juvenile myoclonic epilepsy

GPTKB entity

Statements (52)
Predicate Object
gptkbp:instanceOf epilepsy syndrome
gptkbp:affects adolescents
young adults
gptkbp:alsoKnownAs gptkb:JME
Janz syndrome
gptkbp:associatedWith GABRA1
CACNB4
CLCN2
EFHC1
gptkbp:category idiopathic generalized epilepsy
gptkbp:diagnosedBy gptkb:EEG
gptkbp:EEGPattern generalized 4-6 Hz polyspike and wave discharges
gptkbp:firstDescribed 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 juvenile myoclonic epilepsy
gptkbp:ICD-10_code G40.3
gptkbp:inheritance complex, polygenic
gptkbp:lifestyleAdvice avoid alcohol
avoid sleep deprivation
gptkbp:longTermManagement antiepileptic drugs
gptkbp:MeSH_ID D020274
gptkbp:MRI_findings usually normal
gptkbp:notRecommendedTreatment gptkb:phenytoin
gptkb:carbamazepine
gptkbp:OMIM 254770
gptkbp:onset adolescence
gptkbp:prevalence 5-10% of all epilepsies
most common generalized epilepsy syndrome in adolescents
gptkbp:prognosis good seizure control with medication
lifelong tendency to seizures
gptkbp:remissionPossible rarely
gptkbp:riskFactor family history of epilepsy
gptkbp:seizureDuration seconds (myoclonic), minutes (tonic-clonic)
gptkbp:seizureTiming often after awakening
gptkbp:seizureType absence
myoclonic
tonic-clonic
gptkbp:symptom absence seizures
generalized tonic-clonic seizures
myoclonic jerks
gptkbp:treatment gptkb:valproic_acid
gptkb:lamotrigine
gptkb:levetiracetam
gptkb:topiramate
gptkbp:triggeredBy alcohol consumption
stress
sleep deprivation
gptkbp:typicalOnsetAge 12-18 years
gptkbp:bfsParent gptkb:GABRA1_gene
gptkbp:bfsLayer 7