| Term Name: | Lafora disease 1 |
|---|---|
| Synonyms: | progressive myoclonic epilepsy 2A |
| Definition: | A Lafora disease that has_material_basis_in homozygous or compound heterozygous mutation in the EPM2A gene on chromosome 6q24. |
| Ontology: | Human Disease [DOID:0070660] ( DOID:0070660 ) |