Details

Autor(en) / Beteiligte

• Lane, Andrew H
• Markarian, Katherine
• Braziunene, Ieva

Titel

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

Ist Teil von

• Journal of Pediatric Endocrinology and Metabolism, 2004-12, Vol.17 (12), p.1679

Ort / Verlag

Germany

Erscheinungsjahr

2004

Quelle

MEDLINE

Beschreibungen/Notizen

• 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 proband and his affected father, as well as the proband's brother. As the brother has paralysis without thyrotoxicosis, our finding suggests that the genetic spectrum of FHypoKPP and THypoKPP overlap. We speculate that thyroid hormone may exert a threshold or permissive effect in hypokalemic periodic paralysis. Non-thyrotoxic family members of individuals with THypoKPP may have an unrecognized risk for paralysis.