Progressive Myoclonus Epilepsies
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Progressive Myoclonus Epilepsies
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Author : Berge A. Minassian
language : en
Publisher: John Libbey Eurotext
Release Date : 2017-01-01
Progressive Myoclonus Epilepsies written by Berge A. Minassian and has been published by John Libbey Eurotext this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-01-01 with categories.
Progressive Myoclonus Epilepsies
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Author : Berge A. Minassian
language : en
Publisher:
Release Date : 2017
Progressive Myoclonus Epilepsies written by Berge A. Minassian and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017 with HEALTH & FITNESS categories.
Pediatric Neurology Part Iii
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Author : Jean-Marie Girard
language : en
Publisher: Elsevier Inc. Chapters
Release Date : 2013-04-24
Pediatric Neurology Part Iii written by Jean-Marie Girard and has been published by Elsevier Inc. Chapters this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-04-24 with Medical categories.
The progressive myoclonus epilepsies (PMEs) consist of a group of diseases with myoclonic seizures and progressive neurodegeneration, with onset in childhood and/or adolescence. Lafora disease is a neuronal glycogenosis in which normal glycogen is transformed into starch-like polyglucosans that accumulate in the neuronal somatodendritic compartment. It is caused by defects of two genes of yet unknown function, one encoding a glycogen phosphatase (laforin) and the other an ubiquitin E3 ligase (malin). Early cognitive deterioration, visual seizures affecting over half, and slowing down of EEG basic activity are three major diagnostic clues. Unverricht–Lundborg disease is presently thought to be due to damage to neurons by lysosomal cathepsins and reactive oxygen species due to absence of cystatin B, a small protein that inactivates cathepsins and, by ways yet unknown, quenches damaging redox compounds. Preserved cognition and background EEG activity, action myoclonus early morning and vertex spikes in REM sleep are the diagnostic clues. Sialidosis, with cherry-red spot, neuronopathic Gaucher disease, with paralysis of verticality, and ataxia-PME, with ataxia at onset in the middle of the first decade, are also lysosomal diseases. How the lysosomal defect culminates in myoclonus and epilepsy in these conditions remains unknown.
Myoclonic Epilepsies
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Author : Antonio V. Delgado-Escueta
language : en
Publisher: Lippincott Williams & Wilkins
Release Date : 2005
Myoclonic Epilepsies written by Antonio V. Delgado-Escueta and has been published by Lippincott Williams & Wilkins this book supported file pdf, txt, epub, kindle and other format this book has been release on 2005 with Medical categories.
This volume is the first comprehensive text and clinical reference on idiopathic myoclonic epilepsies of infancy, childhood, adolescence, and adulthood. The world’s foremost experts describe the phenotypes and subtypes of myoclonic epilepsies and the underlying molecular defects and summarize cutting-edge advances in molecular genetics that shed new light on the etiologies of these syndromes. The book offers clinicians much-needed assistance in recognizing and diagnosing idiopathic myoclonic epilepsies and selecting appropriate treatment. Each chapter includes diagnostic and treatment algorithms to guide practitioners in clinical decision making.
Progressive Myoclonus Epilepsies
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Author :
language : en
Publisher:
Release Date : 2010
Progressive Myoclonus Epilepsies written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010 with categories.
Introduction To Epilepsy
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Author : Gonzalo Alarcón
language : en
Publisher: Cambridge University Press
Release Date : 2012-04-26
Introduction To Epilepsy written by Gonzalo Alarcón and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-04-26 with Medical categories.
Covers all aspects of epilepsy, from basic mechanisms to diagnosis and management, as well as legal and social considerations.
Cerebellar Disorders
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Author : Mario Ubaldo Manto
language : en
Publisher: Cambridge University Press
Release Date : 2010-03-25
Cerebellar Disorders written by Mario Ubaldo Manto and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-03-25 with Medical categories.
During the last three decades, many laboratories worldwide have dedicated their research activities to understanding the roles of the cerebellum in motor control, cognitive processes and the biology of mental processes, behavioral symptoms and emotion. These advances have been associated with discoveries of new clinical disorders, in particular in the field of genetic ataxias, and the growing number of diseases presents a source of difficulty for clinicians during daily practice. This practical guide summarizes and evaluates current knowledge in the field of cerebellar disorders. Encompassing details of both common and uncommon cerebellar ataxias, including vascular, immune, neoplastic, infectious, traumatic, toxic and inherited disorders, this book will assist clinicians in the diagnosis and management of the full spectrum of cerebellar ataxias encountered in daily practice. Essential reading for clinicians, including general practitioners, neurologists, pediatricians, radiologists, psychiatrists and neuropsychologists, this will also prove a valuable tool for students, trainees and researchers.
The Causes Of Epilepsy
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Author : Simon Shorvon
language : en
Publisher: Cambridge University Press
Release Date : 2019-05-02
The Causes Of Epilepsy written by Simon Shorvon and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-05-02 with Medical categories.
Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.
The Molecular Genetics Of Progressive Myoclonus Epilepsy Epm1
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Author : Kimmo Virtaneva
language : en
Publisher:
Release Date : 1998
The Molecular Genetics Of Progressive Myoclonus Epilepsy Epm1 written by Kimmo Virtaneva and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1998 with categories.
Pediatric Neurology Part I
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Author : Renzo Guerrini
language : en
Publisher: Elsevier Inc. Chapters
Release Date : 2013-04-24
Pediatric Neurology Part I written by Renzo Guerrini and has been published by Elsevier Inc. Chapters this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-04-24 with Medical categories.
Epileptic myoclonus can be defined as an elementary electroclinical manifestation of epilepsy involving descending neurons, whose spatial (spread) or temporal (self-sustained repetition) amplification can trigger overt epileptic activity and can be classified as cortical (positive and negative), secondarily generalized, thalamo-cortical, and reticular. Cortical epileptic myoclonus represents a fragment of partial or symptomatic generalized epilepsy; thalamo-cortical epileptic myoclonus is a fragment of idiopathic generalized epilepsy. Reflex reticular myoclonus represents the clinical counterpart of fragments of hypersynchronous epileptic activity of neurons in the brainstem reticular formation. Epileptic myoclonus, in the setting of an epilepsy syndrome, can be only one component of a seizure, the only seizure manifestations, one of the multiple seizure types or a more stable condition that is manifested in a nonparoxysmal fashion and mimics a movement disorder. This complex correlation is more obvious in patients with epilepsia partialis continua in which cortical myoclonus and overt focal motor seizures usually start in the same somatic (and cortical) region. In patients with cortical tremor this correlation is less obvious and requires neurophysiological studies to be demonstrated.