Gaucher mutation N188S is associated with myoclonic epilepsy | Zendy

Kowarz Laurence | Zendy; GokerAlpan Ozlem | Zendy; BanerjeeBasu Sharmila | Zendy; LaMarca Mary E. | Zendy; Kinlaw Leah | Zendy; Schiffmann Raphael | Zendy; Baxevanis Andreas D. | Zendy; Sidransky Ellen | Zendy

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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.

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