The aim was to determine the factors impacting the treatment efficacy in patients with focal epilepsy.

Materials and methods. This was a prospective, comparative, observational study conducted in real clinical practice. We adhered to the following inclusion criteria: age over 18 years; history of two or more epileptic seizures with the focal onset; the presence of epileptic seizures at the time of the initial examination. The exclusion criteria were the history of nonepileptic seizures of any etiology and the inability to perform MRI and/or EEG. The primary and the follow-up examinations were separated by 3-12 months. Eighty three patients with focal epilepsy who met the inclusion criteria (37 men and 46 women aged 19 to 70 years) were examined. The examination included history taking, analysis of the seizure diary, clinical and neurological examination, routine EEG and/or EEG-video monitoring, brain MRI, laboratory tests. Therapy with antiepileptic drugs was maintained throughout the study period. All patients were followed-up for at least 1 year.

Results. Cessation of seizures was observed in 36.2% of patients and a >50% reduction in seizure frequency – in 32.5% of patients. The occurrence of side effects of antiepileptic drugs decreased from 56.6% to 26.5%.

Conclusion. The introduction into clinical practice of methods for assessing the factors impacting the treatment outcome in patients with focal epilepsy will allow for monitoring of the treatment efficacy and improve the patient quality of life.

The authors declare the absence of conflict of interest with respect to this publication. All authors contributed equally to this article.

Objective: to analyse the clinical and neurophysiological data from a case of early infantile epileptic encephalopathy type 16 in a child with homozygous mutation in TBC1D24 gene.

Material and methods. Female child M. aged 1 year and 2 months, with identified mutations in TBC1D24 gene was examined. The whole exome sequencing was performed (Next Generation Sequencing with the Illumina HiSeq 1500 platform, USA). Dynamic video-EEG monitoring was conducted with a “Encephalan-Video” RM-19/26 instrument (“Medicom MTD”, Russia).

Results. According to the patient history, on the 22nd day of life, the child developed vocalisms with tonic tension of the limbs. At her 2 months of life, focal myoclonia and myoclono-clonies were noted; at her 4 months – return of tonic seizures with vocalisms followed by eyelid myoclonus, perioral myoclonus, ophthalmoclonia, alternating hemiconvulsions and tonic-clonic seizures. The family history of epilepsy was negative; the parents denied any consanguinity, but admitted a chance of being distant relatives. Neurological examination revealed hypotonic-astatic syndrome and psycho-motor retardation. A video EEG monitoring test detected multiple EEG negative multifocal myoclonic episodes in combination with dystonic hyperkinesia and motor automatism. Although typical epileptiform spike-wave discharges were rare, a focus of low-index spike-wave complexes was identified in the left temporal zone. Therapy with valproates, barbiturates and levetiracetam did not produce any significant effect but benzodiazepines (clonazepam) caused a moderate improvement; a switch to clobazam therapy was then recommended. This case of inherited developmental and epileptic encephalopathy was defined as early infantile epileptic encephalopathy type 16 (OMIM#615338) with autosomal recessive inheritance associated with a previously not described homozygous mutation of the TBC1D24 gene, chr:16:2546775 A>C that caused Tyr209Ser amino acid substitution. Pre-conception testing of the TBC1D24 gene under the IVF condition is recommended to the parents.

Discussion. Since 2010, a few variants of early infantile epileptic encephalopathy type 16 caused by homozygous mutation of the TBC1D24 gene have been described in the literature. This clinical case is closer to progressive myoclonic epilepsy with dystonia (PMED), which indicates the nosological autonomy of this form of epilepsy.

Сonclusion. Children with pharmacoresistant epilepsy and epileptic encephalopathies, as well as those with unusual course of these diseases need genetic assessment with the new generation exom sequencing techniques – such as the “hereditary epilepsy” panel, as well as clinical and full-exom sequencing.

All authors contributed equally to this publication.

Introduction. The cessation of epileptic seizures after surgical treatment of focal epilepsy is the main objective of the surgeon. When a neurosurgeon operates focal cortical dysplasia (FCD), he/she faces difficulties with the radical removal of pathological tissue, which looks similar to healthy one. Using the neuronavigation system may not be helpful because of errors caused by displacement of brain tissues after opening the dura mater and resection of pathological foci. Intraoperative MRI examination requires significant financial expenses. One alternative is the intraoperative ultrasound (US) test, which allows one to visualize areas of pathological tissue in real time.

The aim of this study is to assess the feasibility of using intraoperative US test.

Materials and methods. We conducted a retrospective analysis of 20 cases of pharmacoresistant epilepsy that involved US examination during surgical operation for epilepsy caused by focal cortical dysplasia. In the preoperative period, all patients underwent EEG video monitoring in which at least three seizures were detected. In addition, three patients underwent invasive EEG video monitoring as well as preoperative and postoperative brain MRI. Based on histological verification, the distribution of patients was as follows: Ia type – 1 case (5%); Ib type – 4 cases (20%); Ic type –3 cases (15%); IIa type –3 cases (15%); IIb type – 8 cases (40%); IIIa type – 1 case (5%). Postoperative follow-up continued for 14±10 months (min – 2 months, max – 31 months).

Results. Twenty (100%) patients underwent intraoperative US examination where signs of an altered cortex were found in locations similar to those revealed with preoperative MRI scans. Based on the US images, radical resection of pathological tissues was performed in these patients. In 15 (75%) patients, the seizures stopped (Engel class I). According to the US data, FCD had the following characteristics: hyperechogenicity as compared to the brain parenchyma; uneven, fuzzy, irregularly shaped contours; lack of a clear border between the white and gray matter.

Conclusion. Intraoperative ultrasound is a safe, inexpensive and effective method for intraoperative imaging of FCD.

The authors declare the absence of conflict of interest with respect to this publication. All authors contributed equally to this article.

Introduction. One of the most serious periods in the treatment and follow-up of adolescent patients with early debut epilepsy is the transition to a medical center for adults. It is important to carefully watch any possible replacement of antiepileptic drugs (AEDs), which may affect the further course of epilepsy.

Aim: to study the algorithms and procedures for bringing patients with epilepsy from a pediatric to adult outpatient practice, and also to evaluate the efficacy of therapy with synonymously replaced AEDs during this period.

Materials and methods. A retrospective study involved 218 patients who were transferred from pediatric care to an adult outpatient network. The inclusion criteria were the presence of epilepsy diagnosed in childhood (before age of 18 years), continuous treatment with AEDs, age 18 through 20 years. The exclusion criteria were: irregular observations, failure to comply with medical prescriptions. In case of unplanned pregnancy or failure to take AEDs, the patient was excluded from the ongoing study. History, neurological status, EEG, video EEG monitoring and neuroimaging data were examined. The efficacy of AEDs was graded as “complete remission” (in the absence of epileptic seizures), “incomplete remission” (if the number of seizures dropped by 50% or more), and “without effect” (if the seizures continued). Two groups of patients were analyzed: those receiving original AEDs and those receiving generic AEDs.

Results. The study showed that during the transition to an adult outpatient network, the specialized medical care continued: the young patients were monitored by epileptologists; at the same time, we noted a significant increase in the rate of replacement of original AEDs with the respective generics (54 patients). Of these patients, 25 individuals (46.3%) had recurrent seizures.

Discussion. Maintaining the continuity of specialized medical care depends on the availability of the city center of epilepsy for children. In addition, the network of outpatient clinics for adult patients with epilepsy and other paroxysmal conditions should be organized in each administrative district. The procedure of synonymous AED replacement is regulated by medical and legal documents; thus, the drugs are prescribed according to their INNs, and pharmacies dispense the medicines under the same INNs but with the trade names that are currently available in the stock. According to reports, the seizures are controlled significantly better under therapy with original AEDs compared to generics.

Conclusion. The present study demonstrates the relevance of medical care continuity during transition of young patients with epilepsy from a pediatric to adult outpatient network. However, more extensive comparative studies on the efficacy and safety of synonymous replacement of antiepileptic drugs with the same INNs are needed.

All authors contributed equally to this article.

Aim – experimental evaluation of the antiepileptic activity of a new amide derivative of valproic acid and 1,3,4-thiadiazole.

Materials and Methods: The antiepileptic activity of valprazolamide (N- (5-ethyl-1,3,4-thiadiazol-2-yl) -2-propylpentanamide) was tested in mice using the model of maximal electroshock and also the antagonism model with pentylenetetrazole. Neurotoxicity was assessed with the rotating rod test and the probit analysis. The therapeutic and protective index and the ED50 values were calculated for each experimental model of epilepsy.

Results: The ED50 values of valprazolamide (intraperitoneally) in mice with seizures induced by pentylenetetrazole or maximal electroshock were 74.5 (46.8-106.4) mg/kg or 138.4 (97.2-197.2) mg/kg, respectively.

Conclusion: The new amide derivative of valproic acid and 1,3,4-thiadiazole (valprazolamide) has an antiepileptic activity.

The author declares no financial support or conflict of interest with respect to this publication.

Carbamazepine (CMZ) is a drug from the group of anticonvulsants, similar in chemical structure to tricyclic antidepressants. CMZ is widely used for mental disorders and neurological diseases. The lecture discusses the safety of CMZ in respect to personalized medicine, while considering the pharmacogenetic profile of the patient.

The authors declare about the absence of conflict of interest with respect to this publication. All authors contributed equally to this article.

Introduction. Epilepsy is a neurological disorder characterized by periodic seizure attacks. Around 70–80% of epilepsy cases have a hereditary component.

Aim: to identify the genetic factors of pharmacoresistant epilepsy in children.

Materials and methods. Fifty two patients with epilepsy and psychomotor / speech retardation were examined. We used the next generation sequencing (NGS) technique, which is the targeted exome sequencing, the “Hereditary epilepsy” panel of genes, and the whole exome sequencing assay.

Results. Mutations were detected in 30 (57.7%) patients, while 22 patients had no mutations. In the latter cases, either epilepsy was of non-hereditary nature or the tested nucleotide sequence was located in the non-coding part of the gene (intron); in addition, a chromosomal rearrangement could be involved.

Conclusion. The obtained data illustrate a diagnostic significance of the whole exome sequencing and encourage the interaction between an epileptologist and a geneticist in the diagnostic procedure. Identification of the genetic base of the disease is of great importance for genetic counseling and for selecting an antiepileptic therapy in this group of patients.

The authors declare about the absence of conflict of interest with respect to this publication. Authors contributed equally to this article.

The aim is to present a case of successful implantation of Vagus Nerve Stimulator (VNS) in a woman with drug resistant epilepsy (DRE) during pregnancy. It is the first case of VNS implantation in the Russian Federation. The implantation, follow-up, and programming were carried out in the Bekhterev National Research Medical Centre of Psychiatry and Neurology, Saint-Petersburg.

Material and method. Female patient, 28 y.o., was diagnosed with DRE more than 11 years ago. The course of her epilepsy deteriorated during pregnancy despite of the appropriate antiepileptic treatment. The EEG, MRI, and laboratory tests did not reveal any focal brain lesion that could necessitate surgical resection. After multidisciplinary consultations, no contraindications to VNS procedure were found.

Results. The VNS system was implanted in this patient when she was 18-week-pregnant. The procedure resulted in a seizure reduction and allowed the patient to preserve her pregnancy and deliver a healthy child.

Conclusions. VNS Therapy® is safe and effective for the treatment of DRE. This successful case of VNS implantation in pregnancy opens new venues for the treatment of DRE in this group of patients. 

The authors declare the absence of conflict of interest with respect to this publication. All authors contributed equally to this article.

Within a field meeting of experts from the Russian branch of the League Against Epilepsy (RLAE), diagnostic and treatment aspects of epilepsy were discussed with the emphasis on the female population (girls, women of childbearing and older ages). All experts underscored the special features and unique needs of female patients with epilepsy. Experimental and clinical studies on efficacy and safety of traditional and novel antiepileptic drugs (AEDs) applied to women with epilepsy were discussed. It was commonly agreed that the new generation of AEDs did not yet find an appropriate place in the clinical practice, and that they were mainly used as add-on therapy in order to overcome drug resistance. The current use of AEDs in the treatment of epilepsy is, by large, not gender-specific and is not related enough to age, sociodemographic characteristics, and comorbid disorders. It should be noted that the new AEDs are addressed specifically to individual, socio-demographic, gender and clinical features of the patient. The potential of some AEDs (lamotrigine), in fact, remains underestimated by practitioners. Due to the current restrictions in using valproic acid, lamotrigine is the alternative medication for women with epilepsy. Having a balanced profile of efficacy and safety, lamotrigine is recommended as the first choice drug for initial therapy, as well as an alternative monotherapy for epilepsy in women.

These data were presented at the Russian League Against Epilepsy (RLAE) on-site meeting “Epilepsy and Woman” 18 September 2019 (Ohrid, Makedonia).