Ion channel diseases / edited by Guy Rouleau, Claudia Gaspar. — Amsterdam ; Oxford : Elsevier Academic Press, c2008. – (58.14/A244/v.63) |
Contents
Contents
Contributors ix
Part I: Muscle Channelopathies 1
1 Periodic Paralysis 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 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 57
I. Introduction 58
II. The Migraine Attack: Clinical Phases and Pathophysiology 61
III. The Migraine Aura and Cortical Spreading Depression
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 Navl.7-Related Pain Syndromes 85
I. Introduction 86
II. Role of Nav 1.7 in Pain Syndromes: Animal Studies 90
III. Navl.7 and Inherited Pain Syndromes 92
IV. Conclusions 104
References 104
Part II: Internal Diseases 111
5 Channelopathies of Transepithelial Transport and Vesicular Function 113
I. Introduction 114
II. Disorders 116
III. Concluding Remarks 142
References 142
Index 153