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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 |
|---|---|---|---|
| 9091 | PIGQ | phosphatidylinositol glycan anchor biosynthesis class Q | |
| 9487 | PIGL | phosphatidylinositol glycan anchor biosynthesis class L | |
| 10715 | CERS1 | ceramide synthase 1 | |
| 23236 | PLCB1 | phospholipase C beta 1 | |
| 26275 | HIBCH | 3-hydroxyisobutyryl-CoA hydrolase | |
| 27315 | PGAP2 | post-GPI attachment to proteins 2 | |
| 51102 | MECR | mitochondrial trans-2-enoyl-CoA reductase | |
| 51227 | PIGP | phosphatidylinositol glycan anchor biosynthesis class P | |
| 51477 | ISYNA1 | inositol-3-phosphate synthase 1 | |
| 54732 | TMED9 | transmembrane p24 trafficking protein 9 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NQ66 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | |
| Q9UNP4 | Lactosylceramide alpha-2,3-sialyltransferase |
