Epilepsy, Juvenile Myoclonic
GPTKB entity
Statements (47)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
neurological disorder
epilepsy syndrome |
| gptkbp:alsoKnownAs |
gptkb:JME
Janz syndrome |
| gptkbp:associatedWith |
GABRA1
CACNB4 CLCN2 EFHC1 |
| gptkbp:characterizedBy |
absence seizures
generalized tonic-clonic seizures myoclonic jerks |
| gptkbp:compatibleWith |
intellectual disability
focal neurological deficits |
| gptkbp:contraindication |
gptkb:phenytoin
gptkb:carbamazepine |
| gptkbp:diagnosedBy |
gptkb:EEG
|
| gptkbp:EEGPattern |
generalized 4-6 Hz polyspike-and-wave discharges
|
| gptkbp:firstDescribed |
1985
Hermann Janz |
| gptkbp:frequency |
daily myoclonic jerks
|
| gptkbp:gender |
equal male and female prevalence
|
| gptkbp:geneticStudies |
yes
|
| https://www.w3.org/2000/01/rdf-schema#label |
Epilepsy, Juvenile Myoclonic
|
| gptkbp:ICD-10_code |
G40.3
|
| gptkbp:inheritance |
autosomal dominant with incomplete penetrance
|
| gptkbp:managedBy |
lifelong antiepileptic therapy
|
| gptkbp:MeSH_ID |
D004830
|
| gptkbp:OMIM |
254770
|
| gptkbp:onset |
adolescence
12-18 years |
| gptkbp:prevalence |
5-10% of all epilepsies
most common generalized epilepsy in adolescents |
| gptkbp:prognosis |
good seizure control with medication
lifelong tendency |
| gptkbp:riskFactor |
family history of epilepsy
|
| gptkbp:symptom |
absence seizures
generalized tonic-clonic seizures myoclonic jerks on awakening |
| gptkbp:treatment |
gptkb:valproic_acid
gptkb:lamotrigine gptkb:levetiracetam gptkb:topiramate |
| gptkbp:triggeredBy |
gptkb:beer
stress sleep deprivation |
| gptkbp:bfsParent |
gptkb:D004239
|
| gptkbp:bfsLayer |
8
|