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
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 450 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 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 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 Sudden Cardiac Death and Channelopathies written by Giannis G. Baltogiannis and published by Frontiers Media SA. This book was released on 2021-01-11 with total page 135 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 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 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 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 Channelopathies in Heart Disease written by Dierk Thomas and published by Springer. This book was released on 2018-09-10 with total page 436 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides an expert overview on ion channel-related arrhythmia mechanisms, and describes important advances in our understanding of how ion channel dysfunction causes cardiac disease. Both, scientific findings and clinical implications are presented and discussed by scientists who have considerably contributed to the field. The book is organized in three parts: part I treats the molecular and electrophysiological mechanisms of function and dysfunction of ion channels, part II focuses on genetics and clinical findings, whereas part III describes novel research techniques, the use of stem cells and animal models and provides an outlook on future investigations and applications. The book is written for scientists in Cardiovascular Biology and Neuroscience and will be of general interest to Medical Doctors in Cardiology, Cardiac Electrophysiology and related disciplines.
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 Molecular Cardiology written by Zhongjie Sun and published by Springer Science & Business Media. This book was released on 2008-02-01 with total page 410 pages. Available in PDF, EPUB and Kindle. Book excerpt: The aim of Molecular Cardiology: Methods and Protocols is to document state-of-the-art molecular and genetic techniques in the area of cardiology. These modern approaches enable researchers to readily study heart diseases at the molecular level and will promote the development of new therapeutic str- egies. Methods for genetic dissection, signal transduction, and microarray analysis are excellent tools for the study of the molecular mechanisms of cardiovascular diseases. Protocols for transgenesis take advantage of recent advances in many areas of molecular and cell biology. Transgenic models of heart diseases (cardiac hypertrophy, cardiac dysfunction, and so on. ) are powerful tools for the study of heart disease pathogenesis. Methods for gene transfer to heart tissue using viral and nonviral vectors form the basis of gene therapy for heart diseases. Heart-specific promoters containing a hypox- inducible cardioprotective gene switch are key for protection of the heart from ischemia. Gene and stem cell therapies open novel and exciting avenues for the prevention and treatment of heart diseases. Molecular Cardiology: Methods and Protocols consists of 26 chapters de- ing with various aspects of molecular cardiology, including gene transfer and gene therapy for cardiovascular disease, stem cell therapy for cardiovascular disease, gene analysis in the injured and hypertrophied heart, and transgenesis in cardiovascular research. This book provides step-by-step methods for the successful completion of experimental procedures, and would be useful for both experienced and new investigators in the field of molecular cardiology.
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 written by Peter C. Ruben and published by Springer Science & Business Media. This book was released on 2014-04-15 with total page 328 pages. Available in PDF, EPUB and Kindle. Book excerpt: A number of techniques to study ion channels have been developed since the electrical basis of excitability was first discovered. Ion channel biophysicists have at their disposal a rich and ever-growing array of instruments and reagents to explore the biophysical and structural basis of sodium channel behavior. Armed with these tools, researchers have made increasingly dramatic discoveries about sodium channels, culminating most recently in crystal structures of voltage-gated sodium channels from bacteria. These structures, along with those from other channels, give unprecedented insight into the structural basis of sodium channel function. This volume of the Handbook of Experimental Pharmacology will explore sodium channels from the perspectives of their biophysical behavior, their structure, the drugs and toxins with which they are known to interact, acquired and inherited diseases that affect sodium channels and the techniques with which their biophysical and structural properties are studied.
Download or read book Essential Cardiac Electrophysiology written by Zainul Abedin and published by John Wiley & Sons. This book was released on 2008-04-15 with total page 313 pages. Available in PDF, EPUB and Kindle. Book excerpt: This concise collection of electrophysiological facts prepares you to face the clinical questions surrounding arrhythmia and conduction disorders with confidence. Clear and direct, the book offers: succinct factual information supported by illustrations, tables, and references self-assessment questions for each chapter, to test your knowledge of the area Essential Cardiac Electrophysiology summarizes the fundamental information that forms the basis of the modern approach to cardiac arrhythmias, from an explanation of the electrophysiologic effects of cardiac ion channel activity to the latest information on available implantable defibrillators. All members of the cardiac care team will benefit from keeping this valuable guide close at hand.
Download or read book Neuromuscular Case Studies E Book written by Tulio E. Bertorini and published by Elsevier Health Sciences. This book was released on 2008-05-14 with total page 632 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this unique book, Dr. Bertorini guides you through more than 100 cases that demonstrate the diagnosis and management of a wide range of common and rare neuromuscular disorders. No other reference boasts such a large array of clinical studies devoted to all areas of this broad topic! Each case study reviews the etiologies, pathogenesis, differential diagnosis, and management of a particular disorder, helping you not only recognize its presentation, but also determine a diagnosis and the best treatment plans for your patients. You’ll also find expert guidance on the basic mechanisms of neuromuscular disorders, clinical examination, and diagnostic tests—including EMG, muscle biopsy, genetic testing, and more. More than 100 detailed case studies explore both common and rare neuromuscular disorders and the treatment protocols for each, equipping you with the knowledge you need to confidently manage any challenge. Each case includes a summary of important points or highlights of the study. Case studies are arranged either by complaint or by diagnosis so that you can successfully manage your patients with or without an initial diagnosis. Comprehensive coverage of EMGs and nerve conduction studies and other diagnostic tests, including muscle and nerve biopsies and genetic testing, helps you accurately diagnose nerve, muscle, and neuromuscular transmission disorders. Detailed discussions of treatment plans and commonly used drugs enhance your management of autoimmune disorders, painful neuropathy, dysautonomia, and other neuromuscular disorders. A reader-friendly format takes you step by step through the diagnosis and treatment of neuromuscular disorders, from the basic anatomy and physiology of the nerve and muscle through to clinical evaluation, diagnostic testing, and therapy. More than 350 high-quality illustrations, including full-color patient photographs, biopsies, and EMG tracings, make complex concepts easier to understand and apply.
