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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:0007359 | Focal-onset seizure |
| HP:0001312 | Giant somatosensory evoked potentials |
| HP:0002186 | Apraxia |
| HP:0000572 | Visual loss |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000709 | Psychosis |
| HP:0003678 | Rapidly progressive |
| HP:0000992 | Cutaneous photosensitivity |
| HP:0002344 | Progressive neurologic deterioration |
