Juvenile Myoclonic Epilepsy

GPTKB entity

Statements (52)
Predicate Object
gptkbp:instanceOf Epilepsy
gptkbp:abbreviation gptkb:JME
gptkbp:affects central nervous system
gptkbp:alsoKnownAs Janz syndrome
gptkbp:associatedWith photosensitivity
gptkbp:contraindicatedDrugs gptkb:phenytoin
gptkb:carbamazepine
gptkbp:diagnosedBy gptkb:EEG
clinical history
gptkbp:EEGFinding generalized 4-6 Hz polyspike and wave discharges
gptkbp:field neurology
gptkbp:firstDescribed Hermann Janz
gptkbp:frequency daily myoclonic jerks
gptkbp:gender slightly more common in females
gptkbp:geneticStudies yes
https://www.w3.org/2000/01/rdf-schema#label Juvenile Myoclonic Epilepsy
gptkbp:ICD-10_code G40.3
gptkbp:inheritance complex genetic
gptkbp:longTermManagement lifelong medication often required
gptkbp:MeSH_ID D020274
gptkbp:MRI usually normal
gptkbp:notable_for GABRA1
CACNB4
CLCN2
EFHC1
gptkbp:OMIM 254770
gptkbp:onset childhood
adolescence
gptkbp:parentDisorder Idiopathic generalized epilepsy
gptkbp:prevalence 5-10% of all epilepsies
most common generalized epilepsy syndrome
gptkbp:prognosis good seizure control with medication
lifelong tendency to seizures
gptkbp:remissionRate low without medication
gptkbp:riskFactor family history of epilepsy
gptkbp:seizureTiming often after awakening
gptkbp:seizureType absence
generalized
myoclonic
tonic-clonic
gptkbp:symptom absence seizures
generalized tonic-clonic seizures
myoclonic jerks
gptkbp:treatment gptkb:valproic_acid
gptkb:lamotrigine
gptkb:levetiracetam
gptkbp:triggeredBy gptkb:beer
stress
sleep deprivation
gptkbp:typicalOnsetAge 12-18 years
gptkbp:bfsParent gptkb:D004239
gptkbp:bfsLayer 8