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JUVENILE MYOCLONIC EPILEPSY – THE JANZ SYNDROME –

Autor: Adelheid Wiemer-Kruel
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ABSTRACT: 

The juvenile myoclonic epilepsy is one of the most common epileptic syndromes, i.e. 5-10% of all epilepsies, but often misdiagnosed. The epilepsy begins at an age of about 12-18 years, with female predominance. It is a genetic determined epilepsy syndrome, with a polygenic mode of transmission.The predominant features are myoclonic jerks in 100% of the cases, generalised tonic-clonic or myoclonic tonic-clonic seizures in 90 – 95%, and absences in 30% of the patients, especially in the early morning after wake up, or after a nap in the afternoon. The seizures are often triggered by a lack of sleep mainly in combination with alcohol. The EEG is typical: generalised poly spike wave complexes and photosensibility in 30%. The MRT is normal. As for the therapy, a suitable life-style is most important. Antiepileptic drugs are valproate, the drug of first choice, lamotrigine, topiramate, levetiracetam and, if necessary, benzodiazepines. Carbamazepine or oxcarbazepine could aggravate the situation. Seizures can be controlled in 85%, but the risk for relapse after stopping the therapy being seizure free for 3-5 years is 90%, so, the therapy is in most cases is lifelong. The epidemiology of the syndrome, its diagnosis, course, and treatment are demonstrated and illustrated by examples.