title: Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes.
abstract: Progressive Myoclonus Epilepsy (PME) of the Lafora type is an autosomal recessive disease, which presents in teenage years with myoclonia and generalized seizures leading to death within a decade of onset. It is characterized by pathognomonic inclusions, Lafora bodies (LB), in neurons and other cell types. Two genes causing Lafora disease (LD), EPM2A on chromosome 6q24 and NHLRC1 (EPM2B) on chromosome 6p22.3 have been identified, and our recent results indicate there is at least one other gene causing the disease. The EPM2A gene product, laforin, is a protein tyrosine phosphatase (PTP) with a carbohydrate-binding domain (CBD) in the N-terminus. NHLRC1 encodes a protein named malin, containing a zinc finger of the RING type in the N-terminal half and 6 NHL-repeat domains in the C-terminal direction. To date 43 different variations in EPM2A and 23 in NHLRC1 are known, including missense, nonsense, frameshift, and deletions. We have developed a human LD mutation database using a new generic biological database cross-referencing platform. The database, which currently contains 66 entries is accessible on the World Wide Web (http://projects.tcag.ca/lafora). Entries can be submitted via the curator of the database or via a web-based form.
authors.affiliation: Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Leonarda
authors.initials: L
authors.lastname: Ianzano
authors.forename: Junjun
authors.initials: J
authors.lastname: Zhang
authors.forename: Elayne M
authors.initials: EM
authors.lastname: Chan
authors.forename: Xiao-Chu
authors.initials: XC
authors.lastname: Zhao
authors.forename: Hannes
authors.initials: H
authors.lastname: Lohi
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.forename: Berge A
authors.initials: BA
authors.lastname: Minassian
mesh_terms: D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics*; D030541:Databases, Genetic; D006801:Humans; D009154:Mutation; D020191:Myoclonic Epilepsies, Progressive / Q000235:genetics*; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D012984:Software; D044767:Ubiquitin-Protein Ligases
chemical_list: D002352:Carrier Proteins; C478960:NHLRC1 protein, human; D044767:Ubiquitin-Protein Ligases; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human