Advances in genetics Volume 63, Ion channel diseases by Rouleau, Guy; Gaspar, Claudia, Ph. D instant download

Advances in genetics Volume 63, Ion channel diseases by Rouleau, Guy; Gaspar, Claudia, Ph. D instant download

1 online resource (x, 157 pages) :, 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 presents a broad and comprehensive overview of the inherited channelopathies in humans, including clinical, genetic and molecular aspects of these conditions, as well as novel genomic and modeling research approaches. Also included is a review of potential therapeutic approaches for each of these conditions, Includes bibliographical references and index, Print version record, Front Cover; Ion Channel Diseases; Copyright Page; Contents; Contributors; Part I: Muscle Channelopathies; Chapter 1: Periodic Paralysis; I. Introduction; III. Hyperkalemic Periodic Paralysis; IV. Other Types of Periodic Paralysis; VI. Treatment and Care of hypoPP Patients; VII. Conclusion; Acknowledgments; I. Introduction; V. Myotonia Congenita in Animal Models; Acknowledgments; References; Chapter 3: Familial Hemiplegic Migraine; II. The Migraine Attack: Clinical Phases and Pathophysiology; III. The Migraine Aura and Cortical Spreading Depression; IV. Migraine as a Genetic Disorder, VI. Functional Consequences of FHM MutationsVIII. Concluding Remarks; Acknowledgments; Acknowledgments; Part II: Internal Diseases; Chapter 5: Channelopathies of Transepithelial Transport and Vesicular Function; I. Introduction; II. Disorders; III. Concluding Remarks; References; Index