Inherited Metabolic Epilepsies

Author: Phillip L. Pearl, MD
Publisher: Demos Medical Publishing
ISBN: 1617050563
Format: PDF, ePub
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The explosion of information in neurogenetics and metabolism mandates increasing awareness of appropriate diagnostic and therapeutic strategies in the setting of certain epilepsies, especially those of very early onset. There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome. This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. Inherited Metabolic Epilepsies opens with a section on general principles for diagnosis and targeted intervention including screening protocols, laboratory testing, neuroimaging, seizure patterns and EEG findings, new technologies, and the ketogenic diet in metabolic epilepsies. The next two sections are devoted to the cohort of specific small molecule disorders (aminoacidopathies, organic acidopathies, mitochondrial disorders, urea cycle disorders, neurotransmitter disorders, and glucose-related disorders) and large molecule disorders (lysomal storage disorders, peroxisomal diseases, glycosylation defects, and leukodystrophies) that are treatable yet can be so vexing to clinicians and investigators. The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction when considering an inherited metabolic disorder as the explanation for a patient with epilepsy. Inherited Metabolic Epilepsies Key Features: Presents the latest scientific thinking and clinical wisdom for a poorly understood group of disorders that have devastating consequences if unrecognized or not promptly treated Expert authorship from both the genetic-metabolic and epilepsy communities provides state-of-the-art guidance for understanding and managing these disorders A readable text for clinicians highlighting the relation between metabolic errors and epilepsy Concludes with a practical algorithm for evaluating a patient with a possible metabolic epilepsy

Inherited Metabolic Diseases

Author: Georg F. Hoffmann
Publisher: Springer
ISBN: 3662494108
Format: PDF, Docs
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This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists.

The Epilepsies 3

Author: Simon D. Shorvon
Publisher: Elsevier Health Sciences
ISBN: 1416061711
Format: PDF, Docs
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This title in the acclaimed Blue Books of Neurology series highlights advances in epileptology and new ways of managing seizure disorders. Contributors from around the world-most new to this volume-lend a global perspective and provide the latest thinking on the new and controversial issues surrounding epilepsy. You'll find detailed discussions of difficulties in diagnosing and treating epilepsy, including the latest pharmacologic management strategies. This book covers the entire range of issues in epilepsy from basic science research to current clinical issues to medical and surgical therapeutics. Find all you need on critical issues in treating epilepsy and seizure disorders. Provides the expertise of new contributors and volume editors who are world-class authorities in the field for authoritative guidance. Features thoroughly updated content including new chapters-Seizure Prediction; Drug Resistance Genes; Cortical Myoclonus and Epilepsy; Sudden Unexplained Death in Epilepsy; Seizures in the Elderly; Rasmussen's Encephalitis; Epilepsies Due to Monogenic Disorders of Metabolism; Epilepsy and Sleep; Long-term Effects of Seizures on Brain Structure and Function; Brain Stimulation in Epilepsy-for the most current information for use in the decision-making process. Includes coverage of the surgical management of epilepsy to help you determine when it's best to recommend surgery and for which patients. Emphasizes pharmacologic management of seizure patients that reflects advances in biotechnology and imaging.

Oxford Textbook of Epilepsy and Epileptic Seizures

Author: Simon Shorvon
Publisher: Oxford University Press
ISBN: 0199659044
Format: PDF, ePub, Mobi
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Part of the Oxford Textbooks in Clinical Neurology (OTCN) series, this volume covers the scientific basis, clinical diagnosis, and treatment of epilepsy and epileptic seizures, and is complemented by an online edition.

A Clinical Guide to Epileptic Syndromes and their Treatment

Author: C. P. Panayiotopoulos
Publisher: Springer Science & Business Media
ISBN: 1846286441
Format: PDF, Kindle
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Affecting 4 percent of children and 1-2 percent of the general population, epilepsy is one of the most common neurological disorders. The 1st edition of this guide proved to be the only one of its kind, covering many important aspects of diagnosis and treatment. Due to the continued advances being made in the subject, and building on the sell-out success of the 1st edition this thorough revision reflects the latest report of the ILAE classification core group and the significant progress made in the diagnosis, classification and treatment of the epilepsies.

Advanced Therapy in Epilepsy

Author: James W. Wheless
Publisher: PMPH-USA
ISBN: 9781607950042
Format: PDF, ePub
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A comprehensive, and up-to-date primer on the latest therapeutic advances in the management, and treatment of epilepsy. This Includes practical information on diagnostic criteria for all different syndromes along with detailed discussions of appropriate agents

Epilepsy Towards the Next Decade

Author: Pasquale Striano
Publisher: Springer
ISBN: 3319122835
Format: PDF, Mobi
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A comprehensive collection of the most recent knowledge on the biological bases of various kinds of epilepsies and modern clinical approaches to their treatment. Epilepsy affects about 0.5-1% of the world's population (about 50,000,000 individuals) and the main goal of its treatment is to eliminate seizures without creating side effects. Despite numerous advances in the treatment of epilepsy and the approval of several new antiepileptic drugs, about 30% of patients continue to experience recurrent seizures which are medically, physically, and/or socially disabling. The editor of this volume hopes that by bridging the gap between the fundamental biology of epilepsy and its clinical implications he might spur further research and treatment options.​

Handbook of Epilepsy Treatment

Author: Simon Shorvon
Publisher: John Wiley & Sons
ISBN: 9781444340808
Format: PDF
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Make your way through the epilepsy maze Epilepsy is a complex neurological condition. There are many modern treatment options, and treatment should nowadays be tailored to an individual patient. But identification of the best therapy can be a labyrinthine process. The Handbook of Epilepsy Treatment provides a practical pathfinder for treating epilepsy based on published evidence and the author’s 30 years of specialist clinical experience. Direct in style but comprehensive in content, with ample tables and summaries, the Handbook of Epilepsy Treatment covers: Treatment of the different forms and causes of epilepsy Treatment in the different commonly encountered clinical situations Treatment in children, in adults, in the elderly, in women, in epilepsy syndromes and in those with special needs and requirements Epilepsy drugs – their pharmacology, kinetics, side effects, effectiveness and practical usage in the clinic Epilepsy surgery – the various types, the indications, assessment and outcome A succinct pharmacopeia summarizes the entire range of anti-epileptic medications with emphasis on effective prescribing in the clinical setting. The Handbook of Epilepsy Treatment will help you and your patient find the best path to control epilepsy for each individual’s situation.

Myoclonic Epilepsies

Author: Antonio V. Delgado-Escueta
Publisher: Lippincott Williams & Wilkins
ISBN: 9780781752480
Format: PDF, ePub
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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.