progressive myoclonic epilepsy type 1
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
neurological disorder |
| gptkbp:alsoKnownAs |
gptkb:EPM1
gptkb:Unverricht-Lundborg_disease |
| gptkbp:associatedWith |
neurodegeneration
|
| gptkbp:category |
gptkb:progressive_myoclonic_epilepsy
|
| gptkbp:firstDescribed |
gptkb:Heinrich_Unverricht
gptkb:Herman_Lundborg |
| gptkbp:frequency |
higher in Finland
|
| https://www.w3.org/2000/01/rdf-schema#label |
progressive myoclonic epilepsy type 1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:CSTB_gene
|
| gptkbp:OMIM |
254800
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prevalence |
rare
|
| gptkbp:progression |
slowly progressive
|
| gptkbp:symptom |
ataxia
myoclonus epileptic seizures |
| gptkbp:treatment |
antiepileptic drugs
|
| gptkbp:bfsParent |
gptkb:CSTB_gene
|
| gptkbp:bfsLayer |
8
|