Other names: The Lafora Progressive Myoclonus Epilepsy Mutation and Polymorphism Database
A curated database of mutations and polymorphisms associated with Lafora Progressive Myoclonus Epilepsy. The Lafora progressive myoclonus epilepsy mutation and polymorphism database is a collection of hand curated mutation and polymorphism data for the EPM2A and EPM2B (NHLRC1) from publicly available literature: databases and unpublished data. The database is continuously updated with information from in-house experimental data as well as data from published research studies. Submissions are also welcome.
human genes and diseases gene-, system- or disease-specific progressive myoclonus epilepsy - pme disease genetics heterozygous homozygous human genes nucleotide polymorphism