Ion Channel Diseases (eBook)

Claudia Gaspar, Guy Rouleau (Herausgeber)

eBook Download: PDF

2011 | 1. Auflage
168 Seiten
Elsevier Science (Verlag)
978-0-08-092310-9 (ISBN)

Infos

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.

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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.

Inhalt

Front Cover 1
Ion Channel Diseases 4
Copyright Page 5
Contents 6
Contributors 10
Part I: Muscle Channelopathies 12
Chapter 1: Periodic Paralysis 14
I. Introduction 15
II. Hypokalemic Periodic Paralysis 15
III. Hyperkalemic Periodic Paralysis 22
IV. Other Types of Periodic Paralysis 25
V. Functional Studies of Muscle Ion Channel Mutations in Patients 26
VI. Treatment and Care of hypoPP Patients 28
VII. Conclusion 29
Acknowledgments 29
References 29
Chapter 2: Myotonia Congenita 36
I. Introduction 37
II. Clinical Aspects of Myotonia Congenita 37
III. Molecular Genetics of Myotonia Congenita 43
IV. Physiological Basis of Myotonia Congenita 51
V. Myotonia Congenita in Animal Models 56
VI. Treatment of Myotonia Congenita 57
VII. Concluding Remarks 59
Acknowledgments 59
References 60
Chapter 3: Familial Hemiplegic Migraine 68
I. Introduction 69
II. The Migraine Attack: Clinical Phases and Pathophysiology 72
III. The Migraine Aura and Cortical Spreading Depression 72
IV. Migraine as a Genetic Disorder 74
V. Familial Hemiplegic Migraine: A Model for Common Migraine 76
VI. Functional Consequences of FHM Mutations 79
VII. FHM as an Ionopathy: Identifying a Common Theme among FHM Subtypes 84
VIII. Concluding Remarks 86
Acknowledgments 86
References 86
Chapter 4: Genetics and Molecular Pathophysiology of Nav1.7-Related Pain Syndromes 96
I. Introduction 97
II. Role of Nav1.7 in Pain Syndromes: Animal Studies 101
III. Nav1.7 and Inherited Pain Syndromes 103
IV. Conclusions 115
Acknowledgments 115
References 115
Part II: Internal Diseases 122
Chapter 5: Channelopathies of Transepithelial Transport and Vesicular Function 124
I. Introduction 125
II. Disorders 127
III. Concluding Remarks 153
References 153
Index 164

Produkt-Details

• Erscheint lt. Verlag: 6.9.2011
• Sprache: englisch
• Themenwelt: Medizin / Pharmazie ► Medizinische Fachgebiete
• Themenwelt: Naturwissenschaften ► Biologie ► Evolution
• Themenwelt: Naturwissenschaften ► Biologie ► Mikrobiologie / Immunologie
• Themenwelt: Naturwissenschaften ► Biologie ► Ökologie / Naturschutz
• Themenwelt: Naturwissenschaften ► Biologie ► Zellbiologie
• Themenwelt: Technik
• ISBN-10: 0-08-092310-0 / 0080923100
• ISBN-13: 978-0-08-092310-9 / 9780080923109