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Voltage-gated ion channels and hereditary disease.

Unique among reviews of this topic is that all known human hereditary diseases of voltage-gated ion channels are described covering various fields of medicine such as neurology, nephrology, and cardiology, with interesting parallels in mechanisms of disease emphasized.
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Genetics and pathogenesis of malignant hyperthermia

As a result of extensive research on the mechanisms of excitation‐contraction coupling and recent functional characterization of several disease‐causing mutations in heterologous expression systems, much is known about the molecular etiology of MH.
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Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

The results prove that SCN4A, the gene encoding the sodium channel alpha subunit of skeletal muscle is responsible for HypoPP-2, a disease caused by enhanced channel inactivation and current reduction showing no myotonia.
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Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

A complete penetrance in men and women, an early age at onset, postcritic myalgias and an increased number and severity of attacks induced by acetazolamide are observed in a large hypoPP family carrying an SCN4A mutation.
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Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants

The authors identified three putative A1A2 mutations (D718N, R763H, P979L) and three that await validation (P796R, E902K, X1021R) that may cause familial hemiplegic migraine type 2 (FHM2).
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Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2

The results suggest that some of the characteristic cognitive deficits of these patients are linked to specific structural cerebral changes, decreases in gray matter and metabolism are independent processes, and the widespread brain abnormalities are more pronounced in DM1.
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K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion channel leaks

It is postulate that the principle of paradoxical depolarization and loss of function upon [K+]o reduction may apply to other tissues, such as heart or brain, when they become leaky (e.g., because of ischemia).
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Sodium channelopathies of skeletal muscle result from gain or loss of function

Five hereditary sodium channelopathies of skeletal muscle have been identified and both loss and gain of function mutations have been described, the latter being the more frequent mechanism and involving not just the ion-conducting pore, but aberrant pores as well.
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Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared…

High-resolution haplotype analysis of disease chromosomes identified extensive linkage disequilibrium and a single shared haplotype of at least 132 kb among patients from the different populations and indicates that the DM2 haplotype is identical to the most common haplotype in normal individuals.
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Complications of anaesthesia in neuromuscular disorders

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