Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene

被引：23

作者：

Chabrier, S. ^{[2
]}

Monnier, N. ^{[1
,3
]}

Lunardi, J. ^{[1
,3
]}

机构：

[1] CHU Grenoble, Lab Biochim & Genet Mol, F-38043 Grenoble 9, France

[2] Ctr Hosp Univ St Etienne, Dept Med Phys & Readaptat Pediat, St Etienne, France

[3] CHU Grenoble, Ctr Reference Rhone Alpes Malad Neuromusculaires, F-38043 Grenoble 9, France

来源：

JOURNAL OF MEDICAL GENETICS | 2008年 / 45卷 / 10期

关键词：

D O I：

10.1136/jmg.2008.059766

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a precocious and atypical form of hypokalaemic periodic paralysis, with clinical manifestations at birth and first episodes of paralysis occurring as early as 1 year of age, although onset of this disease usually occurs between 5-35 years. Extensive molecular analysis showed that the disease was caused by a novel de novo p. Arg897Ser mutation in the CACNA1S gene. The mutation mapped to a new region of the protein, the S4 voltage sensing segment of domain III, at odds with previously reported mutations that exclusively affected domains II and IV.

引用

页码：687 / 689

页数：3

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