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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