MeSH Review:
Lafora Disease
- "Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin. Eldridge, R., Iivanainen, M., Stern, R., Koerber, T., Wilder, B.J. Lancet (1983)
- A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2). Serratosa, J.M., Gómez-Garre, P., Gallardo, M.E., Anta, B., de Bernabé, D.B., Lindhout, D., Augustijn, P.B., Tassinari, C.A., Malafosse, R.M., Topcu, M., Grid, D., Dravet, C., Berkovic, S.F., de Córdoba, S.R. Hum. Mol. Genet. (1999)
- Mutations in NHLRC1 cause progressive myoclonus epilepsy. Chan, E.M., Young, E.J., Ianzano, L., Munteanu, I., Zhao, X., Christopoulos, C.C., Avanzini, G., Elia, M., Ackerley, C.A., Jovic, N.J., Bohlega, S., Andermann, E., Rouleau, G.A., Delgado-Escueta, A.V., Minassian, B.A., Scherer, S.W. Nat. Genet. (2003)
- Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy. Chan, E.M., Ackerley, C.A., Lohi, H., Ianzano, L., Cortez, M.A., Shannon, P., Scherer, S.W., Minassian, B.A. Hum. Mol. Genet. (2004)
- Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation. Fernández-Sánchez, M.E., Criado-García, O., Heath, K.E., García-Fojeda, B., Medraño-Fernández, I., Gomez-Garre, P., Sanz, P., Serratosa, J.M., Rodríguez de Córdoba, S. Hum. Mol. Genet. (2003)
- Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy. Carpenter, S., Karpati, G. Neurology (1981)
- Pyruvate metabolism in Lafora disease. Busard, H.L., Renier, W.O., Gabreëls, F.J., Trijbels, J.M., Janssen, A.J., Lamers, K.J. Epilepsia (1989)
- Neuropharmacology of progressive myoclonus epilepsy: response to 5-hydroxy-L-tryptophan. Pranzatelli, M.R., Tate, E., Huang, Y., Haas, R.H., Bodensteiner, J., Ashwal, S., Franz, D. Epilepsia (1995)
- Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. Gómez-Garre, P., Sanz, Y., Rodríguez De Córdoba, S.R., Serratosa, J.M. Eur. J. Hum. Genet. (2000)
- Long-term observations of two siblings with Lafora disease treated with zonisamide. Yoshimura, I., Kaneko, S., Yoshimura, N., Murakami, T. Epilepsy Res. (2001)
- Superoxide dismutase and glutathione peroxidase function in progressive myoclonus epilepsies. Ben-Menachem, E., Kyllerman, M., Marklund, S. Epilepsy Res. (2000)
- The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain. Ganesh, S., Tsurutani, N., Suzuki, T., Ueda, K., Agarwala, K.L., Osada, H., Delgado-Escueta, A.V., Yamakawa, K. Hum. Mol. Genet. (2003)
- Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin. Gentry, M.S., Worby, C.A., Dixon, J.E. Proc. Natl. Acad. Sci. U.S.A. (2005)
- Glycogen and related polysaccharides inhibit the laforin dual-specificity protein phosphatase. Wang, W., Roach, P.J. Biochem. Biophys. Res. Commun. (2004)
- Lafora disease is not linked to the Unverricht-Lundborg locus. Labauge, P., Beck, C., Bellet, H., Coquillat, G., Vespignani, H., Dulac, O., Gilgenkrantz, S., Dravet, C., Genton, P., Pellissier, J.F. Am. J. Med. Genet. (1995)
- Longitudinal EEG studies in a kindred with Lafora disease. Yen, C., Beydoun, A., Drury, I. Epilepsia (1991)