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Article

Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.

Neurology - 4 Mar 2008

Webb Jadon, Cannon Stephen C

Abstract excerpt

BACKGROUND: Missense mutations of the skeletal muscle voltage-gated sodium channel (NaV1.4) are an established cause of several clinically distinct forms of periodic paralysis and myotonia. The mechanistic basis for the phenotypic variability of these allelic disorders of muscle excitability remains unknown. An atypical phenotype with cold-induced hypokalemic paralysis and myotonia at warm temperatures was...

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Identifiers

PMID: 17898326
DOI: 10.1212/01.wnl.0000265397.70057.d8
PMCID: PMC4094148

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Source receipt: pubmed, retrieved 7 Sept 2026.

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