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Article

Thyrotoxic periodic paralysis associated with a mutation in the sodium channel gene SCN4A.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Dec 2004

Lane Andrew H, Markarian Katherine, Braziunene Ieva

Abstract excerpt

Thyrotoxic hypokalemic periodic paralysis (THypoKPP) is an uncommon disorder with an unknown etiology. We describe a family in which the proband presented with paralysis and thyrotoxicosis. Because of similarities between familial hypokalemic periodic paralysis (FHypoKPP) and THypoKPP, we sequenced exon 12 of the SCN4A gene, which is known to be mutated in FHypoKPP. We identified an Arg672Ser mutation in the...

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Identifiers

PMID: 15645704
DOI: 10.1515/jpem.2004.17.12.1679

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