Gaucher mutation N188S is associated with myoclonic epilepsy.
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.
Kowarz
Laurence
L
Goker-Alpan
Ozlem
O
Banerjee-Basu
Sharmila
S
LaMarca
Mary E
ME
Kinlaw
Leah
L
Schiffmann
Raphael
R
Baxevanis
Andreas D
AD
Sidransky
Ellen
E
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
D011994:Recombinant Proteins; D005962:Glucosylceramidase