubules to regulate cell division and cortical development. Nat. Neurosci., 12, 1266-1274.
Nadarajah, B. and Parnavelas, J.G. (2002) Modes of neuronal migration in the developing cerebral cortex. Nat. Rev. Neurosci., 3, 423-432.
Marin, O. and Rubenstein, J.L. (2003) Cell migration in the forebrain. Annu. Rev. Neurosci., 26, 441-483.
Kriegstein, A.R. and Noctor, S.C. (2004) Patterns of neuronal migration in the embryonic cortex. Trends Neurosci., 27, 392-399.
Bellion, A. and Metin, C. (2005) Early regionalisation of the neocortex and the medial ganglionic eminence. Brain Res. Bull., 66, 402-409.
Metin, C., Vallee, R.B., Rakic, P. and Bhide, P.G. (2008) Modes and mishaps of neuronal migration in the mammalian brain. J. Neurosci., 28, 11746-11752.
Tsai, L.H. and Gleeson, J.G. (2005) Nucleokinesis in neuronal migration. Neuron, 46, 383-388.
Bellion, A., Baudoin, J.P., Alvarez, C., Bornens, M. and Metin, C. (2005) Nucleokinesis in tangentially migrating neurons comprises two alternating phases: forward migration of the Golgi/centrosome associated with centrosome splitting and myosin contraction at the rear. J. Neurosci., 25, 5691-5699.
Katano, M., Numata, T., Aguan, K., Hara, Y., Kiyonaka, S., Yamamoto, S., Miki, T., Sawamura, S., Suzuki, T., Yamakawa, K. et al. (2012) The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death. Cell Calcium, 51, 179-185.
Ikeda, T., Ikeda, K., Enomoto, M., Park, M.K., Hirono, M. and Kamiya, R. (2005) 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., 579, 819-822.
Suzuki, T., Inoue, I., Yamagata, T., Morita, N., Furuichi, T. and Yamakawa, K. (2008) Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia. Biochem. Biophys. Res. Commun., 367, 226-233.
Léon, C., de Nijs, L., Chanas, G., Delgado-Escueta, A.V., Grisar, T. and Lakaye, B. (2010) Distribution of EFHC1 or Myoclonin 1 in mouse neural structures. Epilepsy Res., 88, 196-207.
King, S.M. (2006) Axonemal protofilament ribbons, DM10 domains, and the link to juvenile myoclonic epilepsy. Cell Motil. Cytoskeleton, 63, 245-253.
Suzuki, T., Miyamoto, H., Nakahari, T., Inoue, I., Suemoto, T., Jiang, B., Hirota, Y., Itohara, S., Saido, T.C., Tsumoto, T. et al. (2009) Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility. Hum. Mol. Genet., 18, 1099-1109.
Rossetto, M.G., Zanarella, E., Orso, G., Scorzeto, M., Megighian, A., Kumar, V., Delgado-Escueta, A.V. and Daga, A. (2012) Defhc1.1, a homologue of the juvenile myoclonic gene EFHC1, modulates architecture and basal activity of the neuromuscular junction in Drosophila. Hum. Mol. Genet., 20, 4248-4257.
Jaglin, X.H. and Chelly, J. (2009) Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects. Trends Genet., 25, 555-566.
Ayala, R., Shu, T. and Tsai, L.H. (2007) Trekking across the brain: the journey of neuronal migration. Cell, 128, 29-43.
Schaar, B.T. and McConnell, S.K. (2005) Cytoskeletal coordination during neuronal migration. Proc. Natl Acad. Sci. USA, 102, 13652-13657.
Valiente, M. and Marin, O. (2010) Neuronal migration mechanisms in development and disease. Curr. Opin. Neurobiol., 20, 68-78.
LoTurco, J.J. and Bai, J. (2006) The multipolar stage and disruptions in neuronal migration. Trends Neurosci., 29, 407-413.
Kamiya, A., Kubo, K., Tomoda, T., Takaki, M., Youn, R., Ozeki, Y., Sawamura, N., Park, U., Kudo, C., Okawa, M. et al. (2005) A schizophrenia-associated mutation of DISC1 perturbs cerebral cortex development. Nat. Cell Biol., 7, 1167-1178.
Higginbotham, H., Yokota, Y. and Anton, E.S. (2011) Strategies for analyzing neuronal progenitor development and neuronal migration in the developing cerebral cortex. Cereb. Cortex, 21, 1465-1474.
Ramos, R.L., Bai, J. and LoTurco, J.J. (2006) Heterotopia formation in rat but not mouse neocortex after RNA interference knockdown of DCX. Cereb. Cortex, 16, 1323-1331.
Kim, J.H., Lee, J.K., Koh, S.B., Lee, S.A., Lee, J.M., Kim, S.I. and Kang, J.K. (2007) Regional grey matter abnormalities in juvenile myoclonic epilepsy: a voxel-based morphometry study. Neuroimage, 37, 1132-1137.
Woermann, F.G., Free, S.L., Koepp, M.J., Sisodiya, S.M. and Duncan, J.S. (1999) Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI. Brain, 122, 2101-2108.
Tae, W.S., Hong, S.B., Joo, E.Y., Han, S.J., Cho, J.W., Seo, D.W., Lee, J.M., Kim, I.Y., Byun, H.S. and Kim, S.I. (2006) Structural brain abnormalities in juvenile myoclonic epilepsy patients: volumetry and voxel-based morphometry. Korean J. Radiol., 7, 162-172.
Betting, L.E., Mory, S.B., Li, L.M., Lopes-Cendes, I., Guerreiro, M.M., Guerreiro, C.A. and Cendes, F. (2006) Voxel-based morphometry in patients with idiopathic generalized epilepsies. Neuroimage, 32, 498-502.
Kriegstein, A.R. (2005) Constructing circuits: neurogenesis and migration in the developing neocortex. Epilepsia, 46, 15-21.
Marsh, E., Fulp, C., Gomez, E., Nasrallah, I., Minarcik, J., Sudi, J., Christian, S.L., Mancini, G., Labosky, P., Dobyns, W. et al. (2009) Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. Brain, 132, 1563-1576.
Galaburda, A.M., LoTurco, J., Ramus, F., Fitch, R.H. and Rosen, G.D. (2006) From genes to behavior in developmental dyslexia. Nat. Neurosci., 9, 1213-1217.
Young-Pearse, T.L., Bai, J., Chang, R., Zheng, J.B., LoTurco, J.J. and Selkoe, D.J. (2007) A critical function for beta-amyloid precursor protein in neuronal migration revealed by in utero RNA interference. J. Neurosci., 27, 14459-14469.
Creppe, C., Malinouskaya, L., Volvert, M.L., Gillard, M., Close, P., Malaise, O., Laguesse, S., Cornez, I., Rahmouni, S., Ormenese, S. et al. (2009) Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin. Cell, 136, 551-564.
