TY - JOUR
T1 - A Japanese family of autosomal dominant hypokalemic periodic paralysis with a CACNL1A3 gene mutation
AU - Ikeda, Y.
AU - Abe, K.
AU - Watanabe, M.
AU - Shoji, M.
AU - Fontaine, B.
AU - Itoyama, Y.
AU - Hirai, S.
PY - 1996
Y1 - 1996
N2 - 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 α1 subunit (CACNL1A3) is located. Subsequently, two predominant missense point mutations were found in the CACNL1A3 gene. Both mutations substitute arginine to histidine (Arg528His 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.
AB - 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 α1 subunit (CACNL1A3) is located. Subsequently, two predominant missense point mutations were found in the CACNL1A3 gene. Both mutations substitute arginine to histidine (Arg528His 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.
KW - CACNL1A3
KW - Hypokalemic periodic paralysis
KW - Incomplete penetrance
KW - Missense mutation
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U2 - 10.1111/j.1468-1331.1996.tb00246.x
DO - 10.1111/j.1468-1331.1996.tb00246.x
M3 - Article
AN - SCOPUS:0029808873
SN - 1351-5101
VL - 3
SP - 441
EP - 445
JO - European Journal of Neurology
JF - European Journal of Neurology
IS - 5
ER -