Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.
case_control · Level III
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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.
Medical subject headings
- Amino Acid Substitution
- Mutation, Missense
- Paralyses, Familial Periodic
- Point Mutation
- Potassium Channels
- Potassium Channels, Voltage-Gated