title: Gaucher mutation N188S is associated with myoclonic epilepsy.
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.
authors.forename: Laurence
authors.initials: L
authors.lastname: Kowarz
authors.forename: Ozlem
authors.initials: O
authors.lastname: Goker-Alpan
authors.forename: Sharmila
authors.initials: S
authors.lastname: Banerjee-Basu
authors.forename: Mary E
authors.initials: ME
authors.lastname: LaMarca
authors.forename: Leah
authors.initials: L
authors.lastname: Kinlaw
authors.forename: Raphael
authors.initials: R
authors.lastname: Schiffmann
authors.forename: Andreas D
authors.initials: AD
authors.lastname: Baxevanis
authors.forename: Ellen
authors.initials: E
authors.lastname: Sidransky
mesh_terms: D000293:Adolescent; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D005260:Female; D005776:Gaucher Disease / Q000201:enzymology* / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D011994:Recombinant Proteins
chemical_list: D011994:Recombinant Proteins; D005962:Glucosylceramidase