Epilepsia and paroxysmal conditions

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Vol 8, No 2 (2016)
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6-13 216

The purpose of research — to develop a pharmacogenetic test to predict the speed and features of a metabolism of anticonvulsants, antipsychotics, antidepressants, depending on genetically determined activity of enzyme systems and proteins-transporters of drugs.

Materials and Methods. During 4 years in the study included 260 patients with epilepsy and schizophrenia, located on the hospital treatment in the Centre of Mental Health (Minsk). Patients characterized by the presence of side effects and drug-resistance.

Results. As a result, taking into account the genetic information in 79% of patients with epilepsy and in 73% of patients with schizophrenia, there was a significant clinical effect.

Conclusion. The results demonstrated the great significance of pharmacokinetic and pharmacodynamic characteristics of the particular patient in the development of pharmacoresistance, regardless of nosology. The genetics of drug metabolism can improve the treatment and reduce the time to achieve clinical benefit from the treatment.

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Objective. Mitochondrial injury plays a central role in neuronal death following ischemic stroke. In the present study, we investigated effects of ethylmethylhydroxypyridine succinate on a microstroke-induced mitochondria swelling, a hallmark of mitochondrial injury.

Materials and Methods. Ischemic microstroke was induced in Thy1-CFP-MitoS mice expressing cyano fluorescent protein (CFP) in brain mitochondria by impulse infrared laser. Ethylmethylhydroxypyridine succinate 25 mg/kg or saline (control) were administered i.p. at 30 min after the stroke onset. A period of observation was 48 h. Brain images were obtained by two photon laser fluorescent microscopy and analyzed using a software developed in Neurotar Ltd (Finland). Nonparametric Mann-Whitney-Wilcoxon test was used for te statistical analysis of results.

Results. Microstroke resulted in mitochondria swelling, i.e. injury, in the zone surrounding the thrombus. The most profound changes of mitochondrial morphology were observed at 2 h from the stroke onset. Ethylmethylhydroxypyridine succinate significantly reduces the stroke-induced swelling at 1 h (p<0.05) and 2 h (p<0.05), as compared to the control.

Conclusion. These results suggest that ethylmethylhydroxypyridine succinate significantly protects brain mitochondria against microstroke-induced injury.


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The idiopathic generalized epilepsies constitute roughly one-third of all epilepsies. Juvenile myoclonic epilepsy (Janz syndrome) is characterized by myoclonic jerks on awakening, generalized tonic-clonic seizures, and typical absences, with the latter occurring in more than one-third of the patients. However, typical absences are not the predominant seizure type, and are usually very mild and simple (with no automatisms or localized limb jerks). Juvenile myoclonic epilepsy usually appears in adolescents between 12 and 18 years old. Half of patients with this condition have relatives with epilepsy. The genetic basis of this syndrome is complex and the mechanism of transmission is unclear. It is possible that several different genes are responsible. The authors presented the review of results modern clinical and genetic studies of juvenile myoclonic epilepsy. Information obtained from this review strongly suggests a heritable condition that merits further investigation.
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Epilepsy is the most frequent neurological sign of tuberous sclerosis complex (TSC) and it’s registered in 83.5% of patients. In majority of cases epilepsy begins during the first year of life (63%) and in 38.8% it’s manifesting as infantile spasms. The presence of epilepsy is closely connected with development of mental retardation in TSC. Early treatment of epilepsy is a key to prevention of mental retardation, and preventive treatment with vigabatrin is now advised by some specialists. Possibly high efficasy of vigabatrin in treatment of seizures associated with TSC is partly due to its m-TOR inhibiting property. M-TOR way is widely discussed now as one of the perspective targets for epilepsy treatment, associated or not associated with TSC.


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ISSN 2077-8333 (Print)
ISSN 2311-4088 (Online)