Despite the significant advances in epileptology, including various new effective treatments for drug-resistant epilepsy in children, there is still a relatively large proportion of patients ineligible for surgery and alternative treatments (such as vagus nerve stimulation and ketogenic diet). Drug-resistant epilepsy accounts for approximately 30 % of all forms of epilepsy and is particularly common among patients with focal seizures. The search for new antiepileptic drugs (AEDs) is critical for these patients.
Perampanel (Fycompa®, Eisai) is a novel AED that employs a fundamentally different mechanism of action compared to existing AEDs. Perampanel is a powerful highly selective non-competitive postsynaptic AMPA receptor antagonist acting at the level of neocortex and in the hippocampus. Phase III clinical trials demonstrated its high efficacy and good tolerability in patients with drug-resistant focal seizures. Randomized placebo-controlled trials assessing the efficacy of perampanel as add-on therapy showed that perampanel at a dose of 4–12 mg/day significantly reduced the frequency of focal seizures in patients with drug-resistant epilepsy along with a good safety and tolerability profile.
Open-label observational studies and studies analyzing long-term therapy also demonstrated high efficacy and safety of long-term treatment with perampanel (up to 3 years), as well as good retention rate. The drug has a once-daily dosing schedule, which is very comfortable for patients.
In 2012, perampanel (Fycompa®) was approved for epilepsy patients in the USA and Europe. In 2013, it was approved in Russia as an add-on therapy for patients aged 12 years and older with focal and secondary generalized seizures. On 29.06.2015, it was also approved for polytherapy of generalized tonic-clonic seizures in patients aged 12 years and older with idiopathic generalized epilepsy.
On 07.12.2020, perampanel was approved for children aged 4 years and older (body weight >30 kg) as a part of polytherapy for focal and secondary generalized seizures and for children aged 7 years and older with idiopathic generalized epilepsy as a part of polytherapy for generalized tonic-clonic seizures.
Currently, there is limited evidence of perampanel efficacy in children in Russia.
The study aimed to evaluate the efficacy and tolerability of perampanel in children (aged 4–11 years) and adolescents (aged 12–18 years) with epilepsy treated and followed-up at Svt. Luka’s Institute of Child Neurology and Epilepsy.
Materials and methods. This study included 136 patients (aged 4–18 years; 75 males and 61 females) who received perampanel and were followed-up for at least 6 months at our institution. Patients were divided into two groups: children (aged 4–11 years; n = 105) and adolescents (aged 12–18 years; n = 31).
The following types of epilepsy were diagnosed in study participants: structural focal epilepsy (n = 60), genetic epilepsy (n = 61; including Dravet syndrome, Angelman syndrome, Lafora disease, mutations in the PCDH19, PHACTR1, CDKL5, ARX, PING, SCN2A, KIAA2022 genes, chromosome microdeletions, etc.), focal epilepsy of unknown etiology (n = 12), idiopathic epilepsy (n = 3). In all cases, perampanel was used as an additional AED, often in combination with valproic acid. Dose adjustment was performed according to the package insert (by increments of 2 mg either weekly or every 2 weeks) up to a therapeutic dose of 4–12 mg/day at bedtime.
Results. In children (aged 4–11 years; n = 105), seizure remission was achieved in 29 cases (27.6 %). Fifty-five children (52.4 %) had ≥50 % efficacy, whereas 17 children (16.2 %) had <50 % reduction in seizure frequency or no effect. Four patients (3.4 %) reported aggravation of seizures. A significant therapeutic effect (remission or at least 50 % reduction in seizure frequency) was registered in 84 out of 105 patients (80 %). Parents of 23 children also reported better development and improved skill acquisition along with a reduced frequency of seizures (in 34 % of 67 children with cognitive disorders). Parents of 8 children who had sleeping difficulties (trouble falling asleep, restless sleep, frequent awakenings) reported an improvement of sleep.
Among adolescents (n = 31), we observed the following parameters of treatment efficacy: 9 of them (29 %) achieved seizure remission; 15 patients (48.4%) had 50 % efficacy; 6 patients (19.4 %) had <50 % reduction in seizure frequency or no effect; one patient (3.2 %) had seizure aggravation. Thus, good therapeutic effect (remission or at least 50 % reduction in seizure frequency) was achieved in 24 out of 31 patients (77 %).
Therapy with perampanel was effective (remission or at least 50 % reduction in seizure frequency) in 108 out of 136 patients aged 4–18 years (79.4 %). The overall seizure remission rate reached 27.9 % (38 out of 136 patients).
The inclusion of perampanel into polytherapy resulted in suppression of epileptiform activity on the electroencephalogram (EEG) or in a significantly reduced index of epileptiform activity in 38 out of 112 patients who underwent followup EEG examination (i.e. in more than one-third of cases).
Adverse events were registered in 41 patients out of 136 (30.1 %).
Perampanel was discontinued in 15 out of 136 patients (11 %) due to tolerability issues primarily because of psychiatric adverse events (5.9 % from the total number of patients).
The 12-month retention rate in children and adolescents was 78.7 % (107 out of 136 patients).
Conclusion. Perampanel was highly effective in children and adolescents with genetic and structural focal epilepsy. The drug has a convenient once-daily dosing schedule with slow titration and is well tolerated by patients during longterm therapy. Our results demonstrate that perampanel is also effective in children below 12 years of age, even at a dose of 2–4 mg/day; it is well tolerated and is comfortable for use. Its efficacy and tolerability did not differ significantly between children and adolescents. Our findings suggest that perampanel is highly effective in patients with some forms of genetic epilepsy.
Perampanel should be used not only for drug-resistant epilepsy, but also as the first additional drug in combination therapy for epilepsy, since it is likely to improve treatment efficacy and ensure better tolerability.

Genetic focal age-dependent epilepsy accounts for 25% of epilepsy in children with non-febrile seizures and is a genetically determined focal pathology. The main pattern of interictal pathological activity include benign epileptiform discharges of childhood from the centrotemporal leads in patients with rolandic epilepsy and discharges from the posterior parietooccipital leads in patients with occipital epilepsy. We followed-up 72 patients with benign agedependent focal epilepsy aged 6 months to 10 years for a year to assess the electroencephalographic location of pathological activity areas in dynamics. Electroencephalography demonstrated a variety of locations of pathological activity both at disease onset and after one year of follow-up, as well as migration of this activity, regardless of age, gender, and therapy.

We describe the diagnosis of and treatment for brain compression on background of hemostasis disorders in 6 out of 37 patients with hemorrhagic strokes treated in the Ivano-Matreninskaya Children’s Clinical Hospital in 2017–2018. Laboratory examination revealed factor VIII deficiency (hemophilia A) in 3 patients, factor XIII deficiency in one patient; 2 children were carriers of thrombophilia genetic polymorphisms. The age of study participants varied between 15 days and 2 years; all of them were males. They have undergone neurological examination, laboratory testing (hemostasis), neurosonography, multislice computed tomography, and magnetic resonance imaging. Conservative therapy with quarantined fresh frozen plasma (15–25 mL/kg) was used to correct coagulopathy and stop bleeding. Two patients had surgeries: decompressive craniectomy and drainage and endoscopic removal of hematoma. Children that were operated on received transfusion of fresh frozen plasma and red blood cells. Both of them had regression of neurological symptoms and restoration of consciousness in the postoperative period. None of the patients died. In this article, we discuss diagnostics and strategy of conservative and surgical treatment for children with brain compression and coagulopathies.

Neuromyelitis optica spectrum disorders are rare chronic autoimmune inflammatory demyelinating diseases of the central nervous system. Considering that the increase in neurological deficit in neuromyelitis optica spectrum disorders is mainly due to repeated exacerbations, the goals of pharmacotherapy are represented by the relief of relapses and the prevention of their development. Information about indications for therapy and side effects is necessary to identify the benefits and risks for patients with neuromyelitis optica spectrum disorders in each individual case.

Electroencephalography (EEG) enables the recording and analysis of fast physiological processes in the cerebral cortex, which is currently virtually impossible for the majority of methods of functional brain examination. However, there is a certain stagnation in the EEG technology that requires some improvement in both methodological and technical approaches to EEG.
Objective: to analyze the capacities of EEG and its role in current medical diagnostics. The majority of EEG machines have 8 to 32 recording channels and use the 10–20 electrode placement system. This results in loosing a substantial amount of information due to limited registration of some bioelectric activity and prevents using EEG data together with high-resolution neuroimaging.
This issue can be addressed by EEG machines with high-density recording and multiple primary electroencephalographic sensors (at least 128), which ensures minimal loss of information at the first stage. However, such systems require an absolutely different approach to the analysis of EEG recordings. Larger amount of information (compared to conventional EEG) necessitates the implementation of various mathematical methods to analyze the recorded signals, as well as more extensive use of techniques for combining this data with findings of other diagnostic methods, primarily magnetic resonance imaging and functional magnetic resonance imaging. This will open new horizons for the investigation of bioelectric activity of the human brain.

Kabuki syndrome (KS) is a rare genetic disorder that has facial phenotypic descriptors, retarded growth, various malformations and different degrees of intellectual disability.
Objective: to study the characteristic features of KS comorbid with West syndrome according to literature review and data collection together with KS described clinically, and treatment success rates by the clinical case study research.
There was conducting literature review on the topic in the databases OMIM, PubMed, Scopus, and e-library. The articles describing cases of epilepsy in patients with KS were analyzed. We conducted our own observation of KS in the male patient with epilepsy and West syndrome in a patient with KS was analyzed by the clinical case study research.
Kabuki syndrome comorbid with West syndrome increases neurological deficits and leads to the formation of a marked delay in mental and speech development and psychomotor development retardation. Peculiarities of the treatment of KS comorbid with West syndrome are the lack of efficacy of antiepileptic drugs, and the very visible effectiveness of the ketogenic diet, together with an atypical response to hormone replacement therapy in the form of distinct positive dynamics – a clinically meaningful reduction in seizure frequency along with elevated liver enzymes.

CADASIL syndrome (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a rare hereditary disease affecting the brain associated with a mutation of the NOTCH3 gene on the 19th chromosome. Additional difficulties arise with the comorbidity of CADASIL syndrome with other brain diseases that affect the white matter, for example, multiple sclerosis or similar diseases. In the presented clinical case, in addition to the genetically proven CADASIL syndrome, the patient had symptoms (awkwardness in her right hand, retrobulbar neuritis), which made us suspect a demyelinating disease. Magnetic resonance imaging revealed foci in the white matter of the brain without the accumulation of contrast and without infratentorial and stem foci. The type of synthesis of oligoclonal antibodies has been found to be typical of multiple sclerosis. The level of antibodies to MOG was also slightly increased. To clarify the diagnosis and prescribe the correct treatment, the patient is shown an additional examination.

Symptomatic non-convulsive status epilepticus develops in intensive care unit patients without a history of epilepsy. It is diagnosed using video electroencephalographic monitoring. Electroencephalographic patterns of status epilepticus are not specific. Epileptiform activity must be recorded. When status epilepticus is prolonged, epileptiform activity changes in frequency, morphology, and localization. Rhythmic non-epileptiform patterns are also recorded on the electroencephalogram. The character of the electroencephalogram is influenced by acute cerebral insufficiency, disruption of the mechanisms of generation of bioelectric activity, and intensive therapy. As an illustration of symptomatic status epilepticus we present the case of a 15-year-old patient with acute lymphoblastic leukemia. This clinical case demonstrates the origin and course of symptomatic status epilepticus according to electroencephalography data. Timely diagnosis and relief of status epilepticus reduce the risk of epilepsy and neurological deficits in cancer patients after recovery from an urgent state.