Progressive Myoclonus Epilepsies

Name: Progressive Myoclonus Epilepsies
Brand: John Libbey
SKU: 9782742015276
Price: 49.99 EUR
Availability: InStock
ISBN: 978-2-742-01527-6

State of the Art

de Giuliano Avanzini (auteur), Pascale Striano (auteur), Berge A. Minassian (auteur)

Maison d'édition : John Libbey

Collection : Mariani Foudation Paediatric Neurology

août 2017

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Text (eye-readable) [PDF + ePub]

format 1750 x 240 216 pages Téléchargement après achat

49,99 €

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.

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