Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation
K Jurkat-Rott, F Lehmann-Horn - Neurology, 2004 - AAN Enterprises
K Jurkat-Rott, F Lehmann-Horn
Neurology, 2004•AAN EnterprisesAn R83H point mutation in KCNE3-encoded MiRP2 has been reported to cause 2% of all
cases of familial periodic paralysis. The authors found MiRP2-R83H in 3 of 321 control
subjects and in 5 unaffected related individuals. Provocation of an unaffected carrier with
glucose or KCl did not induce weakness. The authors propose that causality criteria for
mutations require exclusion of mutations in n= ln (P)/ln (1− p1) ethnically matched control
chromosomes (P= acceptable error probability; p1= mutation prevalence in patient …
cases of familial periodic paralysis. The authors found MiRP2-R83H in 3 of 321 control
subjects and in 5 unaffected related individuals. Provocation of an unaffected carrier with
glucose or KCl did not induce weakness. The authors propose that causality criteria for
mutations require exclusion of mutations in n= ln (P)/ln (1− p1) ethnically matched control
chromosomes (P= acceptable error probability; p1= mutation prevalence in patient …
An R83H point mutation in KCNE3-encoded MiRP2 has been reported to cause 2% of all cases of familial periodic paralysis. The authors found MiRP2-R83H in 3 of 321 control subjects and in 5 unaffected related individuals. Provocation of an unaffected carrier with glucose or KCl did not induce weakness. The authors propose that causality criteria for mutations require exclusion of mutations in n = ln(P)/ln(1 − p1) ethnically matched control chromosomes (P = acceptable error probability; p1 = mutation prevalence in patient chromosomes).
American Academy of Neurology