Neurologic channelopathies /
In the last 15 years, a combination of detailed clinical, genetic, molecular electrophysiological and immunological research has combined to result in a deep understanding of a subgroup of neurological diseases spanning the central and peripheral nervous system and which have become known collective...
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| Format: | eBook |
| Language: | English |
| Published: |
Amsterdam :
Elsevier,
2024.
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| Series: | Handbook of clinical neurology ;
v. 203 |
| Subjects: | |
| Online Access: | Connect to the full text of this electronic book |
Table of Contents:
- Intro
- Neurologic Channelopathies
- Copyright
- Handbook of Clinical Neurology 3rd Series
- Foreword
- Preface
- Genetic and autoimmune mechanisms
- Common pathophysiologic themes across muscle, nerve, and the brain
- Genomic sequencing for precision diagnostics and the challenge of variants of uncertain significance in ion channel genes
- This Volume
- Contributors
- Contents
- Chapter 1: Structure-function and pharmacologic aspects of ion channels relevant to neurologic channelopathies
- Introduction
- Classification of Ion Channels
- Genetics
- Structure-Function
- Tetrameric potassium channels
- Inward rectifying potassium channels
- Tandem pore domain potassium channels
- Voltage-gated potassium channels
- Transient receptor potential channels
- Voltage-gated sodium and calcium channels
- Voltage-gated chloride channels
- Ligand-gated channels
- Pentameric ligand-gated ion channels (Cys-loop channels)
- Ionotropic glutamate receptors
- Trimeric channels
- Pharmacology
- References
- Chapter 2: Inherited myotonias
- Introduction
- Clinical Features
- Myotonia congenita
- Paramyotonia congenita and sodium channel myotonia
- Myotonic dystrophies
- Life course of inherited myotonias
- Pathophysiology
- Myotonia congenita
- Myotonic dystrophy
- Paramyotonia congenita and sodium channel myotonia
- Diagnostic Approach
- Clinical evaluation
- Neurophysiology
- Imaging and histology
- Functional genetics
- Treatment and Management Approach
- Lifestyle measures
- Pharmacotherapy
- Pregnancy and anesthesia
- Conclusion
- References
- Chapter 3: Periodic paralysis
- Introduction
- Clinical presentation
- Shared pathomechanism for episodic weakness in all forms of periodic paralysis
- Clinical spectrum of nondystrophic myotonia and periodic paralysis
- Approaches to diagnosis in periodic paralysis
- Overview of therapeutic intervention in periodic paralysis
- Hypokalemic Periodic Paralysis
- Clinical features and diagnosis (HypoPP)
- Ion channel mutations and pathophysiology (HypoPP)
- Investigational approaches for pharmacologic management of episodic weakness (HypoPP)
- HyperPP/PMC
- Clinical features and diagnosis (HyperPP/PMC)
- Ion channel mutations and pathophysiology (HyperPP/PMC)
- Andersen Tawil Syndrome
- Thyrotoxic Periodic Paralysis
- Clinical features and diagnosis (TPP)
- Ion channel mutations (TPP)
- Rare Variants of Atypical Periodic Paralysis
- Myopathy and myasthenic syndromes with recessive SCN4A variants
- Ryanodine receptor-associated atypical periodic paralysis
- Na/K-ATPase associated periodic paralysis plus seizures
- Conclusions
- Acknowledgments
- References
- Chapter 4: Andersen-Tawil syndrome
- Introduction
- Epidemiology
- Relation to Other Periodic Paralyzes
- Clinical Manifestations: Weakness
- Clinical Manifestations: Cardiac Arrhythmias
- Clinical Manifestations: Physical Dysmorphisms