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Progressive Myoclonus Epilepsies

Librairie Eyrolles - Paris 5e
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Progressive Myoclonus Epilepsies

Progressive Myoclonus Epilepsies

State of the Art

- Collection Mariani Foudation Paediatric Neurology

206 pages, parution le 02/02/2017

Résumé

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.

L'auteur Giuliano Avanzini

Autres livres de Giuliano Avanzini

Sommaire

  • The history of Progressive Myoclonus Epilepsies
  • Neurophysiology of myoclonus and progressive myoclonus epilepsies
  • Unverricht-Lundborg disease
  • Lafora disease
  • AMRF
  • Neuronal ceroid lipofuscinoses
  • Sialidoses
  • Myoclonic Epilepsy in Mitochondrial Disorders
  • Progressive Myoclonic Epilepsy associated with Neuroserpin inclusion bodies (Neuroserpinosis)
  • GOSR2: A Progressive Myoclonus Epilepsy Gene
  • KCTD7 related progressive myoclonic epilepsy
  • Autosomal recessive progressive myoclonus epilepsy due to ceramide synthesis impairment
  • Spinal muscular atrophy associated with progressive myoclonic epilepsy
  • Myoclonus Epilepsy and Ataxia due to Potassium Channel (MEAK) is caused by heterozygous KCNC1 mutations
  • Autosomal dominant cortical tremor, myoclonus and epilepsy
  • Myoclonus and seizures in PMEs: pharmacology and therapeutic trials
  • Post-Modern Therapy Approaches for the Progressive Myoclonus Epilepsy
Voir tout
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Caractéristiques techniques du livre "Progressive Myoclonus Epilepsies"

  PAPIER NUMERIQUE
Éditeur(s) John Libbey
Auteur(s) Berge A. Minassian, Pascale Striano, Giuliano Avanzini
Collection Mariani Foudation Paediatric Neurology
Parution 02/02/2017 25/08/2017
Nb. de pages 206 216
Format 17,5 x 25 -
Couverture Relié -
Poids 580g -
Intérieur Quadri -
Contenu - PDF EPUB
EAN13 9782742014880 9782742015276
ISBN13 978-2-7420-1488-0 N/A

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