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Unverricht-Lundborg syndrome
Summary
- Synonym
-
- Unverricht - Lundborg disease
- Unverricht's disease
- Unverricht-Lundborg disease
- Definition
- A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline.
- Super Class
- progressive myoclonus epilepsy
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5660 | PSAP | prosaposin | |
| 6309 | SC5D | sterol-C5-desaturase | |
| 6389 | SDHA | succinate dehydrogenase complex flavoprotein subunit A | |
| 6392 | SDHD | succinate dehydrogenase complex subunit D | |
| 6487 | ST3GAL3 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | |
| 6900 | CNTN2 | contactin 2 | |
| 7957 | EPM2A | EPM2A glucan phosphatase, laforin | |
| 8398 | PLA2G6 | phospholipase A2 group VI | |
| 8867 | SYNJ1 | synaptojanin 1 | |
| 8869 | ST3GAL5 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NQ66 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | |
| Q9UNP4 | Lactosylceramide alpha-2,3-sialyltransferase |
