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Progressive myoclonus epilepsies : state of the art / edited by Berge A. Minassian, Pasquale Striano and Giuliano Avanzini ; preface by Antonio V. Delgado-Escueta.
- Format:
- Book
- Series:
- Mariani Foundation paediatric neurology series ; 30.
- Mariani Foundation Paediatric Neurology, 0969-0301 ; 30
- Language:
- English
- Subjects (All):
- Myoclonus.
- Physical Description:
- 1 online resource (206 pages) : illustrations, photographs.
- Edition:
- 1st ed.
- Place of Publication:
- Montrouge, France : John Libbey Eurotext, 2017.
- Summary:
- A comprehensive book on the current state of knowledge about this group of rare Diseases.
- Contents:
- PROGRESSIVE MYOCLONUS EPILEPSIES STATE OF THE ART
- Foreword
- Preface
- Chapter 1 - The history of progressive myoclonus epilepsies
- Chapter 2 - Neurophysiology of myoclonus and progressive myoclonus epilepsies
- Chapter 3 - Unverricht-Lundborg disease
- Chapter 4 - Lafora disease
- Chapter 5 - SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome
- Chapter 6 - Neuronal ceroid lipofuscinoses
- Chapter 7 - Sialidoses
- Chapter 8 - Myoclonic epilepsy in mitochondrial disorders
- Chapter 9 - Progressive myoclonic epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis)
- Chapter 10 - GOSR2: a progressive myoclonus epilepsy gene
- Chapter 11 - KCTD7-related progressive myoclonic epilepsy
- Chapter 12 - Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis
- Chapter 13 - Spinal muscular atrophy associated with progressive myoclonic epilepsy
- Chapter 14 - Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations
- Chapter 15 - Autosomal dominant cortical tremor, myoclonus and epilepsy
- Chapter 16 - Myoclonus and seizures in PMEs: pharmacology and therapeutic trials
- Chapter 17 - Post-modern therapeutic approaches for progressive myoclonus epilepsy.
- Notes:
- Includes bibliographical references at the end of each chapters.
- Description based on online resource; title from PDF title page (ebrary, viewed November 14, 2017).
- ISBN:
- 9782742015245
- 2742015248
- OCLC:
- 1007041161
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