http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
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.Ion.
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