SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.
نویسندگان
چکیده
Neurology S. L. Venance, K. Jurkat-Rott, F. Lehmann-Horn and R. Tawil SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide This information is current as of November 24, 2007 http://www.neurology.org/cgi/content/full/63/10/1977 located on the World Wide Web at: The online version of this article, along with updated information and services, is All rights reserved. Print ISSN: 0028-3878. Online ISSN: 1526-632X. since 1951, it is now a weekly with 48 issues per year. Copyright © 2004 by AAN Enterprises, Inc. ® is the official journal of the American Academy of Neurology. Published continuously Neurology
منابع مشابه
Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations
Primary hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene. Although 2 different ion channels have been identified as the molecular genetic cause of HOKPP, the clinical manifestations between the 2 groups are similar. We repor...
متن کاملAcetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype.
OBJECTIVES Acetazolamide has been the most commonly used treatment for hypokalemic periodic paralysis since 1968. However, its mechanism of efficacy is not fully understood, and it is not known whether therapy response relates to genotype. We undertook a clinical and genetic study to evaluate the response rate of patients treated with acetazolamide and to investigate possible correlations betwe...
متن کاملMutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
Mutations in CACNA1S (calcium channel, voltage‑dependent, L type, alpha 1S subunit) and SCN4A (sodium channel, voltage‑gated, type IV, alpha subunit) are associated with hypokalemic periodic paralysis (HPP). The aim of the current study was to investigate CACNA1S and SCN4A mutations in patients with HPP. Mutations in CACNA1S and SCN4A were detected in three familial hypokalemic periodic paralys...
متن کاملCorrelating phenotype and genotype in the periodic paralyses.
BACKGROUND Periodic paralyses and paramyotonia congenita are rare disorders causing disabling weakness and myotonia. Mutations in sodium, calcium, and potassium channels have been recognized as causing disease. OBJECTIVE To analyze the clinical phenotype of patients with and without discernible genotype and to identify other mutations in ion channel genes associated with disease. METHODS Th...
متن کاملHypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.
Hypokalemic periodic paralysis (HypoPP) is an autosomal dominant disorder characterized by episodic attacks of muscle weakness associated with a decrease in blood potassium levels. Recently, mutations in the gene coding for the skeletal muscle voltage-gated sodium channel alpha subunit (SCN4A) have been reported. We detected the R672H mutation in one HypoPP Turkish family.
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ورودعنوان ژورنال:
- Neurology
دوره 63 10 شماره
صفحات -
تاریخ انتشار 2004