Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:progressive_myoclonic_epilepsy |
| gptkbp:alsoKnownAs |
gptkb:EPM1
|
| gptkbp:category |
genetic disorder
neurological disorder |
| gptkbp:firstDescribed |
gptkb:Herman_Bernhard_Lundborg
gptkb:Heinrich_Unverricht |
| https://www.w3.org/2000/01/rdf-schema#label |
Unverricht-Lundborg disease
|
| gptkbp:ICD-10_code |
G40.37
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:CSTB_gene
|
| gptkbp:OMIM |
254800
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prevalence |
gptkb:Finland
gptkb:Baltic_region rare |
| gptkbp:prognosis |
variable
|
| gptkbp:progression |
slowly progressive
|
| gptkbp:symptom |
ataxia
myoclonic seizures tonic-clonic seizures |
| gptkbp:treatment |
gptkb:valproic_acid
gptkb:clonazepam gptkb:levetiracetam antiepileptic drugs |
| gptkbp:bfsParent |
gptkb:Lundborg_disease
|
| gptkbp:bfsLayer |
7
|