Progressive Myoclonus Epilepsies
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Author | : Antonio V. Delgado-Escueta |
Publisher | : Lippincott Williams & Wilkins |
Total Pages | : 368 |
Release | : 2005 |
Genre | : Medical |
ISBN | : 9780781752480 |
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.
Author | : Berge A. Minassian |
Publisher | : |
Total Pages | : 0 |
Release | : 2017 |
Genre | : Medical |
ISBN | : 9782742014880 |
Progressive myoclonus epilepsies are a group of rare genetic diseases. The onset generally occurs around puberty in otherwise healthy children. They all involve myoclonus and epilepsy but then differ depending on the different symptoms that are related. The outlook of these diseases is nearly always unfavourable and treatment only focuses on symptoms. Much planning will be needed to improve the quality of life for these children who will gradually become over time more and more severely disabled. Among these diseases, the most notable is Unverricht-Lundborg disease and Lafora disease, among others. However, the genetic mechanism of these diseases is simple and has been perfectly identified over time thanks to advancements in scientific discoveries. Hope lies in gene therapy, which in the near future will most likely be able to optimise treatment and even cure these children. This book addresses the situation by relying on clinicians descriptions, studies led by biologists on genetic variations and mutations and the work carried out daily by numerous scientists researching into treatment. By retracing the history of these diseases, from discovery and identification of mutated genes to the review of syndromes they encompass, this book marks the path we have travelled but also the distance we have yet to go.
Author | : Gonzalo Alarcón |
Publisher | : Cambridge University Press |
Total Pages | : 641 |
Release | : 2012-04-26 |
Genre | : Medical |
ISBN | : 0521691583 |
Covers all aspects of epilepsy, from basic mechanisms to diagnosis and management, as well as legal and social considerations.
Author | : Simon Shorvon |
Publisher | : Cambridge University Press |
Total Pages | : 1013 |
Release | : 2019-05-02 |
Genre | : Medical |
ISBN | : 1108420753 |
Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.
Author | : Mario Ubaldo Manto |
Publisher | : Cambridge University Press |
Total Pages | : 313 |
Release | : 2010-03-25 |
Genre | : Medical |
ISBN | : 1139487264 |
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.
Author | : Bureau Michelle |
Publisher | : John Libbey Eurotext |
Total Pages | : 682 |
Release | : 2012-11-12 |
Genre | : Medical |
ISBN | : 2742008292 |
The ultimate reference book : the 5th updated edition of the famous “blue guide”. Incluided : A DVD with new sequences completes each chapter! Epileptology changes. The syndromic approach is completed by an etiological approach, based on the major advances in genetics and functional genetics. New entities have found their place, and a purely descriptive, “electroclinical” approach is no longer adapted in many circumstances. The 5th edition of the Blue Guide includes the most recent advances. It was necessary to justify the physiological, epidemiologic, genetic and therapeutic approaches and to consider them in the light of the new classification efforts, which are still in the making. Nevertheless, the description of epileptic syndromes, both classical and recent, remains at the core of this book.
Author | : Ivan Donaldson |
Publisher | : Oxford University Press |
Total Pages | : 1512 |
Release | : 2012-03-29 |
Genre | : Medical |
ISBN | : 0191502243 |
This book represents the final work of the late Professor C. David Marsden, who was the most influential figure in the field of movement disorders, in terms of his contributions to both research and clinical practice, in the modern era. It was conceived and written by David Marsden and his colleague at the Institute of Neurology, Prof. Ivan Donaldson. It was their intention that this would be the most comprehensive book on movement disorders and also that it would serve as the 'clinical Bible' for the management of these conditions. It provides a masterly survey of the entire topic, which has been made possible only by vast laboratory and bedside experience. Marsden's Book of Movement Disorders covers the full breadth of movement disorders, from the underlying anatomy and understanding of basal ganglia function to the diagnosis and management of specific movement disorders, including the more common conditions such as Parkinson's Disease through to rare, and very rare conditions such as Niemann-Pick disease. Chapters follow a structured format with historical overviews, definitions, clinical features, differential diagnosis, investigations and treatment covered in a structured way. It is extensively illustrated with many original photographs and diagrams of historical significance. Among these illustrations are still images of some original film clips of some of Dr. Marsden's patients published here for the first time. Comprehensively referenced and updated by experts from the Institute of Neurology at Queen Square, this book is a valuable reference for, not just movement disorder specialists and researchers, but also for clinicians who care for patients with movement disorders.
Author | : Neville M. Jadeja |
Publisher | : Cambridge University Press |
Total Pages | : 273 |
Release | : 2021-07-15 |
Genre | : Medical |
ISBN | : 1108911161 |
The EEG is a simple and widely available neurophysiological test that, if interpreted correctly, can provide valuable insight into the functioning of the brain. However, despite its increasing usage in a range of settings, there is a common misconception that the EEG is inherently difficult to interpret. Compounding the problem is the lack of dedicated training and no standardized approach by encephalographers. This book provides a clear and concise guide to reading and interpreting EEGs in a systematic way. Presented in three sections, the first delivers foundational technical knowledge of how EEGs work, and the second concentrates on a comprehensive, stepwise approach to reading and interpreting an EEG. The third section contains examples of EEGs in common scenarios, such as seizures and post-cardiac arrest, enabling readers to correlate their findings to clinical indications. Heavily illustrated with over 200 example EEGs, this is an essential pocket guide to interpreting these tests.
Author | : S.R. Benbadis |
Publisher | : Springer Science & Business Media |
Total Pages | : 1966 |
Release | : 2010-09-20 |
Genre | : Medical |
ISBN | : 1848821271 |
Atlas of Epilepsies is a landmark, all-encompassing, illustrated reference work and hands-on guide to the diagnosis, management and treatment of epilepsy in all its forms and across all age groups. The premier text in the field with over one thousand images, the Atlas’s highly illustrative approach tackles the difficult subject of epileptic seizures and epileptic syndromes, accompanied by sequential photographs of each management step. Intraoperative photographs are accompanied by detailed figure legends describing nuances, subtleties, and the thought processes involved in each step, providing a fuller understanding of each procedure. The Atlas draws on the expertise of over 300 internationally-renowned experts, and is liberally interspersed with clinical insights and personal vignettes that offer helpful tips, technical advice and critical knowledge to the clinician and scholar. The thorough and complete table of contents includes dedicated sections or chapters on important topics such as neonatal and pediatric seizures; imitators of epilepsy; EEG and neuroimaging; psychiatric and quality of life aspects of epilepsy; and a complete guide to treatment options including current and up-to-date chapters on pharmaceuticals, surgical procedures, and additional and alternative treatments. No other publication addresses epilepsies as thoroughly and completely as the Atlas of Epilepsies. Exhaustive and illustrative, convenient and current, this reference is sure to be the premier text on epilepsy for many years to come.
Author | : Jeffrey Noebels |
Publisher | : OUP USA |
Total Pages | : 1258 |
Release | : 2012-06-29 |
Genre | : Medical |
ISBN | : 0199746540 |
Jasper's Basic Mechanisms, Fourth Edition, is the newest most ambitious and now clinically relevant publishing project to build on the four-decade legacy of the Jasper's series. In keeping with the original goal of searching for "a better understanding of the epilepsies and rational methods of prevention and treatment.", the book represents an encyclopedic compendium neurobiological mechanisms of seizures, epileptogenesis, epilepsy genetics and comordid conditions. Of practical importance to the clinician, and new to this edition are disease mechanisms of genetic epilepsies and therapeutic approaches, ranging from novel antiepileptic drug targets to cell and gene therapies.