Identification of new and common mutations in the EPM2A gene in Lafora disease.
Lafora disease is a teenage onset progressive myoclonus epilepsy caused by mutations in the EPM2A gene. In this report, we describe new mutations within EPM2A, review the known mutations to date to identify the most common, and describe three simple tests for prenatal and carrier screening.
Minassian
B A
BA
Department of Paediatrics, The Hospital for Sick Children and The University of Toronto, Ontario, Canada.
Ianzano
L
L
Delgado-Escueta
A V
AV
Scherer
S W
SW
D004252:DNA Mutational Analysis; D017931:DNA Primers; D005192:Family Health; D017353:Gene Deletion; D005820:Genetic Testing; D006801:Humans; D020192:Lafora Disease / Q000175:diagnosis / Q000235:genetics*; D020125:Mutation, Missense; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011296:Prenatal Diagnosis; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor
D017931:DNA Primers; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human