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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 |
|---|---|---|---|
| 275 | AMT | aminomethyltransferase | |
| 410 | ARSA | arylsulfatase A | |
| 427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
| 523 | ATP6V1A | ATPase H+ transporting V1 subunit A | |
| 1203 | CLN5 | CLN5 intracellular trafficking protein | |
| 1557 | CYP2C19 | cytochrome P450 family 2 subfamily C member 19 | |
| 1593 | CYP27A1 | cytochrome P450 family 27 subfamily A member 1 | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2653 | GCSH | glycine cleavage system protein H | |
| 2731 | GLDC | glycine decarboxylase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NQ66 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | |
| Q9UNP4 | Lactosylceramide alpha-2,3-sialyltransferase |
