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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/19469843, https://www.ncbi.nlm.nih.gov/pubmed/19267391
Xrefs

GARD:8214

MESH:D020192

MIM:254780

NCI:C84804

SNOMEDCT_US_2023_03_01:230425004

UMLS_CUI:C0751783

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

Synonyms

Lafora Progressive Myoclonic Epilepsy [EXACT]

Lafora's disease [EXACT]

MYOCLONIC EPILEPSY OF LAFORA [EXACT]

Parent Relationships

is_a progressive myoclonus epilepsy

is_a autosomal recessive disease

Subclass Logical Relationships

has symptom some hallucination

has material basis in some autosomal recessive inheritance

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