Lafora disease (EPM2A and EPM2B genes); myoclonus epilepsy with ragged red fibers; or MERRF (mtDNA tRNA genes), and Dentatorubral-pallidoluysian atrophy or DRPLA (ATN1 gene) are three severe forms of progressive myoclonus epilepsy. The corresponding gene defects have been identified and molecular diagnosis is now widely available. Recent advances in genetics and molecular biology offer promising venues toward the development of new therapies. For an expanded treatment of this topic see Jasper's Basic Mechanisms of the Epilepsies, Fourth Edition (Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds) published by Oxford University Press (available on the National Library of Medicine Bookshelf [NCBI] at).

Italian version of the adverse events profile questionnaire in patients with epilepsy: translation, reliability and stability / R. Tozzi, C. Fattore, C. Galimberti, V. Franco, G. Gatti, A. Malerba, I. Mazzucchelli, S. Messina, M. Canevini, F. La Briola. - In: EPILEPSIA. - ISSN 0013-9580. - 51:suppl. 4(2010 Jun), pp. 75-75. ((Intervento presentato al 9. convegno European Congress on Epileptology tenutosi a Rhodes nel 2010 [10.1111/j.1528-1167.2010.02658.x].

Italian version of the adverse events profile questionnaire in patients with epilepsy: translation, reliability and stability

M. Canevini
Penultimo
;
F. La Briola
Ultimo
2010

Abstract

Lafora disease (EPM2A and EPM2B genes); myoclonus epilepsy with ragged red fibers; or MERRF (mtDNA tRNA genes), and Dentatorubral-pallidoluysian atrophy or DRPLA (ATN1 gene) are three severe forms of progressive myoclonus epilepsy. The corresponding gene defects have been identified and molecular diagnosis is now widely available. Recent advances in genetics and molecular biology offer promising venues toward the development of new therapies. For an expanded treatment of this topic see Jasper's Basic Mechanisms of the Epilepsies, Fourth Edition (Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds) published by Oxford University Press (available on the National Library of Medicine Bookshelf [NCBI] at).
Animal models; DRPLA; Lafora; Mitochondria; Molecular diagnosis; Neurodegeneration; Respiratory chain; Seizures
Settore MED/26 - Neurologia
Settore MED/39 - Neuropsichiatria Infantile
giu-2010
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/202765
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