Download or read book Neurologic Channelopathies written by and published by Elsevier. This book was released on 2024-10-25 with total page 294 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Channelopathies of the Nervous System written by Michael Rose and published by Butterworth-Heinemann. This book was released on 2001 with total page 376 pages. Available in PDF, EPUB and Kindle. Book excerpt: * 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
Download or read book New Insights in Skeletal Muscle Channelopathies A Rapidly Expanding Field written by Lorenzo Maggi and published by Frontiers Media SA. This book was released on 2021-02-04 with total page 119 pages. Available in PDF, EPUB and Kindle. Book excerpt: Jean-François Desaphy is a co-inventor, with no personal financial interest, of a European patent assigned to a pharmaceutical company regarding the use of a company drug in myotonic syndromes.
Download or read book Pediatric Neurology Part III written by Bertrand Fontaine and published by Elsevier Inc. Chapters. This book was released on 2013-04-24 with total page 15 pages. Available in PDF, EPUB and Kindle. Book excerpt: Muscle channelopathies and related disorders are neuromuscular disorders predominantly of genetic origin which are caused by mutations in ion channels or genes that play a role in muscle excitability. They include different forms of periodic paralysis which are characterized by acute and reversible attacks of muscle weakness concomitant to changes in blood potassium levels. These disorders may also present as distinguishable myotonic syndromes (slowed muscle relaxation) which have in common lack of involvement of dystrophic changes of the muscle, in contrast to dystrophia myotonica. Recent advances have been made in the diagnosis of these different disorders, which require, in addition to a careful clinical evaluation, detailed EMG and molecular study. Although these diseases are rare, they deserve attention since patients may benefit from drugs which can dramatically improve their condition. Patients may have atypical presentations, sometimes life-threatening, which may delay a proper diagnosis, mostly in the first months of life. The creation of specialized reference centers in the Western world has greatly benefited the proper recognition of these neuromuscular diseases.
Download or read book Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Elsevier. This book was released on 2014-10-28 with total page 1465 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Ion Channel Diseases written by and published by Academic Press. This book was released on 2011-09-06 with total page 168 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Neurogenetics written by Nicholas Wood and published by Cambridge University Press. This book was released on 2012-04-12 with total page 251 pages. Available in PDF, EPUB and Kindle. Book excerpt: A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.
Download or read book Jasper s Basic Mechanisms of the Epilepsies written by Jeffrey Noebels and published by OUP USA. This book was released on 2012-06-29 with total page 1258 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book The Little Black Book of Neurology E Book written by Osama O. Zaidat and published by Elsevier Health Sciences. This book was released on 2019-04-30 with total page 640 pages. Available in PDF, EPUB and Kindle. Book excerpt: Widely known and well-respected, The Little Black Book of Neurology has been a thorough yet portable reference in this complex field for more than 30 years, presenting definitions, classifications, and guidance on diagnosis and management for a wide range of neurological disorders. The 6th Edition offers updated and expanded coverage of neuropharmacology and neuroimaging – plus a new, more user-friendly, fast-access format that makes the book ideal for quick clinical consultation or as a refresher for the Boards. Presents a comprehensive, yet concise, "all-in-one" introduction to neurology in a portable, alphabetical format – now newly structured to make reference faster and easier than ever. Enables you to access critical guidance at a glance with new tables of differential diagnosis, patient evaluation, and treatment options. Covers many new topics including significantly expanded sections on sleep, neuromuscular disorders, and critical care. Includes four new appendices: Neurocritical Emergencies • Therapeutic Care • AAN Guideline Summaries • and Scales – highlighting evidence-based guidelines when available, enabling you to make more informed clinical judgments. Offers updated and expanded coverage of neuropharmacology and neuroimaging.
Download or read book Channelopathies written by F. Lehmann-Horn and published by Elsevier. This book was released on 2000-11-16 with total page 383 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Heart and Neurologic Disease written by and published by Elsevier. This book was released on 2021-02-23 with total page 442 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Neuromuscular Disorders Management and Treatment E Book written by Tulio E. Bertorini and published by Elsevier Health Sciences. This book was released on 2010-09-08 with total page 469 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neuromuscular Disorders presents a multi-disciplinary approach to the management and therapeutic treatment of the full range of neuromuscular disorders and resulting complications. Dr. Tulio Bertorini and a contributing team of the world’s leading authorities in the field provide the latest tools and strategies for minimizing disability and maximizing quality of life. Effectively treat your patients using the latest management tools and targeted therapeutic strategies. Manage all neuromuscular disorders as well as resulting complications through comprehensive coverage of diagnosis and evaluations, treatments, and outcomes. Apply the multi-disciplinary approach of an expert in clinical neuromuscular care and a team of world-renown contributors. Easily refer to tools for diagnosis, treatment algorithms, and drug tables included throughout the text.
Download or read book Voltage gated Sodium Channels Structure Function and Channelopathies written by Mohamed Chahine and published by Springer. This book was released on 2018-06-04 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Myopathies An Issue of Neurologic Clinics written by Mazen Dimachkie and published by Elsevier Health Sciences. This book was released on 2014-08-28 with total page 305 pages. Available in PDF, EPUB and Kindle. Book excerpt: Congential myopathies, Muscular dystropies, Glycogen storage diseases of muscle, and Idiopathic and Inflammatory myopathies are presented in this volume of Neurologic Clinics. Topics include: Muscle channelopathies; Pompe disease; Congenital myopathies and muscular dystrophies; Duchenne and Becker muscular dystrophies; Distal myopathies; Limb-girdle muscular dystrophy; Fascioscapulomuneral muscular dystrophy; Myotonic dystrophy; Metabolic and mitochondrial myopathies; Sporadic inclusion body myositis; Toxic myopathies; Idiopathic Inflammatory myopathies; Approach to muscle disease.
Download or read book Disorders of Voluntary Muscle written by George Karpati and published by Cambridge University Press. This book was released on 2001-07-12 with total page 800 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.
Download or read book Neuroscience for Clinicians written by Eduardo E. Benarroch and published by Oxford University Press. This book was released on 2021 with total page 833 pages. Available in PDF, EPUB and Kindle. Book excerpt: "The aim of this book is to provide the clinician with a comprehensive and clinical relevant survey of emerging concepts on the organization and function of the nervous system and neurologic disease mechanisms, at the molecular, cellular and system levels. The content of is based on the review of information obtained from recent advances in genetic, molecular and cell biology techniques, electrophysiological recordings, brain mapping, and mouse models, emphasizing the clinical and possible therapeutic implications. Many chapters of this book contain information that will be relevant not only clinical neurologists but also to psychiatrists and physical therapists. The scope includes the mechanisms and abnormalities of DNA/RNA metabolism, proteostasis, vesicular biogenesis, and axonal transport and mechanisms of neurodegeneration; the role of the mitochondria in cell function and death mechanisms; ion channels, neurotransmission and mechanisms of channelopathies and synaptopathies; the functions of astrocytes, oligodendrocytes and microglia and their involvement in disease; the local circuits and synaptic interactions at the level of the cerebral cortex, thalamus, basal ganglia, cerebellum, brainstem and spinal cord transmission regulating sensory processing, behavioral state and motor functions; the peripheral and central mechanisms of pain and homeostasis; and networks involved in emotion, memory, language, and executive function"--
Download or read book Ion Channels and Disease written by Frances M. Ashcroft and published by Academic Press. This book was released on 1999-10-20 with total page 505 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ion channels are membrane proteins that act as gated pathways for the movement of ions across cell membranes. They play essential roles in the physiology of all cells. In recent years, an ever-increasing number of human and animal diseases have been found to result from defects in ion channel function. Most of these diseases arise from mutations in the genes encoding ion channel proteins, and they are now referred to as the channelopathies. Ion Channels and Disease provides an informative and up-to-date account of our present understanding of ion channels and the molecular basis of ion channel diseases. It includes a basic introduction to the relevant aspects of molecular biology and biophysics and a brief description of the principal methods used to study channelopathies. For each channel, the relationship between its molecular structure and its functional properties is discussed and ways in which genetic mutations produce the disease phenotype are considered. This book is intended for research workers and clinicians, as well as graduates and advanced undergraduates. The text is clear and lively and assumes little knowledge, yet it takes the reader to frontiers of what is currently known about this most exciting and medically important area of physiology. Introduces the relevant aspects of molecular biology and biophysics Describes the principal methods used to study channelopathies Considers single classes of ion channels with summaries of the physiological role, subunit composition, molecular structure and chromosomal location, plus the relationship between channel structure and function Looks at those diseases associated with defective channel structures and regulation, including mutations affecting channel function and to what extent this change in channel function can account for the clinical phenotype
