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.

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

The New Benchmark for Understanding the Latest Developments of Ion ChannelsIon channels control the electrical properties of neurons and cardiac cells, mediate the detection and response to sensory stimuli, and regulate the response to physical stimuli. They can often interact with the cellular environment due to their location at the surface of ce

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.

Ion channels are intimately involved in the everyday physiological functions that enable us to live a full and varied life. When disease strikes, malfunction of ion channels or their dependent is often involved, either as the cause or the effect of the illness. Thus, billions of dollars have been, and still are being, invested in research to understand the physiological and pathophysiological functions of ion channels in an attempt to develop novel therapeutic treatments for a wide range of diseases. This book provides a comprehensive overview of ion channel structure and function. It comprises two major parts. Part one is an introductory overview of the ion channel superfamily and the generic aspects of ion channel function. This part also reviews the methodologies by which ion channel function can be studied from the perspective of performing detailed biophysical characterization through to the deployment of high throughput approaches for identifying novel ion channel ligands. Part two of the book provides an in-depth review of the individual ion channel subfamilies and, as such, is subdivided into four broad sections: Voltage-Gated Ion Channels, Extracellular Ligand-Gated Ion Channels, Intracellular Ligand-Gated Ion Channels, and Polymodal-Gated Ion Channels, with each chapter focused on specific family members. These chapters have been written by world leading experts and provide a detailed overview of the structure, biophysics, localization, pharmacology, physiology, and disease relevance of each particular ion channel subfamily. Reviewing both the basic principles of ion channel function and providing a detailed up-to-date review of the phsyiological and pharmacological aspects of individual ion channel sub-families, this book constitutes both an excellent introduction to the field for non-specialists, as well as a highly valuable reference text for experienced researchers already working in the ion channel area.

Ion channels are crucial components of living cells. Situated in the cell's membranes. they allow particular ions to pass from one side of the membrane to the other. In recent years the patch clamp technique has allowed the activity of individual channels to be measured, and recombinant DNA technology has led to fascinating detail on their structure. Together, these technical advances have produced a great flowering of knowledge and understanding about the subject, itself leading to further breakthroughs in science and medicine. Ion Channels provides an introduction to this scientific endeavour. It emphasises the molecular structure of channels as determined by gene cloning technology. This knowledge illuminates discussions of the permeability and selectivity of channels, their gating and modulation, their responses to drugs and toxins and the human diseases caused when they do not function properly.

The aim of the present book is to comprehensively review current advances in understanding of genetics, structural biology, pharmacology of potassium channels and their roles in disease as well as to identify current gaps in knowledge. The ultimate goal is to provide a scientific foundation for better understanding of modulatory mechanisms and pharmacology of potassium channels and to use this understanding to drive future drug discovery. This book will be a must-have for academic and industrial scientists interested in physiology, pharmacology, pathology and structure-functional relationships of ion channels. The book will also be helpful for lecturers and students in the college and university classrooms, as well as for anyone interested in the state-of-the art in modern cell biology, physiology and pharmacology.