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 model...

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Bibliographic Details
Published in:Human mutation 2005-09, Vol.26 (3), p.271-273
Main Authors: Kowarz, Laurence, Goker-Alpan, Ozlem, Banerjee-Basu, Sharmila, LaMarca, Mary E., Kinlaw, Leah, Schiffmann, Raphael, Baxevanis, Andreas D., Sidransky, Ellen
Format: Article
Language:English
Subjects:
Adolescent
Alleles
Child
Child, Preschool
Epilepsies, Myoclonic - genetics
Epilepsy
Female
Gaucher Disease - enzymology
Gaucher Disease - genetics
Glucosylceramidase - genetics
Humans
Male
Mutation
Recombinant Proteins
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Summary: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. Hum Mutat 26(3), 271–273, 2005. © 2005 Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/humu.20217