Epilepsy, Unverricht-Lundborg
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:alsoKnownAs |
gptkb:EPM1
gptkb:Unverricht-Lundborg_disease Progressive myoclonic epilepsy type 1 |
| gptkbp:associatedWith |
progressive neurological decline
|
| gptkbp:diseaseCategory |
neurological disorder
|
| gptkbp:firstDescribed |
gptkb:Heinrich_Unverricht
gptkb:Herman_Lundborg 1891 |
| gptkbp:frequency |
most common form of progressive myoclonic epilepsy
|
| gptkbp:geographicPrevalence |
gptkb:Finland
gptkb:Baltic_region |
| https://www.w3.org/2000/01/rdf-schema#label |
Epilepsy, Unverricht-Lundborg
|
| gptkbp:ICD-10_code |
G40.37
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:CSTB_gene
|
| gptkbp:OMIM |
254800
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
ataxia
dysarthria myoclonic seizures tonic-clonic seizures |
| gptkbp:treatment |
antiepileptic drugs
supportive therapy |
| gptkbp:bfsParent |
gptkb:D004239
|
| gptkbp:bfsLayer |
8
|