Literature DB >> 14504341

Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.

D Sternberg1, N Tabti, E Fournier, B Hainque, B Fontaine.   

Abstract

A missense variant (R83H) of the gene (KCNE3) encoding a potassium channel-associated peptide, MinK-related peptide 2 (MiRP2), has been reported in periodic paralysis patients. In the current study, no difference in the frequency of the MiRP2-R83H variant between periodic paralysis patients and healthy individuals was found. Furthermore, there was no segregation of this gene variant with the disease. These observations weaken the proposal that MiRP2-R83H causes periodic paralysis.

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Year:  2003        PMID： 14504341     DOI： 10.1212/01.wnl.0000082392.66713.e3

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  12 in total

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Review 7.  Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder.

Authors:  Bertrand Fontaine; Emmanuel Fournier; Damien Sternberg; Savine Vicart; Nacira Tabti
Journal:  Neurotherapeutics       Date:  2007-04       Impact factor: 7.620

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Review 9.  KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.

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Journal:  Heart Rhythm       Date:  2008-02-04       Impact factor: 6.343
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