Medline ® Abstracts for References 3-5

Juvenile myoclonic epilepsy (JME) is a special syndrome within the primary generalized epilepsies which is characterized clinically by irregular jerks of shoulders and arms (so-called impulsive petit mal) after awakening and electroencephalographically by bilateral-synchronous 4-6/s spike-wave complexes, often in the form of multispike-waves. The age of onset for this syndrome which occurs in 4-6% of all epilepsies is predominantly between 12 and 18 years. It mostly starts with isolated jerks which as a rule are soon followed by generalized tonic-clonic seizures (TCS). Jerks and TCS are provoked by sleep deprivation and predominantly occur after awakening (awakening epilepsy). Sleep deprivation and photostimulation are also very efficient in provoking specific EEG patterns. Exogenous factors have no etiological significance. Genetic studies suggest a polygenetic mode of inheritance and a lower threshold of manifestation in women. JME can be controlled very well by valproate and/or primidone. A complete cure, nevertheless, does not seem to be possible. Within the group of primary generalized epilepsies beginning in adolescence JME is closely related nosologically to the syndrome of juvenile absences and the syndrome of pure grand mal on awakening.

We aimed to characterize the clinical profile and EEG features of 43 patients with juvenile myoclonic epilepsy. In a retrospective design we studied the records of, and re-interviewed, 43 patients diagnosed with JME from the epilepsy clinic data base. Furthermore, available EEGs were re-evaluated. Of the patients 72% were female and 28% male. Average age of onset was 13 (5.5-22) years for absences, 16 (5.2-25) years for myoclonic seizures, and 16 (8-29) years for generalized tonic-clonic seizures. Forty-two percent reported asymmetric or unilateral myoclonic jerks. Commonly reported precipitating factors were sleep deprivation (84%), stress (70%), and alcohol consumption (51%). EEG findings included rapid spike-wave and polyspike-wave.

Forty-three patients with juvenile myoclonic epilepsy (JME) is presented. The female to male ratio was 2.9:1. The patients answered a standardized questionnaire pertaining to social situation, medical history, onset of epilepsy, types and frequency of seizures, treatment, experienced control over seizures and consequences of having epilepsy. Myoclonic jerks, which are the hallmark of the condition, are often forgotten by the patients or not considered as epileptic seizures. This could be one reason why JME still seems underdiagnosed. JME may comprise absence, myoclonic and generalized tonic-clonic seizures (GTCS), proposed to occur in age-related sequence. We found that absence seizures may start after onset of other seizures. Our results confirm the need for medication since, during the last year, only 7% were seizure free without medication. Of patients on antiepileptic drugs (AEDs), 79.5% had no GTCS and 41% were seizure free during the last year, which confirms a relatively good response to appropriate treatment. Although most patients used AED daily and many still had one or more types of epileptic seizure, the epilepsy in general had very little impact on their lives.