Gaucher mutation N188S is associated with myoclonic epilepsy
- 5 August 2005
- journal article
- letter
- Published by Hindawi Limited in Human Mutation
- Vol. 26 (3) , 271-273
- https://doi.org/10.1002/humu.20217
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. Hum Mutat 26(3), 271–273, 2005.Keywords
This publication has 8 references indexed in Scilit:
- Early Visual Seizures and Progressive Myoclonus Epilepsy in Neuronopathic Gaucher Disease Due to a Rare Compound Heterozygosity (N188S/S107L)Epilepsia, 2004
- Functional analysis of 13GBAmutant alleles identified in Gaucher disease patients: Pathogenic changes and “modifier” polymorphismsHuman Mutation, 2004
- X‐ray structure of human acid‐β‐glucosidase, the defective enzyme in Gaucher diseaseEMBO Reports, 2003
- Myoclonic Epilepsy in Gaucher Disease: Genotype-Phenotype Insights from a Rare Patient SubgroupPediatric Research, 2003
- Reciprocal and Nonreciprocal Recombination at the Glucocerebrosidase Gene Region: Implications for Complexity in Gaucher DiseaseAmerican Journal of Human Genetics, 2003
- Longterm follow-up of electroencephalographic and clinical findings of a case with Gaucher’s disease type 3aSeizure, 2000
- Glucocerebrosidase gene mutations in patients with type 2 Gaucher diseaseHuman Mutation, 2000
- Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populationsHuman Mutation, 1996