Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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:0007359 | Focal-onset seizure |
| HP:0002384 | Focal impaired awareness seizure |
| HP:0002360 | Sleep abnormality |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0002540 | Inability to walk |
| HP:0002315 | Headache |
| HP:0011165 | Focal sensory seizure with visual features |
| HP:0002100 | Recurrent aspiration pneumonia |
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset |
| HP:0002367 | Visual hallucination |
