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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.

  • 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

Editeur : John Libbey

Auteur(s) : Giuliano Avanzini, Pascale Striano, Berge A. Minassian

Collection : Mariani Foudation Paediatric Neurology

Publication : 25 août 2017

Edition : 1ère édition

Intérieur : Noir & blanc

Support(s) : eBook [PDF + ePub]

Contenu(s) : PDF, ePub

Protection(s) : Marquage social (PDF), Marquage social (ePub)

Taille(s) : 20 Mo (PDF), 21 Mo (ePub)

Langue(s) : Anglais

Code(s) CLIL : 3173

EAN13 eBook [PDF + ePub] : 9782742015276

EAN13 (papier) : 9782742014880

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