Other

University of California

Mcgill University

The Hospital for Sick Children

The United States Government As Represented by the Department of Veterans Affairs

Antonio V Delgado-Escueta

Toshimitsu Suzuki

Kazuhiro Yamakawa

Maria Elisa Alonso Vilatela

Marco Tulio Medina-Hernandez

Berge Minassian

Stephen Scherer

Guy Rouleu

Guy A Rouleau

Berge A Minassian

Stephen W Scherer

Compositions and methods for diagnosis or treatment of epilepsy disease with EFHC1, EFHC1 agonists, or EFHC1 analogs are provided. Compositions and methods for diagnosis or treatment of epilepsy disease with EFHC1a, EFHC1a agonists, or EFHC1a analogs are provided.

Compositions and methods for diagnosis and treatment of epilepsy

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.

Lafora's disease gene

Compositions and methods for diagnosis or treatment of epilepsy disease with EFHC1, EFHC1 agonists, or EFHC1 analogs are provided. Compositions and methods for diagnosis or treatment of epilepsy disease with EFHC1, EFHC1agonists, or EFHC1analogs are provided.

Lafora's disease in humans is characterized by the mutation or deletion of an EPM2A gene, which encodes a protein, Laforin, having a tyrosine phosphatase domain. Many different sequence mutations, including microdeletions, in EPM2A co-segregate with, Lafora's disease. Accordingly, detection of mutations in EPM2 are useful in diagnosing Lafora's disease.

Growing community of inventors

Malibu, CA, United States of America

Antonio V Delgado-Escueta