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NEUROLOGY 2004;62:1012-1015
© 2004 American Academy of Neurology
Brief Communications

Periodic paralysis mutation MiRP2-R83H in controls

Interpretations and general recommendation

Karin Jurkat-Rott, MD PhD and Frank Lehmann-Horn, MD PhD

From the Department of Applied Physiology, Ulm University, Germany.

Address correspondence and reprint requests to Dr. Frank Lehmann-Horn, Department of Applied Physiology, Ulm University, Albert-Einstein-Allee 11, 89081 Ulm, Germany; e-mail: frank.lehmann-horn{at}medizin.uni-ulm.de

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).

Received September 27, 2003. Accepted in final form January 8, 2004.




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