An adolescent school girl complaints of dropping objects from hands, it get precipitated during
morning and during exams. There is no history of loss of consciousness and her cousin sister has
been diagnosed with epilepsy. EEG was done and was suggestive of epileptic spikes. What is the
diagnosis?
a. Juvenile myoclonic epilepsy
b. Atypical absence
c. Choreco-athetoid epilepsy
d. Centrotemporal spikes
Answer-a. JME
-Juvenile myoclonic epilepsy (JME or Janz syndrome), previously “impulsive petit mal,” is one of the most common generalized epilepsy syndromes of childhood. It typically occurs in otherwise healthy adolescents and is characterized by the triad of myoclonic jerks, generalized tonic-clonic seizures (GTCS), and absence seizures (also called petit mal).
-Seizures characteristically occur upon awakening or in association with sleep deprivation, and patients generally respond quickly and completely to standard antiseizure drugs.
-Seizure frequency often lessens in adulthood but most patients require life-long antiseizure drug therapy.
-A number of chromosomal loci are suspected of playing a central role in JME; however, only a few are considered as putative JME-causing genes: EFHC1, CACNB4, CASR, GABRA1, GABRD, and ICK
- The hallmark seizures in JME are myoclonic jerks (or myoclonias), which are most frequent in the morning, within the first hour after awakening.
- The classic interictal EEG pattern in JME is 4 to 6 Hz bilateral polyspike and slow wave discharges with frontal predominance over a normal background activity.
- Valproate is recommended as the first-line treatment of choice for most patients