Channelopathies (eBook)

Cover 1
Contents 14
Foreword 8
Preface 10
Introduction 12
Part 1: Muscle diseases 16
Chapter 1. Sodium and calcium channelopathies of sarcolemma: periodic paralyses, paramyotonia congenita and potassium-aggravated myotonia 18
Chapter 2. Muscle chloride channelopathies: myotonia congenita 48
Chapter 3. Molecular aspects of malignant hyperthermia and central core disease 70
Chapter 4. Mutations affecting muscle nicotinic acetylcholine receptors and their role in congenital myasthenic syndromes 100
Chapter 5. Ion channel defects in primary electrical diseases of the heart 130
Part 2: Neuronal diseases 168
Chapter 6. Migraine and ataxias 170
Chapter 7. Genetic analysis of idiopathic epilepsies: the role of ion channel mutations 196
Chapter 8. The inhibitory glycine receptor as a model of hereditary channelopathies 214
Part 3: Internal diseases 240
Chapter 9. Cystic fibrosis 242
Chapter 10. Dent’s disease: an hereditary nephrolithiasis caused by dysfunction of a voltage-gated chloride channel 270
Chapter 11. Liddle’s syndrome and pseudohypoaldosteronism type I 292
Chapter 12. The role of ATP-sensitive K+ channels in familial hyperinsulinism 314
Chapter 13. Hereditary hypokalemic salt-losing tubulopathies 342
Overview 370
Table of known channelopathies 370
Subject Index 376