Abstract
The nondystrophic myotonias and primary periodic paralyses are an important group of genetic muscle diseases characterized by dysfunction of ion channels that regulate membrane excitability. Clinical manifestations vary and include myotonia, hyperkalemic and hypokalemic periodic paralysis, progressive myopathy, and cardiac arrhythmias. The severity of myotonia ranges from severe neonatal presentation causing respiratory compromise through to mild later-onset disease. It remains unclear why the frequency of attacks of paralysis varies greatly or why many patients develop a severe permanent fixed myopathy. Recent detailed characterizations of human genetic mutations in voltage-gated muscle sodium (gene: SCN4A), chloride (gene: CLCN1), calcium (gene: CACNA1S), and inward rectifier potassium (genes: KCNJ2, KCNJ18) channels have resulted in new insights into disease mechanisms, clinical phenotypic variation, and therapeutic options
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Acknowledgments
The authors are members of The Consortium for Clinical Investigation of Neurologic Channelopathies (CINCH) funded by the National Institute of Health (http://rarediseasesnetwork.epi.usf.edu/cinch). Work at the MRC Centre for Neuromuscular Diseases is also supported by the Brain Research Trust, a Medical Research Council Centre grant, the National Centre for Research Resources, and the National Specialist Commissioning Agency (NCG) DoH-UK. University College London Hospitals/University College London receives a proportion of funding from the Department of Health’s National Institute for Health Research Biomedical Research Centres’ funding scheme.
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Burge, J.A., Hanna, M.G. Novel Insights into the Pathomechanisms of Skeletal Muscle Channelopathies. Curr Neurol Neurosci Rep 12, 62–69 (2012). https://doi.org/10.1007/s11910-011-0238-3
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DOI: https://doi.org/10.1007/s11910-011-0238-3