Gaucher Mutation N188S is Associated with Myoclonic Epilepsy

Overview

Journal Hum Mutat

Specialty Genetics

Date 2005 Aug 9

PMID 16086325

Citations 7

Authors

Laurence Kowarz

Ozlem Goker-Alpan

Sharmila Banerjee-Basu

Mary E Lamarca

Leah Kinlaw

Raphael Schiffmann

Andreas D Baxevanis

Ellen Sidransky

Affiliations

Soon will be listed here.

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.

Citing Articles

Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease.

Yamaguchi-Takegami N, Takahashi A, Mitsui J, Sugiyama Y, Chikada A, Porto K Intern Med. 2023; 63(6):861-865.

PMID: 37558486 PMC: 11008993. DOI: 10.2169/internalmedicine.1699-23.

and effects of Ambroxol chaperone therapy in two Italian patients affected by neuronopathic Gaucher disease and epilepsy.

Ciana G, Dardis A, Pavan E, Da Riol R, Biasizzo J, Ferino D Mol Genet Metab Rep. 2020; 25:100678.

PMID: 33294373 PMC: 7691604. DOI: 10.1016/j.ymgmr.2020.100678.

[Clinical features and genetic manifestations of two families with Gaucher's disease].

Li S, Zheng W, Sun M, Qi J, Jiang B Zhonghua Xue Ye Xue Za Zhi. 2019; 40(9):774-776.

PMID: 31648483 PMC: 7342435. DOI: 10.3760/cma.j.issn.0253-2727.2019.09.014.

, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches.

Riboldi G, Di Fonzo A Cells. 2019; 8(4).

PMID: 31010158 PMC: 6523296. DOI: 10.3390/cells8040364.

Functional analysis of 11 novel GBA alleles.

Malini E, Grossi S, Deganuto M, Rosano C, Parini R, Dominisini S Eur J Hum Genet. 2013; 22(4):511-6.

PMID: 24022302 PMC: 3953908. DOI: 10.1038/ejhg.2013.182.