Vol 12, No 2 (2017)

Juvenile myoclonic epilepsy (JME) is an inherited genetic syndrome within the group of idiopathic generalized epilepsies (IGE). The disease is characterized by an adolescence-onset with massive myoclonic seizures often combined with generalized convulsive seizures and absence seizures and by typical changes in the electroencephalogram appearing as short generalized polyspike-and-wave epileptiform discharges with a frequency of 3–6 Hz. Despite the high rate of remission (75–85 %) in patients receiving adequate therapy, this form of epilepsy brings more significant inconveniences for patients than many other forms of IGE. Such factors as violation of sleep hygiene, missing the doses of antiepileptic drugs (AED) or discontinuing the therapy cause recurrence of seizures in the vast majority of patients with JME, even in those with long-term remission. Due to the high recurrence rate in patients with JME, the treatment is usually lengthy; thus, the issues of its efficacy and tolerability, as well as the choice of starting therapy are particularly important in the case of JME. The impact of AED on the reproductive functions in women is a subject of major concern, since the active period of the disease and antiepileptic therapy covers the adult (and often adolescent) age.

Valproic acid was widely used for treatment of JME, but now this drug is prescribed less frequently (especially in girls and women) due to the possible negative impact on reproductive function and its teratogenic effect. So, choosing an alternative drug with high efficacy and tolerability is crucial for patients with JME. The authors present their own experience of JME treatment with topiramate. Our results suggest that topiramate is a highly effective well-tolerated drug that can be used for JME therapy without a significant impact on the reproductive functions in female patients. 

Background. Early detection of epileptiform activity on the electroencephalogram (EEG) and preventive antiepileptic therapy in patients with tuberous sclerosis (TS) help to avoid the development of severe forms of epilepsy as well as cognitive disorders associated with it.

Materials and methods. Seventeen patients with TS underwent preventive antiepileptic treatment in the Research and Clinical Institute for Pediatrics named after Y.E Vel’tishev. All patients were diagnosed with TS during their first months of life. The diagnosed was based on the detection of cardiac rhabdomyomas and hypopigmentation spots and then confirmed by a genetic test. Antiepileptic drugs (AED) (vigabatrin in 7 patients, valproic acid in 7 patients and levetiracetam in 2 patients) were administered after detection of epileptiform activity in the routine EEG (EEG was performed monthly).

Results. Preventive therapy with valproic acid and levetiracetam was found to be ineffective: 4 out of 7 patients on valproic acid and 1 out of 2 patients on levetiracetam developed epilepsy. All of them were later diagnosed with delayed psychological development and delayed speech development. Among 7 patients receiving vigabatrin, only 1 patient developed epilepsy, but did not have any developmental disorders later.

Conclusion. Despite vigabatrin is not registered in the Russian Federation, it should be used as an agent for preventive antiepileptic therapy in patients with TS. This approach ensures more favorable long-term results in terms of cognitive functions and psychological development, thus, providing a better quality of life.