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Comment
. 2005 Sep;26(3):271-3; author reply 274-5.
doi: 10.1002/humu.20217.

Gaucher mutation N188S is associated with myoclonic epilepsy

Laurence Kowarz, Ozlem Goker-Alpan, Sharmila Banerjee-Basu, Mary E LaMarca, Leah Kinlaw, Raphael Schiffmann, Andreas D Baxevanis, Ellen Sidransky
Comment

Gaucher mutation N188S is associated with myoclonic epilepsy

Laurence Kowarz et al. Hum Mutat. 2005 Sep.

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.

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