Epilepsy, progressive myoclonus type 1
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
neurodegenerative disease
genetic disorder |
| gptkbp:alsoKnownAs |
gptkb:EPM1
gptkb:Unverricht-Lundborg_disease |
| gptkbp:category |
progressive myoclonus epilepsy
|
| gptkbp:firstDescribed |
gptkb:Herman_Bernhard_Lundborg
gptkb:Heinrich_Unverricht |
| gptkbp:frequency |
more common in Finland
|
| https://www.w3.org/2000/01/rdf-schema#label |
Epilepsy, progressive myoclonus type 1
|
| 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
myoclonus epileptic seizures |
| gptkbp:treatment |
antiepileptic drugs
|
| gptkbp:bfsParent |
gptkb:EPM1
|
| gptkbp:bfsLayer |
8
|