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A Japanese family of autosomal dominant hypokalemic periodic paralysis with a CACNL1A3 gene mutation
Author(s) -
Ikeda Y.,
Abe K.,
Watanabe M.,
Shoji M.,
Fontaine B.,
Itoyama Y.,
Hirai S.
Publication year - 1996
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.1996.tb00246.x
Subject(s) - hypokalemic periodic paralysis , periodic paralysis , penetrance , missense mutation , genetics , medicine , point mutation , locus (genetics) , mutation , genetic linkage , paralysis , endocrinology , gene , biology , hypokalemia , surgery , phenotype
Recent genetic research revealed that hereditary periodic paralysis is an ion‐channel disorder. Genetic linkage analysis has mapped the autosomal dominant hypokalemic periodic paralysis (HypoPP) locus to chromosome 1q31–32, where the dihydropyridine sensitive calcium channel α 1 subunit (CACNL1A3) is located. Subsequently, two predominant missense point mutations were found in the CACNL1A3 gene. Both mutations substitute arginine to histidine (Arg528Ilis and Arg1239His). The Arg528His mutation is characterized by incomplete penetrance in females, whereas Arg1239His is not. We analyzed Japanese hypokalemic periodic paralysis patients (familial, sporadic and thyrotoxic), and detected the Arg528His mutation in one HypoPP family. This family shows more severe symptoms in successive generations and the severity of the symptoms is higher in males than in females within the same family.