Ion Channels and Disease - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Ion Channels and Disease write by Frances M. Ashcroft. This book was released on 1999-10-20. Ion Channels and Disease available in PDF, EPUB and Kindle. 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
Voltage-gated Sodium Channels: Structure, Function and Channelopathies
Voltage-gated Sodium Channels: Structure, Function and Channelopathies - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Voltage-gated Sodium Channels: Structure, Function and Channelopathies write by Mohamed Chahine. This book was released on 2018-06-04. Voltage-gated Sodium Channels: Structure, Function and Channelopathies available in PDF, EPUB and Kindle. 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.
Sudden Cardiac Death and Channelopathies
Sudden Cardiac Death and Channelopathies - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Sudden Cardiac Death and Channelopathies write by Giannis G. Baltogiannis. This book was released on 2021-01-11. Sudden Cardiac Death and Channelopathies available in PDF, EPUB and Kindle.
Neurologic Channelopathies
Neurologic Channelopathies - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Neurologic Channelopathies write by . This book was released on 2024-10-25. Neurologic Channelopathies available in PDF, EPUB and Kindle. 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
Neurogenetics
Neurogenetics - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Neurogenetics write by Nicholas Wood. This book was released on 2012-04-12. Neurogenetics available in PDF, EPUB and Kindle. A coherent, up-to-date overview of the rapidly advancing field of neurogenetics for neurologists of any level.
