1. Médecine, Pharmacie, Paramédical, Médecine vétérinaire
  2. Spécialités médicales

EAN13
9782742014880
Éditeur
John Libbey
Date de publication
2 février 2017
Collection
Mariani Foundation Paediatric Neurology
Nombre de pages
204
Dimensions
25 x 17,6 x 1,7 cm
Poids
580 g
Langue
eng

Progressive Myoclonus Epilepsies, State Of The Art

Giuliano Avanzini, Pasquale Striano

John Libbey

Prix public : 64,00 €

<p>Progressive myoclonus epilepsy strikes healthy children and has a slow yet devastating impact upon their lives. Almost all forms are caused by single gene defects, the majority of which were identified during the genomic era.</p><p>Accurate clinical diagnosis is now straightforward and research into pathogenesis builds upon our understanding of causation. Future research is likely to lead to new therapeutic approaches while providing us with a better understanding of how the brain, the very essence of our being, operates, gene by gene. As we stand on the cusp of the post-genomic era, the emergence of unprecedented new tools, such as CRISPR and adeno-associated viruses, offers hope that these monogenetic diseases may one day be eliminated altogether.</p><p>This book outlines the genetic, pathogenetic, pathological, and clinical aspects of progressive myoclonus epilepsies within the context of the post-genomic era.</p>
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