IndraLab
Statements
Sodium(1+) activates SCN4A. 2 / 2
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2
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"Patients homozygous for sodium channel mutations causing paramyotonia congenita (SCN4A, Ile1393Thr), hypokalemic periodic paralysis (SCN4A, Arg1132Gln) and myotonia congenita (CLCN1, Gly190Ser, Ile556Asn, Ala313Thr, Ile556Asn) display much more severe clinical features than patients heterozygous for these mutations."
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"Mexiletine, a sodium channel blocker, targets the primary defect in sodium channelopathies (excessive activation of the sodium channel SCN4A channel protein) 10 but targets more downstream cell pathophysiology in the chloride channel, adding cellular heterogeneity to the genetic and allelic heterogeneity."