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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 |
|---|---|---|---|
| 3074 | HEXB | hexosaminidase subunit beta | |
| 3155 | HMGCL | 3-hydroxy-3-methylglutaryl-CoA lyase | |
| 3631 | INPP4A | inositol polyphosphate-4-phosphatase type I A | |
| 4668 | NAGA | alpha-N-acetylgalactosaminidase | |
| 4758 | NEU1 | neuraminidase 1 | |
| 5211 | PFKL | phosphofructokinase, liver type | |
| 5277 | PIGA | phosphatidylinositol glycan anchor biosynthesis class A | |
| 5286 | PIK3C2A | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | |
| 5538 | PPT1 | palmitoyl-protein thioesterase 1 | |
| 5621 | PRNP | prion protein (Kanno blood group) |
Related Glycoprotein
