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[Hyperkalemic periodic paralysis: a Spanish family with the p.Thr704Met mutation in the SCN4A gene].

Neurologia (Barcelona, Spain) - 1 Sept 2008

Narberhaus B, Cormand B, Cuenca-León E, Ribasés M, Monells J

Abstract excerpt

INTRODUCTION: Hyperkalemic periodic paralysis (HYPP) is an autosomal dominant disease characterized by recurrent episodes of muscular weakness with increased blood potassium levels. Here we present the clinical, analytical, neurophysiological and genetic findings of family with eight affected individuals, five of which were available for study. PATIENTS AND METHODS: The five patients were subjected to complete...

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PMID: 18726720

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