Visualize Submit Comment
Metadata
ID DOID:3534
Name Lafora disease
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.
https://www.ncbi.nlm.nih.gov/pubmed/19267391, https://www.ncbi.nlm.nih.gov/pubmed/19469843
Xrefs

CSP2005:0485-7984

GARD:8214

MESH:D020192

NCI:C84804

OMIM:254780

UMLS_CUI:C0751783

Subsets

DO_FlyBase_slim

NCIthesaurus

Synonyms

Lafora Progressive Myoclonic Epilepsy [EXACT]

Lafora's disease [EXACT]

MYOCLONIC EPILEPSY OF LAFORA [EXACT]

Parent Relationships

is_a progressive myoclonus epilepsy

Add an item to the term tracker