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Sodium Channelopathies of Skeletal Muscle

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Voltage-gated Sodium Channels: Structure, Function and Channelopathies

Part of the book series: Handbook of Experimental Pharmacology ((HEP,volume 246))

Abstract

The NaV1.4 sodium channel is highly expressed in skeletal muscle, where it carries almost all of the inward Na+ current that generates the action potential, but is not present at significant levels in other tissues. Consequently, mutations of SCN4A encoding NaV1.4 produce pure skeletal muscle phenotypes that now include six allelic disorders: sodium channel myotonia, paramyotonia congenita, hyperkalemic periodic paralysis, hypokalemic periodic paralysis, congenital myasthenia, and congenital myopathy with hypotonia. Mutation-specific alternations of NaV1.4 function explain the mechanistic basis for the diverse phenotypes and identify opportunities for strategic intervention to modify the burden of disease.

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  1. Department of Physiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, 90095, USA

    Stephen C. Cannon

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  1. CERVO Brain Research Center, Institut Universitaire en Santé Mentale, Quebec, Canada

    Mohamed Chahine

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Cannon, S.C. (2017). Sodium Channelopathies of Skeletal Muscle. In: Chahine, M. (eds) Voltage-gated Sodium Channels: Structure, Function and Channelopathies. Handbook of Experimental Pharmacology, vol 246. Springer, Cham. https://doi.org/10.1007/164_2017_52

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