Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis

被引：56

作者：

Bendahhou, S

Cummins, TR

Griggs, RC

Fu, YH

Ptácek, LJ

机构：

[1] Univ Utah, Howard Hughes Med Inst, Eccles Inst Human Genet, Salt Lake City, UT 84112 USA

[2] Yale Univ, Sch Med, Dept Neurol & Human Genet, New Haven, CT USA

[3] Yale Univ, Sch Med, Dept Neurol, New Haven, CT USA

[4] Yale Univ, Sch Med, Dept Pharmacol, New Haven, CT USA

[5] VA Med Ctr, Ctr Res Neurosci, W Haven, CT USA

[6] Univ Rochester, Dept Neurol, Rochester, NY USA

[7] Univ Utah, Dept Anat & Neurobiol, Salt Lake City, UT USA

来源：

ANNALS OF NEUROLOGY | 2001年 / 50卷 / 03期

关键词：

D O I：

10.1002/ana.1144

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A novel mutation in a family with hypokalemic periodic paralysis is described. The mutation R672S is located in the voltage sensor segment S4 of domain II in the SCN4A gene encoding the human skeletal muscle voltage-gated sodium channel. Functional expression of the R672S channels in human embryonic kidney 293 cells revealed a small but significant hyperpolarizing shift in the steady-state fast inactivation, and a dramatic enhancement in channel slow inactivation. These two defects are mainly due to a slow recovery of the mutant channels from fast and/or slow inactivation. Our data may help explain the mechanism underlying hypokalemic periodic paralysis and the patient's worsening from acetazolamide.

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收藏

页码：417 / 420

页数：4

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