Neurologic Channelopathies
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Author | : |
Publisher | : Elsevier |
Total Pages | : 294 |
Release | : 2024-08-20 |
Genre | : Medical |
ISBN | : 0323908217 |
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 | : |
Publisher | : Academic Press |
Total Pages | : 168 |
Release | : 2011-09-06 |
Genre | : Science |
ISBN | : 0080923100 |
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 | : Nicholas Wood |
Publisher | : Cambridge University Press |
Total Pages | : 251 |
Release | : 2012-04-12 |
Genre | : Medical |
ISBN | : 052154372X |
A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.
Author | : Roger N. Rosenberg |
Publisher | : Elsevier |
Total Pages | : 1465 |
Release | : 2014-10-28 |
Genre | : Science |
ISBN | : 0124105491 |
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 | : Michael Rose |
Publisher | : Butterworth-Heinemann |
Total Pages | : 376 |
Release | : 2001 |
Genre | : Medical |
ISBN | : |
* 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 | : Elsevier |
Total Pages | : 442 |
Release | : 2021-02-23 |
Genre | : Science |
ISBN | : 0128203897 |
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 | : Tulio E. Bertorini |
Publisher | : Elsevier Health Sciences |
Total Pages | : 469 |
Release | : 2010-09-08 |
Genre | : Medical |
ISBN | : 1437736408 |
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.
Author | : Mohamed Chahine |
Publisher | : Springer |
Total Pages | : 448 |
Release | : 2018-06-04 |
Genre | : Medical |
ISBN | : 3319902849 |
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 | : Jeffrey Noebels |
Publisher | : OUP USA |
Total Pages | : 1258 |
Release | : 2012-06-29 |
Genre | : Medical |
ISBN | : 0199746540 |
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.
Author | : Osama O. Zaidat |
Publisher | : Elsevier Health Sciences |
Total Pages | : 821 |
Release | : 2019-04-30 |
Genre | : Medical |
ISBN | : 032355072X |
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.