Mutations in the EPM2A gene encoding a dual-specificity phosphatase (Laforin) cause an autosomal recessive fatal disorder called Lafora’s disease (LD) classically described as an adolescent-onset stimulus sensitive myoclonus, epilepsy and neurologic deterioration [1]. Skin biopsy reveals Lafora bodies (LB), which are pathognomonic and not seen with any other progressive myoclonus epilepsies. Genetic testing is crucial to confirm the diagnosis as it reveals mutation in the EPM2A or NHLRC1 gene. To date, at least 105 different mutations in the EPM2A gene and 84 mutations in NHLRC1 have been reported in the Lafora Progressive Myoclonus Epilepsy Mutation and Polymorphism Database (http://projects.tcag.ca/lafora) [2].

Read More...

Leave a comment.

Your email address will not be published. Required fields are marked*

Andoird App
Loading...