Le point sur l'état des connaissances en matière d'épilepsies myocloniques progressives. L'ouvrage aborde le pronostic, les prises en charge, le mécanisme des maladies, les perspectives offertes par la thérapie génique ou encore les recherches scientifiques. ©Electre 2025
Progressive Myoclonus Epilepsies
State of the art
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.
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.
This book outlines the genetic, pathogenetic, pathological, and clinical aspects of progressive myoclonus epilepsies within the context of the post-genomic era.
Paru le : 02/02/2017
Thématique : Neurologie - Psychiatrie
Auteur(s) : Non précisé.
Éditeur(s) :
John Libbey Eurotext
Collection(s) : Mariani Foundation paediatric neurology series
Contributeur(s) : Editeur scientifique (ou intellectuel) : Berge A. Minassian - Editeur scientifique (ou intellectuel) : Pasquale Striano - Editeur scientifique (ou intellectuel) : Giuliano Avanzini
Série(s) : Non précisé.
ISBN : 978-2-7420-1488-0
EAN13 : 9782742014880
Reliure : Relié
Pages : 204
Hauteur: 25.0 cm / Largeur 18.0 cm
Épaisseur: 1.7 cm
Poids: 580 g
Carte fidélité
Mollat Radio
