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Author: F. Lehmann-Horn
Publisher: Elsevier
ISBN: 0080528856
Category : Science
Languages : en
Pages : 383
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Book Description
This book describes human hereditary ion channel diseases of voltage- and ligand-gated ion channels covering the diverse fields of medicine myology, neurology, cardiology, and nephrology requiring a wide and interdisciplinary readership. Interesting parallels in pathogenetic mechanisms of disease are especially emphasized to interest even highly specialized readers in entities outside of their fields. Each author has written an objective overview of his or her particular subject in a way that should allow the reader within a short period of time to obtain a comprehensive picture of the present state of art.
Author:
Publisher: Elsevier
ISBN: 0323908217
Category : Medical
Languages : en
Pages : 294
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Book Description
In the last 15 years, a combination of detailed clinical, genetic, molecular electrophysiological and immunological research has combined to result in a deep understanding of a subgroup of neurological diseases spanning the central and peripheral nervous system and which have become known collectively as the Neurological Channelopathies.Ion channels are critical membrane bound proteins that underpin many fundamental processes in the central and peripheral nervous system including action potential generation and propagation and the control of neurotransmitter release at all CNS synapses as well as at the neuromuscular junction. Ion channels are consequently essential for all motor actions, cognitive functions and sensory perceptions. Although it was originally considered that significant ion channel dysfunction would not be compatible with life, we now know this is often not the case, although severe disease can often be the result. Given the fundamental processes that are dependent on ion channel function, it is perhaps unsurprising that genetic or immunologically mediated ion channel dysfunction can result in almost any neurological symptom; patients may present to virtually any subspecialty within both adult and child neurology. The advances that have been made here have not only increased knowledge about the fundamental molecular mechanisms at play, but have also improved our ability to both diagnose and treat many of these disorders in clinical practice. Given these major advances, it is now the right time to combine this knowledge into a single HCN volume dedicated to the Neurological Channelopathies.The book will begin with an introductory overview highlighting common mechanistic themes that cut across different CNS and PNS presentations but with potential for common treatment approaches. This initial chapter considers the classification, genetics, and fundamental physiology of ion channels. Subsequent chapters present a detailed consideration of all genetic and immunological channelopathies. Each chapter will consider•Pathophysiological underpinnings - genetic or immunological•Clinical presentations•Diagnostic approach•Treatment and management - Identifies importance of ion channels to CNS & PNS function - Considers the classification, genetics, and physiology of ion channels - Presents all major immunological and genetic channelopathies - Provides clinical presentation, diagnosis, and treatment of channelopathies
Author: Nicholas Wood
Publisher: Cambridge University Press
ISBN: 052154372X
Category : Medical
Languages : en
Pages : 251
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Book Description
A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.
Author: Michael Rose
Publisher: Butterworth-Heinemann
ISBN:
Category : Medical
Languages : en
Pages : 376
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Book Description
* A unique reference focusing on the rapidly developing field of channelopathies of common neurological disorders * Written specifically for the clinical neurologist and neuroscientist * It reviews the underlying scientific principles of ion channel function and the current research and its clinical applications
Author:
Publisher: Academic Press
ISBN: 0080923100
Category : Science
Languages : en
Pages : 168
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Book Description
Ion channel dysfunction in humans leads to impairment of the excitable processes necessary for the normal function of several tissues, such as muscle and brain. It follows that an increasing number of human diseases have been associated with malfunctioning ion channels, many of which have a genetic component. This volume of Advances in Genetics presents a broad and comprehensive overview of the inherited channelopathies in humans, including clinical, genetic and molecular aspects of these conditions. Keeping true to the scope of the serial, novel genomic and modeling research approaches and a review of potential therapeutic approaches for each of these conditions are also incorporated.
Author: Roger N. Rosenberg
Publisher: Elsevier
ISBN: 0124105491
Category : Science
Languages : en
Pages : 1465
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Book Description
Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations
Author: Thomas T. Warner
Publisher: Elsevier Health Sciences
ISBN: 0702038458
Category : Medical
Languages : en
Pages : 343
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Book Description
This simple guide to neurogenetics demystifies the overwhelming amount of information on the subject so you can identify key clinical features and understand your management options. Reach relevant differential diagnoses and provide appropriate counseling to your patients using the symptom-based approach. By integrating genetic and neurological approaches to diagnoses, this book ensures that the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis are clear and explicit. Concise and portable, this book is ideal for easy reference in clinical use. Details the underlying basic science and clinical features of genetic disorders by taking a symptom-based approach to provide you with a comprehensive understanding of the field. Focuses on the clinical application of neurogenetics to be of practical use to you in the clinic. Clarifies the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis by integrating genetic and neurological approaches to diagnoses. Discusses and evaluates necessary investigations so you know when to use them and when to refer. Highlights diagnostic and therapeutic tips so you can learn new concepts or refine your skills in practice. Refers to online sources, such as Online Mendelian Inheritance in Man (OMIM) and others, to help you supplement your knowledge.
Author: Mohamed Chahine
Publisher: Springer
ISBN: 3319902849
Category : Medical
Languages : en
Pages : 448
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Book Description
This book provides a timely state-of-the-art overview of voltage-gated sodium channels, their structure-function, their pharmacology and related diseases. Among the topics discussed are the structural basis of Na+ channel function, methodological advances in the study of Na+ channels, their pathophysiology and drugs and toxins interactions with these channels and their associated channelopathies.
Author:
Publisher: Elsevier
ISBN: 0128203897
Category : Science
Languages : en
Pages : 442
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Book Description
The Handbook of Clinical Neurology series volumes provide comprehensive summaries of recent research on the brain and nervous system as they relate to clinical neurology. Cardiac disorders and diseases may often co-occur with, or cause, subsequent neurological disorders. Heart and Neurologic Disease identifies the top cardiac diseases and disorders most likely to have neurological disorders, how they will present, and how they are best treated. It identifies the mechanisms of action explaining why the conditions co-occur, and what clinicians should look for symptom wise, and how risk may be assessed. Coverage includes genetic cardiac disorders, cardiac trauma, surgery, infection, disease, and arrhythmia. - Identifies the top cardiac diseases and disorders most likely to have neurological complications - Specifies how the neurological complication will present and advance and how it should be treated - Discusses the mechanism of action—why the two conditions co-occur - Includes genetic conditions, trauma, surgery, infection, disease, arrythmias, and more - Covers prevention and risk assessment
Author: George Karpati
Publisher: Cambridge University Press
ISBN: 9780521650625
Category : Medical
Languages : en
Pages : 800
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Book Description
Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.
Author: Eduardo E. Benarroch
Publisher: Oxford University Press
ISBN: 0190209429
Category : Medical
Languages : en
Pages : 777
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Book Description
Fully updated and revised according to student feedback, the sixth edition of Mayo Clinic Medical Neurosciences: Organized by Neurologic System and Level provides a systematic approach to anatomy, physiology, and pathology of the nervous system inspired by the neurologist's approach to solving clinical problems. This volume has 4 sections: 1) an overview of the neurosciences necessary for understanding anatomical localization and pathophysiologic characterization of neurologic disorders; 2) an approach to localizing lesions in the 7 longitudinal systems of the nervous system; 3) an approach to localizing lesions in the 4 horizontal levels of the nervous system; and 4) a collection of clinical problems. This book provides the neuroscience framework to support the neurologist in a clinical setting and is also a great resource for neurology and psychiatry board certifications. This is the perfect guide for all medical students and neurology, psychiatry, and physical medicine residents at early stages of training. New to This Edition - A chapter devoted to multiple-choice questions for self-assessment - Discussion of emerging concepts in molecular, cellular, and system neurosciences - New chapters on emotion and consciousness systems - Incorporation of new discoveries in neuroimaging and an appendix for tables of medications commonly used to treat neurologic disorders
