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SCN4A activates sodium(1+). 7 / 7
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"Mutations in SCN4A cause disruption of fast inactivation of the channel, which can be incomplete or slowed (78–80), leading to repetitive action potentials (myotonic runs) and consequent intracellular sodium accumulation that depolarizes muscle cells and can lead to inactivation of the Na channels (25, 31, 32, 47)."
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"The NDMs are comprised of myotonia congenita (MC) due to mutations in the skeletal muscle chloride channel gene CLCN1 encoding CLC-1 as well as paramyotonia congenita (PMC) and sodium channel myotonia (SCM) caused by mutations in the skeletal muscle sodium channel gene SCN4A encoding Na v 1.4 [XREF_BIBR]."
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"Subsequently, the first identification of mutations in a human channelopathy were established for hyperkalemic periodic paralysis caused by missense substitutions of SCN4A, encoding the alpha subunit of the muscle specific sodium channel Na V 1.4."
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"It has been proposed that mutations in SCN4A cause an increase in sodium persistent inward current, resulting in muscle depolarization and weakness in individuals with PMC."
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"Together, these results suggest cellular SkM1 delivery should efficiently restore the pool of available sodium channels; in a fashion superior to cellular SCN5A delivery and to natively-available Na-channels."
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"A de novo Mutation in the SCN4A Gene Causing Sodium Channel Myotonia."
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"Skeletal muscle sodium channelopathies (SMSCs) including hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita (PC), and sodium channel myotonia are caused by sodium channel gene (SCN4A) mutations, with altered sarcolemal excitability, and can present as episodes of skeletal muscle weakness, paralysis, and myotonia."
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