Five hereditary sodium channelopathies of skeletal muscle are caused by gain or loss of function mutations in the voltage-gated sodium channel NaV1.4, leading to either myotonia or weakness.
Hereditary sodium channelopathies of skeletal muscle are driven by mutations in the NaV1.4 channel that alter muscle fiber excitability through gain or loss of function mechanisms.
Five hereditary sodium channelopathies of skeletal muscle have been identified. Prominent symptoms are either myotonia or weakness caused by an increase or decrease of muscle fiber excitability. The voltage-gated sodium channel NaV1.4, initiator of the muscle action potential, is mutated in all five disorders. Pathogenetically, 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. The type of channel malfunction is decisive for therapy which consists either of exerting a direct effect on the sodium channel, i.e., by blocking the pore, or of restoring skeletal muscle membrane potential to reduce the fraction of inactivated channels.
Jurkat‐Rott et al. (2010) conducted a review in Sodium channelopathies of skeletal muscle. NaV1.4 mutations was evaluated. Five hereditary sodium channelopathies of skeletal muscle are caused by gain or loss of function mutations in the voltage-gated sodium channel NaV1.4, leading to either myotonia or weakness.
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