Inherited Metabolic Epilepsies

Author: Phillip L. Pearl, MD
Publisher: Springer Publishing Company
ISBN: 0826168647
Format: PDF, Docs
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"This book fills an important and unique niche in pediatric neurology, and will be a frequently referenced textbook for all clinicians caring for children with epilepsy. It is well-organized and readable, and provides essential and up-to-date clinical data on these individually rare, but collectively more common, disorders." -Elaine Wirrell, MD, Neurology "Specialists in pediatric neurology, epilepsy, and biochemical genetics will find this volume to be indispensable for their daily practice. The organized approach to an incredibly complex set of disorders will also benefit trainees trying to make sense of the complex field and developing their own clinical approach, as knowledge about metabolic epilepsies continues to grow." -Carl E. Stafstrom, MD, PhD, Journal of Pediatric Epilepsy The continued explosion of information in neurogenetics and metabolism mandates increasing awareness of current diagnostic and therapeutic strategies in disease settings where prompt identification and intervention is crucial for a positive outcome. This thoroughly revised and greatly expanded new edition of the first book to bridge clinical epilepsy with inherited metabolic diseases brings together leading authorities to present state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. Inherited Metabolic Epilepsies, Second Edition contains 15 new chapters, and all existing chapters have been updated to reflect the latest science and clinical advances in this fast-moving field. New sections on basic and clinical science —covering energetics, metabolomics, pathways, the use of novel investigations like transcranial magnetic stimulation, neuropathology, and genomic technologies—supplement the disease-focused sections. Dedicated chapters focus on recently recognized disorders having novel therapeutic implications, pyridoxal-5-phosphate dependency, Menkes disease, and thiamine transporter deficiency. The book also includes new clinical applications of genomics and advanced generation gene sequencing in the diagnosis of inherited metabolic epilepsies. This readable, well-illustrated reference concludes with an updated clinical algorithm to aid physicians in screening and identifying suspected metabolic disorders and a collection of resources for families. Features Synthesizes cutting-edge diagnostic, clinical, and scientific information on epilepsy and inborn errors of metabolism Completely updated and expanded second edition contains the latest knowledge and 15 entirely new chapters Authored and edited by international experts in neurology, metabolic disorders, and genetics A readable and well-illustrated reference for clinicians Essential coverage of the new generation of genetic tests, which were not widely available or utilized when the first edition was published New chapter on inherited metabolic epilepsies in adult

Inherited Metabolic Diseases

Author: Georg F. Hoffmann
Publisher: Springer
ISBN: 3662494108
Format: PDF, Kindle
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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, ePub
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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: OUP Oxford
ISBN: 0191640964
Format: PDF, ePub
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Epilepsy is the most common serious neurological condition, affecting children and adults, and can occur in a variety of medical settings. It has many causes and many forms, and a variable prognosis. Mortality and morbidity are high, social and legal consequences can stretch well beyond the purely medical, and its management is often poor. 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. Written by internationally-renowned specialists, each chapter comprehensively covers the current knowledge and evidence base related to each aspect of the disorder, with an emphasis on the personal experience of the authors. The print edition of the Oxford Textbook of Epilepsy and Epileptic Seizures is complemented by an online version, which allows access to the full content of the textbook, contains links from the references to primary research journal articles, enables full text searches, and provides access to figures and tables that can be downloaded to PowerPoint®. This textbook will prove a useful clinical reference for neurologists and senior trainees in neurology, an educational manual for trainees, and will offer practical assistance to all physicians advising people with epilepsy.

A Clinical Guide to Epileptic Syndromes and their Treatment

Author: C. P. Panayiotopoulos
Publisher: Springer Science & Business Media
ISBN: 1846286441
Format: PDF, Mobi
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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, Kindle
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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, ePub, 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, ePub, Mobi
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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.