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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset |
| HP:0001289 | Confusion |
| HP:0011165 | Focal sensory seizure with visual features |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0001257 | Spasticity |
| HP:0002384 | Focal impaired awareness seizure |
| HP:0000712 | Emotional lability |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0007270 | Atypical absence seizure |
| HP:0001288 | Gait disturbance |
