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Lookup NU author(s): Professor Patrick Chinnery,
Dr Timothy Walls,
Professor Michael Hanna,
Emeritus Professor David Bates,
Dr Peter Fawcett
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Normokalemic periodic paralysis (normoKPP) is well established in the literature, but there are doubts as to whether it exists as a discrete entity. Retrospective clinical and molecular analysis has confirmed suspicions that most normoKPP families actually have a variant of hyperkalemic periodic paralysis (hyperKPP) due to a mutation of the muscle-specific sodium channel gene (SCN4A). However, the original normoKPP family described by Poskanzer and Kerr (Poskanzer DC, Kerr DNS. A third type of periodic paralysis, with normokalemia and favourable response to sodium chloride. Am J Med 1961;31:328-342) has remained unchallenged. We identified the Met1592Val mutation of SCN4A in an affected descendent of this original normoKPP family. This is the final piece in the puzzle: normoKPP is actually a variant of hyperKPP and is not a distinct disorder.
Author(s): Walls TJ; Chinnery PF; Bates D; Fawcett PRW; Hanna MG
Publication type: Article
Publication status: Published
Journal: Annals of Neurology
ISSN (print): 0364-5134
ISSN (electronic): 1531-8249
Publisher: John Wiley & Sons, Inc.
PubMed id: 12210802
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