Progressive myoclonus epilepsies : state of the art

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.

Product details

• Authors: Giuliano Avanzini, Berge A. Minassian, Giuliano Avanzini, Berge A. Minassian, MINASSIAN BERGE A., Minassian/striano/av, Pasquale Striano, Pascale Striano
• Publisher: John Libbey Eurotext
• Languages: French
• Product format: Paperback / Softback
• Released: 12.01.2017
• EAN: 9782742014880
• ISBN: 978-2-7420-1488-0
• No. of pages: 204
• Dimensions: 180 mm x 250 mm x 10 mm
• Weight: 580 g
• Series: Mariani Foundation paediatric neurology series, n° 19; Mariani Foundation paediatric neurology series, n° 24; Mariani Foundation paediatric neurology series; Mariani Foundation paediatric neurology series, n° 22; Mariani Foundation paediatric neurology series, n° 15; Mariani Foundation paediatric neurology series, n° 21; Mariani Foundation paediatric neurology series
• Subjects: Natural sciences, medicine, IT, technology > Medicine; Klinische und Innere Medizin