Ion Channels in Health and Disease provides key insight to allow researchers to generate discoveries across disease states. A single resource that integrates disparate areas of biology and disease ion channel biology, this publication includes cross-referencing for disease, channels, and tissues. Offers a broad view of research of interest to early and experienced researchers across biological and biomedical research.

Includes index.

Online resource; title from PDF title page (ScienceDirect, viewed July 20, 2016).

Includes bibliographical references and index.

Front Cover; ION CHANNELS IN HEALTH AND DISEASE; Series Editor ; Ion Channels in Health and Disease; Copyright; Contents; List of Contributors; Preface; 1 -- The KCNE Family of Ion Channel Regulatory Subunits; INTRODUCTION; THE MECHANISTIC BASIS FOR FUNCTION OF KCNE PROTEINS; KCNE Regulation of KCNQ1 Channel Gating, Conductance, Ion Selectivity, and Pharmacology; ROLES OF KCNE SUBUNITS IN CARDIAC ION CURRENTS AND ARRHYTHMOGENESIS; KCNE1 in Human and Mouse Heart; KCNE2-5 in Human Heart; Consequences of Kcne Gene Knockout in Mice; CONCLUSIONS AND FUTURE QUESTIONS; References

2 -- Ion Channel Trafficking INTRODUCTION; CARDIOMYOCYTE ORGANIZATION; Intercalated Discs; T-Tubules; Membrane Microdomains; TRAFFICKING IN HEALTHY AND DISEASED HEARTS; Ion Channel Forward Trafficking; Forward Trafficking: Normal Physiology; Maturation and Exiting Endoplasmic Reticulum; Sorting in the Trans-Golgi Network; Vesicular Traffic on the Cytoskeleton Highway; Insertion of Ion Channels Into the Sarcolemma; Introduction to Targeted Delivery; Targeted Delivery of Cx43 and Cav1.2 Channels; Membrane Anchors in Targeted Delivery; Cytoskeleton in Targeted Delivery

Accessory Proteins in Targeted DeliveryForward Trafficking: Pathophysiology; Channels Regulation Once in Membrane Subdomains; Membrane Subdomains: Normal Physiology; Intercalated Discs; T-Tubules; Membrane Subdomains: Pathophysiology; Channel Internalization; Internalization: Normal Physiology; Internalization: Pathophysiology; CONCLUSIONS; References; 3 -- Ryanodine Receptor Channelopathies in Skeletal and Cardiac Muscle; INTRODUCTION TO RYANODINE RECEPTORS; RYR1 MYOPATHIES

Acute or Evoked RyR1 Channelopathies: Malignant Hyperthermia, Enhanced Sensitivity to Heat, and Exercise-Induced RhabdomyolysisCongenital RYR1 Myopathies; RYR2-LINKED MYOPATHIES; Catecholaminergic Polymorphic Ventricular Tachycardia; Arrhythmogenic Right Ventricular Cardiomyopathy; SUMMARY/CONCLUSION; References; 4 -- Dravet Syndrome: A Sodium Channel Interneuronopathy; INTRODUCTION; VOLTAGE-GATED SODIUM CHANNELS; NAV1.1 CHANNELS AND INHERITED EPILEPSY; DRAVET SYNDROME; EPILEPSY AND PREMATURE DEATH IN DRAVET SYNDROME; COMORBIDITIES IN A MOUSE MODEL OF DRAVET SYNDROME

GENETIC AND PHARMACOLOGICAL TREATMENT OF DRAVET SYNDROMEGENETIC BACKGROUND EFFECTS IN DRAVET SYNDROME; GENETIC DISSECTION OF PHENOTYPES IN DRAVET SYNDROME; DRAVET SYNDROME AS A SODIUM CHANNEL INTERNEURONOPATHY; CONTRASTING VIEWS FROM STUDIES OF HUMAN-INDUCED PLURIPOTENT STEM CELLS; References; 5 -- Diagnosis, Treatment, and Mechanisms of Long QT Syndrome ; INTRODUCTION; DIAGNOSIS OF LONG QT SYNDROME; CLINICAL COURSE; GENES RESPONSIBLE FOR LONG QT SYNDROME (SEE TABLE 5.1); KCNQ1 (KV7.1, KVLQT1) (LQT1); KCNH2 (KV11.1, hERG) (LQT2); SCN5A (NaV1.5) (LQT3); ANK2 (LQT4); KCNE1 (LQT5); KCNE2 (LQT6)

Elsevier ScienceDirect All Books