Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation

Neurology. 2004 Mar 23;62(6):1012-5. doi: 10.1212/01.wnl.0000119392.29624.88.

Abstract

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 - p(1)) ethnically matched control chromosomes (P = acceptable error probability; p(1) = mutation prevalence in patient chromosomes).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Amino Acid Substitution
  • Cold Temperature
  • DNA Mutational Analysis
  • Female
  • Genetic Testing
  • Glucose
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Myotonic Disorders / diagnosis
  • Myotonic Disorders / genetics
  • Paralyses, Familial Periodic / diagnosis
  • Paralyses, Familial Periodic / genetics*
  • Paralysis, Hyperkalemic Periodic / diagnosis
  • Paralysis, Hyperkalemic Periodic / genetics*
  • Pedigree
  • Potassium Channels / genetics*
  • Potassium Channels, Voltage-Gated*
  • Potassium Chloride
  • Reference Values
  • Thyrotoxicosis / genetics

Substances

  • KCNE3 protein, human
  • Potassium Channels
  • Potassium Channels, Voltage-Gated
  • Potassium Chloride
  • Glucose