PubMed 21855088

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Cav1.1

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

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

Journal, date & volume: J. Neurol. Sci., 2011 Oct 15 , 309, 9-11

PubMed link:

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 patient and other affected family members had a novel mutation, p.Arg900Gly, in the CACNA1S gene.