[The diagnosis of idiopathic epilepsy in children based on the algorithm of molecular-genetic studies]. / Diagnostika idiopaticheskikh form epilepsii u detei na osnovanii algoritma molekulyarno-geneticheskogo issledovaniya.

AIM: To study mutations and polymorphisms in the sodium channels genes, determining the development of idiopathic epilepsy (IE). MATERIAL AND METHODS: The study of SCN1A gene by direct Sanger sequencing in 53 patients and targeted resequencing of the regions of 34 genes in 40 patients with different clinical forms of IE was performed. RESULTS: Seven mutations (c.3022G>T, c.3637C>T, c.1144G>T, c.80G>C, c.1603C>T, c.2427G>A and c.1131A>C) were detected among 53 patients by direct Sanger sequencing of SCN1A gene. The mutations of SCN1A gene (2 - nonsense mutation, 5 - missense mutation) were identified in 7/40 (17.5%) patients with epilepsy using high-performance sequencing, Mutations in sodium channel genes encoding other subunits: SCN1B, SCN2A, SCN9A were identified in 6 patients. CONCLUSION: As epileptic encephalopathy is polygenic, it is important to conduct genetic testing of more genes (primarily sodium channel genes - SCN1B, SCN2A, SCN9A etc.) using special gene panels to find the molecular defect in DNA.

[The retrospective study of efficacy and safety of levetiracetam as an add-on treatment of epilepsy in children].

The objective was to retrospectively study the efficacy and safety of levetiracetam (keppra) as an add-on treatment of pharmacoresistant forms of epilepsy in children. We have analyzed medical histories of 192 patients with pharmacoresistant epilepsy admitted to a neurological department of the Research and Treatment Center of Children's Medical Care over the period of 2008-2011. The patient's age varied in the range from 6 months to 19 years (mean age 5.7 years). The results of the study revealed the high efficacy of levetiracetam as an add-on treatment of pharmacoresistant epilepsy in children. The efficacy of > 50%, including patients in the remission, was found in 60.2%, the remission of more than 6 months was observed in 20.3% of patients. The efficacy of levetiracetam was higher in the treatment of the following variants of pharmacoresistant epilepsy: seizures caused by brain defects (the efficacy of > 50% was seen in 66.7% of patients), atypical rolandic epilepsy (the efficacy of > 50% was seen in 100% of patients). The efficacy of levetiracetam was not correlated with the priority of prescription of the drug that might be explained by the unique mechanism of the action of this anticonvulsant. Levetiracetam is well tolerated in the children age. Side-effects that were not life threatening were noted only in 6.2% of patients and the retention rate was 75.5%. The aggravation of seizures and EEG abnormalities, regardless of the epilepsy form, type of seizure, drug dose or the combination of anticonvulsants were seen in 5.7% of patients.

[Video-EEG monitoring in the diagnosis of epilepsy in children].

This paper analyzes the results of a survey of 785 patients referred to our hospital with a diagnosis of epilepsy. Diagnosis of forms of epilepsy and definition of the localization of epileptogenic focus in patients with focal epilepsy (FE) were performed using the method of video-EEG monitoring. Every fifth patient with suspected ongoing seizures has nonepileptic paroxysms. FE was found in 92,6% of patients in a children's epileptological hospital and about half of them (48,2%) had a frontal localization. The presence of <> types of seizures and <> epileptiform activity on EEG was the feature of FE at the early age. The discordance of interictal focus and onset zones was observed in 22,8% of cases; 9,4% of patients with FE had more than one cortical area responsible for the generation of epileptic seizures. The localization of the epileptogenic zone can not be reliably established without an analysis of ictal EEG. All these cases are related to the early childhood (0-3 years), which indicates the need for recording multiple seizures (> 5) to identify the epileptogenic zone in this age group. Accuracy and reliability of diagnosis have special value in case of preparation of the patient with FE to surgical treatment.

[Noninvasive video-EEG-monitoring in the diagnosis of focal epilepsy in children].

UNLABELLED: Aims of the study include diagnosis of focal epilepsy, determination of localization of interictal and ictal epileptiform activity. 785 patients (age range -- 1 month-21 year) with admission diagnosis "epilepsy" were analyzed. Video-EEG-monitoring using a 21-chanel EEG system with duration 9-96 hours (mean -- 10 hours) was applied. The diagnosis of epilepsy was confirmed in 634 patients (80.8%) while in 151 patient (19.2%) non-epileptic paroxysms were diagnosed. Generalized epilepsy (GE) was diagnoses in 47 cases (7.4%), focal (FE) -- in 587 (92.6%) cases. According to localization, distribution was the following: frontal -- 48.2%, temporal -- 30.8%, occipital -- 10%, parietal -- 5.5%, multifocal -- 5.5%. 45% of patients with FE younger than 3 years had marked generalized seizures known as infantile spasms. Among 587 patients with FE discrepancy of localization of interictal focus and zone of seizure onset was found in 41 cases (7%), mainly in younger patients. In 14 cases (2.4%) we observed more than one zone of seizure onset: 2 -- in 13, 3 -- in 1, both in frontal and left temporal areas (all specified patients are from the younger group). CONCLUSIONS: 1) every fifth patients with primarily diagnosed epilepsy does not suffer from this disease; 2) 92.6% of patients in pediatric epileptologic clinic have FE, about half of them have frontal localization of the focus; 3) presence of generalized types of seizures mimicking GE is an important feature of FE in younger patients; 4) In some patients with FE, especially in younger ones, discrepancy of localization of interictal epileptiform activity and zone of seizure onset is found, we also observed that more than one zone was producing attacks. The specified features are necessary for consideration during preoperative assessment.

[Use of ketogenic diet in treatment of pharmacoresistant epilepsy]. / Primenenie ketogennoi diety v lechenii farmakorezistentnykh épilepsii.

Ketogenic diet (KD) is one of the most effective methods of epilepsy non-drug therapy. Ten patients with pharmacoresistant epilepsy, aged 1.5-18 years, were treated with individually matched and strictly controlled KD with high fat content and restricted amount of proteins and carbohydrates. After 1 year, only 4 patients kept the diet. Factors of efficacy, causes of withdrawal and side effects of KD are discussed.

[Gelastic seizures: etiology, semiology, therapeutic perspectives]. / Gelasticheskie pripadki: étiologiia, semiologiia, terapevticheskie perspektivy.

Gelastic seizures (laughing seizures) are a rare type of epileptic seizure in which laugh in a main and dominating manifestation of the seizure. As a rule, the seizures are caused by organic cerebral pathology and are often reported as a specific epilepsy marker related to hypothalamic hamartoma. The interictal EEG frequently shows a focal activity. Based on examination of 2 patients with gelastic seizures and hypothalamic hamartoma, clinical features, EEG characteristics and therapeutic perspectives for the disorder are discussed.

[Rasmussen's chronic progressive focal encephalitis]. / Khronicheskii progressiruiushchii ochagovyi éntsefalit Rasmussena.

Chronic progressive focal encephalitis or Rasmussen encephalitis (RE) is chronic brain disease of viral etiology. It is manifested by either partial motor or myoclonic seizures combined with hemiparesis. RE was described in detail in a girl of 8.5 years. The disease debut was observed at the age of 5.5 and manifested in the form of simple partial motor fits with serial episodes of secondary generalization. Post-attack hemiparesis was observed from the age of 7.5 and became permanent after 8. From this time myoclonic fits became constant, changed for the worse, memory and attention deteriorated. NMR tomography revealed widening and deepening of the Sylvian fissure as well as a focal decrease of left temporal area density. The patient was resistant to anticonvulsant, hormonal and immunosuppressive drugs. The criteria of RE diagnosis, its difference from Kozhevnikov's epilepsy are provided. Estimation of drug and surgical treatment effectivity is given. The necessity of early surgical treatment (functional hemisphere ectomy) is emphasized.