title: A novel mutation in the calcium channel gene in a family with hypokalemic periodic paralysis.
abstract: 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.
authors.affiliation: Department of Neurology, Sakai Hospital Kinki University Faculty of Medicine, Sakai, Osaka, Japan.
authors.forename: Makito
authors.initials: M
authors.lastname: Hirano
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Kokunai
authors.forename: Asami
authors.initials: A
authors.lastname: Nagai
authors.forename: Yusaku
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Kazumasa
authors.initials: K
authors.lastname: Saigoh
authors.forename: Susumu
authors.initials: S
authors.lastname: Kusunoki
authors.forename: Masanori P
authors.initials: MP
authors.lastname: Takahashi
mesh_terms: D000328:Adult; D000368:Aged; D015220:Calcium Channels / Q000235:genetics*; D020746:Calcium Channels, L-Type; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
chemical_list: C412223:CACNA1S protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type