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

S. Chabrier; Nicole Monnier; Joël Lunardi

doi:10.1136/jmg.2008.059766

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

S. Chabrier ¹ Nicole Monnier ² Joël Lunardi ^{2, *}

* Auteur correspondant

1 Departement de médecine physique et de réadaptation pediatrique

2 Laboratoire de biochimie et génétique moléculaire

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.

Type de document :

Article dans une revue

Journal of Medical Genetics, BMJ Publishing Group, 2008, 45 (10), pp.686-8. 〈10.1136/jmg.2008.059766〉

Domaine :

Sciences du Vivant [q-bio] / Biochimie, Biologie Moléculaire

Sciences du Vivant [q-bio] / Génétique

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http://www.hal.inserm.fr/inserm-00516347
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Soumis le : jeudi 9 septembre 2010 - 12:21:03
Dernière modification le : jeudi 11 janvier 2018 - 02:37:14
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Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.

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

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