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

D Sternberg; N Tabti; E Fournier; B Hainque; B Fontaine

doi:10.1212/01.wnl.0000082392.66713.e3

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

Neurology. 2003 Sep 23;61(6):857-9. doi: 10.1212/01.wnl.0000082392.66713.e3.

Authors

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

Affiliation

¹ Federations of Biochemistry, Centre hospitalier universitaire Pitié-Salpêtrière, Assistance publique-hôpitaux de Paris et Université Paris VI, Paris, France.

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

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.

Publication types

Comparative Study
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Amino Acid Substitution*
Child
Chromosome Segregation
Female
Humans
Hypokalemic Periodic Paralysis / genetics
Male
Mutation, Missense*
NAV1.4 Voltage-Gated Sodium Channel
Paralyses, Familial Periodic / genetics*
Paralysis, Hyperkalemic Periodic / genetics
Pedigree
Point Mutation*
Polymorphism, Single-Stranded Conformational
Potassium Channels / chemistry
Potassium Channels / genetics*
Potassium Channels, Voltage-Gated*
Sodium Channels / genetics
Thyrotoxicosis / blood
Thyrotoxicosis / complications

Substances

KCNE3 protein, human
NAV1.4 Voltage-Gated Sodium Channel
Potassium Channels
Potassium Channels, Voltage-Gated
SCN4A protein, human
Sodium Channels