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Summary Literature (0)
DOID:3534 - Lafora disease

Disease Ontology 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.

Synonyms: Lafora Progressive Myoclonic Epilepsy, Lafora's disease, MYOCLONIC EPILEPSY OF LAFORA

Xenbase Genes : epm2a, nhlrc1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009697 - Lafora disease


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), neurodegenerative disease (is_a), progressive myoclonus epilepsy (is_a)