Unverricht-Lundborg Epilepsy
GPTKB entity
Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:progressive_myoclonic_epilepsy |
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:alsoKnownAs |
gptkb:EPM1
Baltic myoclonus |
| gptkbp:category |
genetic disorder
neurological disorder epilepsy syndrome |
| gptkbp:firstDescribed |
gptkb:Herman_Bernhard_Lundborg
gptkb:Heinrich_Unverricht |
| gptkbp:hasGeneticCause |
mutation in CSTB gene
|
| gptkbp:hasOrphanetID |
ORPHA:310
|
| https://www.w3.org/2000/01/rdf-schema#label |
Unverricht-Lundborg Epilepsy
|
| gptkbp:ICD-10_code |
G40.37
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
254800
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prevalence |
rare
higher in Finland higher in Mediterranean countries |
| gptkbp:prognosis |
variable
often progressive |
| gptkbp:symptom |
ataxia
tonic-clonic seizures myoclonic jerks |
| gptkbp:treatment |
gptkb:valproic_acid
gptkb:clonazepam gptkb:levetiracetam antiepileptic drugs |
| gptkbp:bfsParent |
gptkb:D004239
|
| gptkbp:bfsLayer |
8
|