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Article

A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis.

Journal of the neurological sciences - 15 Oct 2011

Hirano Makito, Kokunai Yosuke, Nagai Asami, Nakamura Yusaku, Saigoh Kazumasa, Kusunoki Susumu, Takahashi Masanori P

Abstract excerpt

Hypokalemic periodic paralysis (HypoPP) type 1 is an autosomal dominant disease caused by mutations in the Ca(V)1.1 calcium channel encoded by the CACNA1S gene. Only seven mutations have been found since the discovery of the causative gene in 1994. We describe a patient with HypoPP who had a high serum potassium concentration after recovery from a recent paralysis, which complicated the correct diagnosis. This...

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PMID: 21855088
DOI: 10.1016/j.jns.2011.07.046

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