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Lafora disease
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease progressive myoclonus epilepsy
Related Genes
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010819 | Atonic seizure |
| HP:0001399 | Hepatic failure |
| HP:0001251 | Ataxia |
| HP:0002367 | Visual hallucination |
| HP:0012444 | Brain atrophy |
| HP:0002100 | Recurrent aspiration pneumonia |
| HP:0001260 | Dysarthria |
| HP:0002521 | Hypsarrhythmia |
| HP:0000726 | Dementia |
| HP:0002315 | Headache |
