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

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.
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https://www.hal.inserm.fr/inserm-00516347
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Submitted on : Thursday, September 9, 2010 - 12:21:03 PM
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S. Chabrier, Nicole Monnier, Joël Lunardi. Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene.. Journal of Medical Genetics, BMJ Publishing Group, 2008, 45 (10), pp.686-8. ⟨10.1136/jmg.2008.059766⟩. ⟨inserm-00516347⟩

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