Gaucher mutation N188S is associated with myoclonic epilepsy

Hum Mutat. 2005 Sep;26(3):271-3; author reply 274-5. doi: 10.1002/humu.20217.

Abstract

The recent article by Montfort et al. [2004] reported a functional analysis of 13 glucocerebrosidase alleles, including mutation N188S, which they considered to be a "very mild mutation" or "modifier variant." Our clinical experience with patients carrying this mutation and preliminary protein modeling data lead us to dispute this conclusion.

Publication types

  • Comment
  • Letter

MeSH terms

  • Adolescent
  • Alleles
  • Child
  • Child, Preschool
  • Epilepsies, Myoclonic / genetics*
  • Female
  • Gaucher Disease / enzymology*
  • Gaucher Disease / genetics*
  • Glucosylceramidase / genetics*
  • Humans
  • Male
  • Mutation*
  • Recombinant Proteins

Substances

  • Recombinant Proteins
  • Glucosylceramidase