Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:progressive_myoclonus_epilepsy
gptkb:disease |
| gptkbp:alsoKnownAs |
gptkb:EPM1
gptkb:Unverricht-Lundborg_disease |
| gptkbp:category |
gptkb:neurological_disorder
|
| gptkbp:firstDescribed |
gptkb:Herman_Bernhard_Lundborg
1891 |
| gptkbp:frequency |
higher in Finland
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:CSTB_gene
|
| gptkbp:OMIM |
254800
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
rare
|
| gptkbp:progression |
slowly progressive
|
| gptkbp:symptom |
myoclonus
epileptic seizures |
| gptkbp:treatment |
antiepileptic drugs
|
| gptkbp:bfsParent |
gptkb:Gösta_Lundborg
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
Lundborg disease
|