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Gaucher mutation N188S is associated with myoclonic epilepsy
Author(s) -
Kowarz Laurence,
GokerAlpan Ozlem,
BanerjeeBasu Sharmila,
LaMarca Mary E.,
Kinlaw Leah,
Schiffmann Raphael,
Baxevanis Andreas D.,
Sidransky Ellen
Publication year - 2005
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20217
Subject(s) - mutation , biology , hum , genetics , glucocerebrosidase , allele , epilepsy , gene , neuroscience , art , performance art , art history
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.