Abstract: A novel gene (EPM2A) that is deleted or mutated in people with Lafora's disease is described. The EPM2A gene encodes a protein having an active catalytic site of a protein tyrosine phosphatase. Many different sequence mutations as well as several microdeletions in EPM2A have been found that co-segregate with Lafora's disease.
Type:
Grant
Filed:
July 8, 2004
Date of Patent:
June 23, 2009
Assignees:
McGrill University, The Hospital for Sick Children, The Regents of the University of California
Inventors:
Stephen W. Scherer, Berge A. Minassian, Antonio Delgado-Escueta, Guy Rouleu