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

Genetics of Epilepsy

Author:
Publisher: Elsevier
ISBN: 0444633332
Format: PDF, Mobi
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The book chapters cover different aspects of epilepsy genetics, starting with the "classical" concept of epilepsies as ion channel disorders. The second part of the book gives credit to the fact that by now non-ion channel genes are recognized as equally important causes of epilepsy. The concluding chapters are designed to offer the reader insight into current methods in epilepsy research. Each chapter is self-contained and deals with a selected topic of interest. Authors are the leading experts in the field of epilepsy research Book covers the most important aspects of epilepsy Interesting for both scientists and clinicians

Inherited Metabolic Diseases

Author: Georg F. Hoffmann
Publisher: Springer
ISBN: 3662494108
Format: PDF, Mobi
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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, 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.

Practical Epilepsy

Author: Aatif M. Husain, MD
Publisher: Springer Publishing Company
ISBN: 161705187X
Format: PDF, Docs
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Written for busy practitioners and trainees, Practical Epilepsy is the only concise yet exhaustive reference encompassing the broad scope of clinical epilepsy. It contains core information for professionals who wish gain a breadth and depth of knowledge about epilepsy in a shorter amount of time than is required to read large reference books, and is a valuable review tool for self-assessment or exam preparation. Designed to be read cover-to-cover, this highly practical reference covers basic science, assessment, and treatment and uses clear, succinct narratives, lists, tables, and illustrations to present the essential information needed to understand all aspects of epilepsy. The first section of the book introduces the clinical aspects of the science of epileptology with chapters on pathophysiology, genetics, classification, syndromes, epidemiology, etiology, and differential diagnosis. The second section is devoted to diagnostic evaluation, including instrumentation, normal and abnormal EEG, ICU EEG monitoring, scalp and intracranial video EEG monitoring, brain mapping, seizure semiology, neuroimaging, and other techniques. Section three covers treatment with a thorough review of basic principles, all classes of antiepileptic drugs, stimulation therapy, surgery, and dietary and alternative therapies. The final section focuses on special situations and associated concerns, ranging from status epilepticus and psychogenic nonepileptic seizures to migraines and reproductive issues. Key Features: Delivers a concise yet thorough review of the clinical science and current practice of epilepsy medicine Chapter contributions come from a wide array of specialists Presents information in crisp, formatted chapters that distill must-know information for maximum utility Useful for practitioners at any level, from trainees to more experienced clinicians Illustrated with over 100 figures, including EEG readouts and other clinical images Serves as a valuable review tool for self-study or exam preparation About the Editor: Aatif M. Husain, MD, Professor, Department of Neurology, Duke University Medical Center, Durham, NC

The Treatment of Epilepsy

Author: Elaine Wyllie
Publisher: Lippincott Williams & Wilkins
ISBN: 0781749956
Format: PDF, ePub
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Serving as a reference on the epilepsies, this fourth edition provides an overview of seizure disorders and contemporary treatment options. It brings together the vital work in the neurosciences, genetics, electroencephalography, pediatric and adult neurology, neuropharmacology, neurosurgery, and psychiatry. It also talks about epilepsy surgery.

Inherited Metabolic Disease New Insights for the Healthcare Professional 2012 Edition

Author:
Publisher: ScholarlyEditions
ISBN: 1464976473
Format: PDF, ePub, Docs
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Inherited Metabolic Disease: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Inherited Metabolic Disease in a concise format. The editors have built Inherited Metabolic Disease: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inherited Metabolic Disease in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Inherited Metabolic Disease: New Insights for the Healthcare Professional / 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Epilepsy and Intensive Care Monitoring

Author: Bruce J Fisch, MD
Publisher: Demos Medical Publishing
ISBN: 9781935281597
Format: PDF
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Unlike many other diagnostic procedures, EEG, now over 80 years old, and epilepsy monitoring, now over 40 years old, have demonstrated their usefulness and stood the test of time. Although the benefits of these diagnostic procedures are clear, monitoring is currently not available to the majority of patients in need. One of the factors limiting broader implementation is the lack of practitioners with special expertise. Epilepsy and Intensive Care Monitoring was developed to address this concern. This practical volume contains detailed chapters covering all areas of clinical epilepsy monitoring. Featuring expert authors from major epilepsy centers, this seminal work reviews all current procedures and applications for monitoring adults and children with epilepsy in the Epilepsy Monitoring Unit and the ICU. Opening sections are devoted to indications, procedures, administrative considerations, and technical aspects of the Epilepsy Monitoring Unit and ICU monitoring, followed by dedicated sections on EEG diagnosis and localization and monitoring of neurological disorders in the Epilepsy Monitoring Unit and ICU. The book concludes with special procedures and an Appendix with guidelines for organizing epilepsy monitoring centers and technical aspects of EEG monitoring. Key Features include Covers both adult and pediatric Epilepsy Monitoring Unit and ICU monitoring Contains over 235 high-quality EEGs and other illustrations, including an 8-page color section Comprehensive coverage; no other book in this area has comparable breadth and depth Clinical Focus Expert authors tell you when and how to perform the procedures they discuss

Oxford Textbook of Epilepsy and Epileptic Seizures

Author: Simon Shorvon
Publisher: OUP Oxford
ISBN: 0191640964
Format: PDF, ePub, Docs
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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.

Atlas of Inherited Metabolic Diseases 3E

Author: William L Nyhan
Publisher: CRC Press
ISBN: 1444149482
Format: PDF, ePub
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In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The third edition of this highly regarded book, authored by three of the foremost authorities in pediatric metabolic medicine, fulfils this need by providing an invaluable insight into the problems associated with metabolic diseases. The Atlas of Metabolic Disease is divided into sections of related disorders, such as disorders of amino acid metabolism, lipid storage disorders and mitochondrial diseases, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within sections each chapter deals with an individual disease, starting with a useful summary of major phenotypic expression and including clear and helpful biochemical pathways, identifying for the reader exactly where the defect is occurring. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.