Neurologic Channelopathies
- 1st Edition, Volume 203 - August 20, 2024
- Editor: Michael G. Hanna
- Language: English
- Hardback ISBN:9 7 8 - 0 - 3 2 3 - 9 0 8 2 0 - 7
- eBook ISBN:9 7 8 - 0 - 3 2 3 - 9 0 8 2 1 - 4
Neurological Channelopathies, Volume 203 begins with an introductory overview highlighting common mechanistic themes that cut across different CNS and PNS presentations, but that a… Read more
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Request a sales quoteNeurological Channelopathies, Volume 203 begins with an introductory overview highlighting common mechanistic themes that cut across different CNS and PNS presentations, but that also have potential for common treatment approaches, considering classification, genetics, and fundamental physiology of ion channels. Subsequent chapters present a detailed consideration of all genetic and immunological channelopathies. Each chapter considers Pathophysiological underpinnings - genetic or immunological; Clinical presentations; Diagnostic approach; and Treatment and management.
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 collectively as the Neurological Channelopathies. Although it was originally considered that significant ion channel dysfunction would not be compatible with life, we now know this is often not the case, although severe disease can often be the result. Given these major advances, it is now the right time to combine this knowledge into a single HCN volume dedicated to the topics at hand.
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 collectively as the Neurological Channelopathies. Although it was originally considered that significant ion channel dysfunction would not be compatible with life, we now know this is often not the case, although severe disease can often be the result. Given these major advances, it is now the right time to combine this knowledge into a single HCN volume dedicated to the topics at hand.
- Identifies importance of ion channels to CNS & PNS function
- Considers the classification, genetics, and physiology of ion channels
- Presents all major immunological and genetic channelopathies
- Provides clinical presentation, diagnosis, and treatment of channelopathies
Clinical neurologists
- Cover image
- Title page
- Table of Contents
- Copyright
- Handbook of Clinical Neurology 3rd Series
- Foreword
- Preface
- Contributors
- Chapter 1 Structure–function and pharmacologic aspects of ion channels relevant to neurologic channelopathies
- Abstract
- Introduction
- Classification of Ion Channels
- Genetics
- Structure–Function
- References
- Chapter 2 Inherited myotonias
- Abstract
- Introduction
- Clinical Features
- Pathophysiology
- Diagnostic Approach
- Treatment and Management Approach
- Conclusion
- References
- Chapter 3 Periodic paralysis
- Abstract
- Introduction
- Hypokalemic Periodic Paralysis
- HyperPP/PMC
- Andersen Tawil Syndrome
- Thyrotoxic Periodic Paralysis
- Rare Variants of Atypical Periodic Paralysis
- Conclusions
- Acknowledgments
- References
- Chapter 4 Andersen-Tawil syndrome
- Abstract
- Introduction
- Epidemiology
- Relation to Other Periodic Paralyzes
- Clinical Manifestations: Weakness
- Clinical Manifestations: Cardiac Arrhythmias
- Clinical Manifestations: Physical Dysmorphisms
- Clinical Manifestations: Neuropsychiatric Abnormalities
- Diagnostic Approach
- Pathophysiology
- Management
- References
- Chapter 5 Congenital myasthenic syndromes
- Abstract
- Introduction
- Postsynaptic CMS
- Kinetic Abnormalities of the AChR
- Mutations Affecting AChR Clustering and Synaptic Structure
- CMS Due to Mutations in the AGRN-LRP4-MUSK-DOK7 AChR Clustering Pathway
- Presynaptic CMS
- Synaptic CMS
- Rare Synaptic Forms
- Mutations in Ubiquitously Expressed Proteins That Affect Neuromuscular Synaptic Transmission
- Treatment
- Concluding Remark
- References
- Chapter 6 Human pain channelopathies
- Abstract
- General Introduction
- What Are Nociceptors?
- General Diagnostic Approach
- Painless Channelopathies
- Painful Channelopathies
- Conclusion and Future Directions
- References
- Chapter 7 Pediatric neuromuscular channelopathies
- Abstract
- Introduction
- Nondystrophic Myotonias
- Periodic Paralysis
- Conclusion
- References
- Chapter 8 The episodic ataxias
- Abstract
- Introduction
- Clinical Phenotypes
- Neurophysiologic Underpinning
- Diagnostic Approach
- Treatment
- Summary
- References
- Chapter 9 Familial hemiplegic migraine
- Abstract
- Introduction
- Definition and Diagnostic Criteria
- Epidemiology
- Etiopathogenesis
- Clinical Phenotype
- CACNA1A
- ATP1A2—FHM 2
- SCN1A
- PRRT2
- Future Genes
- References
- Chapter 10 Paroxysmal movement disorders
- Abstract
- Introduction
- Phenotypic and Genotypic Features of Paroxysmal Dyskinesia
- State-of-the-Art Pathophysiologic Framework
- Diagnostic Approach
- Treatment and Management Approach
- Conclusions
- References
- Chapter 11 Epilepsies
- Abstract
- Introduction
- Channelopathies by Clinical Phenotype
- Developmental and Epileptic Encephalopathies
- DEEs and Channelopathies in the Neonatal Period
- Other SCN1A-Related Epilepsies
- Other Channelopathies Presenting With Epilepsy in the Infantile Period
- Developmental and/or Epileptic Encephalopathy With Spike–Wave Activation in Sleep (D/EE-SWAS)
- Channelopathies and Progressive Myoclonic Epilepsy
- Channelopathies That Present With Epilepsy and Other Neurologic Features
- Conclusion
- References
- Chapter 12 Myasthenia gravis
- Abstract
- Myasthenia Gravis
- Clinical Features
- Categories of MG in Childhood
- Neurologic Examination
- Clinical and Laboratory Tests
- Antibody Testing
- Electrophysiologic Testing
- Single-fiber Electromyography
- Treatment
- References
- Chapter 13 Neuromyotonia
- Abstract
- Clinical presentation and phenotypes
- Pathogenic mechanisms
- Approach to diagnosis
- Treatment and management approach
- References
- Chapter 14 Stiff person syndrome
- Abstract
- Introduction
- History
- Lesion Localization
- Molecular Pathophysiology
- Clinical Spectrum
- Differential Diagnosis
- Investigations
- Treatment
- Outcomes
- Future Directions
- References
- Further reading
- Chapter 15 Autoantibody-mediated central nervous system channelopathies
- Abstract
- Introduction
- NMOSD With Antibodies to Aquaporin-4: The Autoimmune Water Channelopathy
- The Autoimmune Encephalitis Syndromes
- Treatment of autoimmune Channelopathies (Encephalitides)
- Long-Term Outcomes in Autoimmune Encephalitides
- Future Directions and Closing Remarks
- References
- Index
- No. of pages: 292
- Language: English
- Edition: 1
- Volume: 203
- Published: August 20, 2024
- Imprint: Elsevier
- Hardback ISBN: 9780323908207
- eBook ISBN: 9780323908214
MH
Michael G. Hanna
Michael G Hanna is Director of the UCL Institute of Neurology, University College London and professor in clinical neurology and consultant neurologist at the National Hospital for Neurology and Neurosurgery, Queen Square, London, and also Director of the Medical Research Council (MRC) Centre for Neuromuscular Disease. He has published over 100 peer-reviewed papers in neurology, authored 15 book chapters and one book in clinical neurology. He serves as editor of the journal of Neurology, Neurosurgery, and Psychiatry.and is co-author of the textbook Tutorials in Differential Diagnosis, 4e.
Affiliations and expertise
Director, UCL Institute of Neurology, University of College London, London, UK; Professor in Clinical Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Consultant Neurologist, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Director, Medical Research Council (MRC) Centre for Neuromuscular Disease, London, UKRead Neurologic Channelopathies on ScienceDirect