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Sodium channel gene mutations in hypokalemic periodic paralysis: An uncommon cause in the UK

From the Muscle and Neurogenetics Section (Drs. Davies and Hanna, and L. Eunson), Institute of Neurology, Queen Square; and Department of Neurology (Dr. Samuel), Hammersmith Hospital, London, United Kingdom.

Address correspondence and reprint requests to Dr. M.G. Hanna, Muscle and Neurogenetics Section, Institute of Neurology, Queen Square, London WC1N 3BG, UK; e-mail m.hanna{at}ion.ucl.ac.uk

Eleven of 36 families with hypokalemic periodic paralysis (hypoPP) harbored mutations in the skeletal muscle calcium channel gene (CACNA1S). The authors screened the skeletal muscle sodium channel gene (SCN4A) in the remainder. One family harbored a new heterozygous point mutation C2014A in exon 12 (R672S) of SCN4A. The authors identified the genetic defect underlying hypoPP in 33% of individuals tested. The authors conclude that SCN4A mutations are an uncommon cause of hypoPP in this UK population.

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