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J Med Genet. 2008 Oct;45(10):686-8. doi: 10.1136/jmg.2008.059766.

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

Author information

  • 1Laboratoire de Biochimie et Génétique Moléculaire, CHU Grenoble, BP 217, 38043 Grenoble cedex 9, France. jlunardi@chu-grenoble.fr

Abstract

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.

PMID:
18835861
[PubMed - indexed for MEDLINE]
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