Bioptically demonstrated Lafora disease without EPM2A mutation: a clinical and neurophysiological study of two sisters
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P. Striano | F. Zara | G. Vacca | S. Striano | F. Barbieri | C. Sarappa | P. Boccella | F. Falco
[1] K. Yamakawa,et al. Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice. , 2002, Human molecular genetics.
[2] S. Fahn,et al. A pilot tolerability and efficacy study of levetiracetam in patients with chronic myoclonus , 2001, Neurology.
[3] S. Dimauro,et al. Surprises of genetic engineering , 2001, Neurology.
[4] P. Genton,et al. Antimyoclonic effect of levetiracetam. , 2000, Epileptic disorders : international epilepsy journal with videotape.
[5] S. Scherer,et al. Laforin is a cell membrane and endoplasmic reticulum–associated protein tyrosine phosphatase , 2001, Annals of neurology.
[6] J. Serratosa,et al. Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions , 2000, European Journal of Human Genetics.
[7] S. Scherer,et al. Identification of new and common mutations in the EPM2A gene in Lafora disease , 2000, Neurology.
[8] S. Scherer,et al. Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy , 1999, Annals of neurology.
[9] S. Scherer,et al. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy , 1998, Nature Genetics.
[10] S. Lamusuo,et al. Piracetam relieves symptoms in progressive myoclonus epilepsy: a multicentre, randomised, double blind, crossover study comparing the efficacy and safety of three dosages of oral piracetam with placebo , 1998, Journal of neurology, neurosurgery, and psychiatry.
[11] N. Quinn,et al. Familial Lafora body disease of late onset: report of four cases in one family and a review of the literature , 1996, Journal of Neurology.
[12] P. Satishchandra,et al. Familial Progressive Myoclonus Epilepsy: Clinical and Electrophysiologic Observations , 1995, Epilepsia.
[13] A. Beydoun,et al. Longitudinal EEG Studies in a Kindred with Lafora Disease , 1991, Epilepsia.
[14] S. Tobimatsu,et al. Pathogenesis of giant somatosensory evoked potentials in progressive myoclonic epilepsy. , 1985, Brain : a journal of neurology.
[15] S. Carpenter,et al. Sweat gland duct cells in Lafora disease , 1981, Neurology.
[16] Gonzalo R. Lafora,et al. Beitrag zur Histopathologie der myoklonischen Epilepsie , 1911 .
[17] D. Seo,et al. Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy , 2003, Journal of Human Genetics.
[18] A. Beydoun,et al. Biopsy results in a kindred with Lafora disease. , 1993, Archives of neurology.
[19] J. Roger. Progressive myoclonus epilepsies in childhood and adolescence , 1992 .