Channelopathies
Regular price
120.250 KD
inc. VAT
Couldn't load pickup availability
Table of contents
- Cover
- Contentsxiii
- Forewordvii
- Prefaceix
- Introductionxi
- Part 1: Muscle diseases1
- Chapter 1. Sodium and calcium channelopathies of sarcolemma: periodic paralyses, paramyotonia congen3
- Chapter 2. Muscle chloride channelopathies: myotonia congenita33
- Chapter 3. Molecular aspects of malignant hyperthermia and central core disease55
- Chapter 4. Mutations affecting muscle nicotinic acetylcholine receptors and their role in congenital85
- Chapter 5. Ion channel defects in primary electrical diseases of the heart115
- Part 2: Neuronal diseases153
- Chapter 6. Migraine and ataxias155
- Chapter 7. Genetic analysis of idiopathic epilepsies: the role of ion channel mutations181
- Chapter 8. The inhibitory glycine receptor as a model of hereditary channelopathies199
- Part 3: Internal diseases225
- Chapter 9. Cystic fibrosis227
- Chapter 10. Dent’s disease: an hereditary nephrolithiasis caused by dysfunction of a voltage-gated255
- Chapter 11. Liddle’s syndrome and pseudohypoaldosteronism type I277
- Chapter 12. The role of ATP-sensitive K+ channels in familial hyperinsulinism299
- Chapter 13. Hereditary hypokalemic salt-losing tubulopathies327
- Overview355
- Table of known channelopathies355
- Subject Index361
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.