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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 |
|---|---|---|---|
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 55650 | PIGV | phosphatidylinositol glycan anchor biosynthesis class V | |
| 55768 | NGLY1 | N-glycanase 1 | |
| 79947 | DHDDS | dehydrodolichyl diphosphate synthase subunit | |
| 84342 | COG8 | component of oligomeric golgi complex 8 | |
| 84720 | PIGO | phosphatidylinositol glycan anchor biosynthesis class O | |
| 84992 | PIGY | phosphatidylinositol glycan anchor biosynthesis class Y | |
| 91869 | RFT1 | RFT1 homolog | |
| 93210 | PGAP3 | post-GPI attachment to proteins phospholipase 3 | |
| 132158 | GLYCTK | glycerate kinase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NQ66 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | |
| Q9UNP4 | Lactosylceramide alpha-2,3-sialyltransferase |
