Sodium channel gene mutations in hypokalemic periodic paralysis: An uncommon cause in the UK

被引:33
作者
Davies, NP
Eunson, LH
Samuel, M
Hanna, MG
机构
[1] Inst Neurol, Muscle & Neurogenet Sect, London WC1N 3BG, England
[2] Hammersmith Hosp, Dept Neurol, London, England
关键词
D O I
10.1212/WNL.57.7.1323
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Eleven of 36 families with hypokalemic periodic paralysis (hypoPP) harbored mutations in the skeletal muscle calcium channel gene (CACNA1S). The authors screened the skeletal muscle sodium channel gene (SCN4A) in the remainder. One family harbored a new heterozygous point mutation C2014A in exon 12 (R672S) of SCN4A. The authors identified the genetic defect underlying hypoPP in 33% of individuals tested. The authors conclude that SCN4A mutations are an uncommon cause of hypoPP in this UK population.
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页码:1323 / 1325
页数:3
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