Epilepsy, Progressive Myoclonic
GPTKB entity
Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:abbreviation |
gptkb:PME
|
| gptkbp:alsoKnownAs |
gptkb:Progressive_Myoclonic_Epilepsy
|
| gptkbp:cause |
genetic disorder
|
| gptkbp:diagnosedBy |
gptkb:EEG
genetic testing |
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Epilepsy, Progressive Myoclonic
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:MeSH_ID |
D004827
|
| gptkbp:OMIM |
254800
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prognosis |
progressive
|
| gptkbp:subspecies |
gptkb:Lafora_disease
gptkb:Unverricht-Lundborg_disease Myoclonic epilepsy with ragged red fibers (MERRF) Neuronal ceroid lipofuscinosis |
| gptkbp:symptom |
ataxia
myoclonus progressive neurological decline epileptic seizures |
| gptkbp:treatment |
supportive care
antiepileptic drugs |
| gptkbp:bfsParent |
gptkb:D004239
|
| gptkbp:bfsLayer |
8
|