Term Name: Lafora disease
Synonyms: Lafora Progressive Myoclonic Epilepsy, Lafora's disease, MYOCLONIC EPILEPSY OF LAFORA
Definition: A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3.
Ontology: Human Disease [DOID:3534]   ( DOID:3534 )

Relationships
is a type of: autosomal recessive disease progressive myoclonus epilepsy