| Description |
1 online resource (xiv, 368 pages) : illustrations |
| Contents |
Cover -- Contents -- Foreword -- Preface -- Introduction -- Part 1: Muscle diseases -- Chapter 1. Sodium and calcium channelopathies of sarcolemma: periodic paralyses, paramyotonia congenita and potassium-aggravated myotonia -- Chapter 2. Muscle chloride channelopathies: myotonia congenita -- Chapter 3. Molecular aspects of malignant hyperthermia and central core disease -- Chapter 4. Mutations affecting muscle nicotinic acetylcholine receptors and their role in congenital myasthenic syndromes -- Chapter 5. Ion channel defects in primary electrical diseases of the heart -- Part 2: Neuronal diseases -- Chapter 6. Migraine and ataxias -- Chapter 7. Genetic analysis of idiopathic epilepsies: the role of ion channel mutations -- Chapter 8. The inhibitory glycine receptor as a model of hereditary channelopathies -- Part 3: Internal diseases -- Chapter 9. Cystic fibrosis -- Chapter 10. Dent's disease: an hereditary nephrolithiasis caused by dysfunction of a voltage-gated chloride channel -- Chapter 11. Liddle's syndrome and pseudohypoaldosteronism type I -- Chapter 12. The role of ATP-sensitive K+ channels in familial hyperinsulinism -- Chapter 13. Hereditary hypokalemic salt-losing tubulopathies -- Overview -- Table of known channelopathies -- Subject Index -- Last Page |
| Summary |
This book describes human hereditary ion channel diseases of voltage- and ligand-gated ion channels covering the diverse fields of medicine myology, neurology, cardiology, and nephrology requiring a wide and interdisciplinary readership. Interesting parallels in pathogenetic mechanisms of disease are especially emphasized to interest even highly specialized readers in entities outside of their fields. Each author has written an objective overview of his or her particular subject in a way that should allow the reader within a short period of time to obtain a comprehensive picture of the present state of art |
| Bibliography |
Includes bibliographical references and index |
| Notes |
English |
|
Print version record |
| Subject |
Ion channels.
|
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Pathology, Molecular.
|
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Ion Channels -- metabolism
|
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Ion Channels
|
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Pathology, Molecular
|
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Alkalosis -- physiopathology
|
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Arrhythmias, Cardiac -- physiopathology
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Epilepsy -- physiopathology
|
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Molecular Biology
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Ion channels.
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Pathology, Molecular.
|
| Form |
Electronic book
|
| Author |
Jurkat-Rott, Karin
|
|
Lehmann-Horn, Frank
|
| ISBN |
9780444504890 |
|
0444504893 |
|
0080528856 |
|
9780080528854 |
|
1281026247 |
|
9781281026248 |
|
9786611026240 |
|
661102624X |
|
