Progressive Myoclonic Epilepsy
GPTKB entity
Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
neurological disorder
epileptic syndrome |
| gptkbp:affects |
central nervous system
|
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:complication |
gptkb:dementia
cognitive decline ataxia loss of motor skills |
| gptkbp:firstDescribed |
early 20th century
|
| gptkbp:frequency |
rare
|
| gptkbp:hasDiagnosticMethod |
gptkb:EEG
MRI genetic testing |
| https://www.w3.org/2000/01/rdf-schema#label |
Progressive Myoclonic Epilepsy
|
| gptkbp:ICD-10_code |
G40.4
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:OMIM |
254800
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:otherName |
gptkb:PME
|
| gptkbp:prognosis |
progressive deterioration
|
| gptkbp:subspecies |
gptkb:Lafora_disease
gptkb:Unverricht-Lundborg_disease Myoclonic epilepsy with ragged red fibers (MERRF) Neuronal ceroid lipofuscinosis |
| gptkbp:symptom |
myoclonus
progressive neurological decline epileptic seizures |
| gptkbp:treatment |
antiepileptic drugs
|
| gptkbp:bfsParent |
gptkb:D004239
|
| gptkbp:bfsLayer |
8
|