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

D Sternberg, N Tabti, E Fournier, B Hainque… - Neurology, 2003 - AAN Enterprises
D Sternberg, N Tabti, E Fournier, B Hainque, B Fontaine
Neurology, 2003AAN Enterprises
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.
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.
American Academy of Neurology