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J Med Genet 2008;45:686-688 doi:10.1136/jmg.2008.059766
  • Mutation report

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

  1. S Chabrier1,
  2. N Monnier2,
  3. J Lunardi2
  1. 1
    Department of Médecine Physique et Réadaptation Pédiatrique, Centre Hospitalier Universitaire de Saint-Etienne, Saint-Etienne, France
  2. 2
    Laboratoire de Biochimie et Génétique Moléculaire and Centre de Référence Rhône-Alpes des Maladies Neuromusculaires Rares, Centre Hospitalier Universitaire de Grenoble, Grenoble, France
  1. Professor J Lunardi, Laboratoire de Biochimie et Génétique Moléculaire, CHU Grenoble, BP 217, 38043 Grenoble cedex 9, France; jlunardi{at}chu-grenoble.fr
  • Received 18 April 2008
  • Revised 5 June 2008
  • Accepted 6 June 2008

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.

Footnotes

  • Funding: This work was supported in part by the Association Française contre les Myopathies, the Agence Nationale de la Recherche, the Programme Hospitalier de Recherche Clinique du Centre Hospitalier Universitaire de Grenoble and by the Fondation Daniel Ducoin (to JL)

  • Competing interests: None declared.

  • Patient consent: Parental consent obtained.

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