Pub. Date:
Elsevier Science
Ion Channel Diseases

Ion Channel Diseases

by Elsevier Science


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Product Details

ISBN-13: 9780123745279
Publisher: Elsevier Science
Publication date: 12/11/2008
Series: Advances in Genetics Series , #63
Pages: 168
Product dimensions: 6.20(w) x 9.10(h) x 0.70(d)

Table of Contents

Contributors ix

Part I Muscle Channelopathies 1

1 Periodic Paralysis Bertrand Fontaine 3

I Introduction 4

II Hypokalemic Periodic Paralysis 4

III Hyperkalemic Periodic Paralysis 11

IV Other Types of Periodic Paralysis 14

V Functional Studies of Muscle Ion Channel Mutations in Patients 15

VI Treatment and Care of hypoPP Patients 17

VII Conclusion 18

References 18

2 Myotonia Congenita Christoph Lossin Alfred L. George, Jr. 25

I Introduction 26

II Clinical Aspects of Myotonia Congenita 26

III Molecular Genetics of Myotonia Congenita 32

IV Physiological Basis of Myotonia Congenita 40

V Myotonia Congenita in Animal Models 45

VI Treatment of Myotonia Congenita 46

VII Concluding Remarks 48

References 49

3 Familial Hemiplegic Migraine Curtis F. Barrett Arn M. J. M. van den Maagdenberg Rune R. Frants Michel D. Ferrari 57

I Introduction 58

II The Migraine Attack: Clinical Phases and Pathophysiology 61

III The Migraine Aura and Cortical Spreading Depression 61

IV Migraine as a Genetic Disorder 63

V Familial Hemiplegic Migraine: A Model for Common Migraine 65

VI Functional Consequences of FHM Mutations 68

VII FHM as an Ionopathy: Identifying a Common Theme Among FHM Subtypes 73

VIII Concluding Remarks 75

References 75

4 Genetics and Molecular Pathophysiology of Na[subscript v]1.7-Related Pain Syndromes Sulayman D. Dib-Hajj Yong Yang Stephen G. Waxman 85

I Introduction 86

II Role of Na[subscript v]1.7 in Pain Syndromes: Animal Studies 90

III Na[subscript v]1.7 and Inherited Pain Syndromes 92

IV Conclusions 104

References 104

Part II Internal Diseases 111

5 Channelopathies of Transepithelial Transport andVesicular Function Christian A. Hubner Thomas J. Jentsch 113

I Introduction 114

II Disorders 116

III Concluding Remarks 142

References 142

Index 153

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