Ion Channel Diseases 1st Edition by Guy Rouleau, Claudia Gaspar ISBN 0123745276 9780123745279

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ISBN 10: 0123745276 
ISBN 13: 9780123745279
Author: Guy Rouleau, Claudia Gaspar

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 Channel Diseases 1st Table of contents:

Part I: Muscle Channelopathies
Chapter 1: Periodic Paralysis
I. Introduction
II. Hypokalemic Periodic Paralysis
III. Hyperkalemic Periodic Paralysis
IV. Other Types of Periodic Paralysis
V. Functional Studies of Muscle Ion Channel Mutations in Patients
VI. Treatment and Care of hypoPP Patients
VII. Conclusion
Acknowledgments
References
Chapter 2: Myotonia Congenita
I. Introduction
II. Clinical Aspects of Myotonia Congenita
III. Molecular Genetics of Myotonia Congenita
IV. Physiological Basis of Myotonia Congenita
V. Myotonia Congenita in Animal Models
VI. Treatment of Myotonia Congenita
VII. Concluding Remarks
Acknowledgments
References
Chapter 3: Familial Hemiplegic Migraine
I. Introduction
II. The Migraine Attack: Clinical Phases and Pathophysiology
III. The Migraine Aura and Cortical Spreading Depression
IV. Migraine as a Genetic Disorder
V. Familial Hemiplegic Migraine: A Model for Common Migraine
VI. Functional Consequences of FHM Mutations
VII. FHM as an Ionopathy: Identifying a Common Theme among FHM Subtypes
VIII. Concluding Remarks
Acknowledgments
References
Chapter 4: Genetics and Molecular Pathophysiology of Nav1.7-Related Pain Syndromes
I. Introduction
II. Role of Nav1.7 in Pain Syndromes: Animal Studies
III. Nav1.7 and Inherited Pain Syndromes
IV. Conclusions
Acknowledgments
References
Part II: Internal Diseases
Chapter 5: Channelopathies of Transepithelial Transport and Vesicular Function
I. Introduction
II. Disorders
III. Concluding Remarks

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Guy Rouleau,Claudia Gaspar,Ion Channel