Lafora disease
Information
- Disease name
- Lafora disease
- Disease ID
- DOID:3534
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/19267391, url:https\://www.ncbi.nlm.nih.gov/pubmed/19469843]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05930223 | Available | Intravenous VAL-1221 Lafora Expanded Access Protocol | |||
| NCT00007124 | Completed | Ketogenic Diet in Lafora Disease | December 2000 | November 2002 | |
| NCT03876522 | Completed | Natural History and Functional Status Study of Patients With Lafora Disease | January 9, 2019 | April 1, 2022 |
- Disase is a (Disease Ontology)
- DOID:891
- Cross Reference ID (Disease Ontology)
- GARD:8214
- Cross Reference ID (Disease Ontology)
- MESH:D020192
- Cross Reference ID (Disease Ontology)
- MIM:254780
- Cross Reference ID (Disease Ontology)
- NCI:C84804
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:230425004
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0751783
- Exact Synonym (Disease Ontology)
- Lafora Progressive Myoclonic Epilepsy
- Exact Synonym (Disease Ontology)
- Lafora's disease
- Exact Synonym (Disease Ontology)
- MYOCLONIC EPILEPSY OF LAFORA
- OrphaNumber from OrphaNet (Orphanet)
- 501
- MedGen concept unique identifier (MedGen Concept name)
- C0751783
- MedGen unique identifier (MedGen Concept name)
- 155631
- MeSH unique ID (MeSH (Medical Subject Headings))
- D020192