Dravet syndrome (DS, severe myoclonic epilepsy of early infancy) is epileptic encephalopathy with onset in the first year of life, manifested with febrile and afebrile generalized and focal seizures, with the presence of myoclonic paroxysms in typical cases, mental retardation, and resistance to antiepileptic therapy. The disease was for the first time described by Ch. Dravet in 1978 in France, then, in details, by Сh. Dravet et al. in 1982. In the classification of 1989, DS held a particular place being attributed to the forms of epilepsy that have both generalized and focal clinical manifestations. According to Proposed diagnostic scheme for people with epileptic seizures and with epilepsy (2001), this disease is attributed to epileptic encephalopathies of early infancy. The main reason of DS development is a mutation in the SCN1A gene revealed with most (but not all) patients. It is assumed that there are certain other mutations that determine DS development, in particular, the GABRG2 mutation. Polymorphism of epileptic seizures is typical of the DS: febrile seizures, focal motor (including hemiclonic and secondarily generalized), generalized tonic and clonic, alternating hemiconvulsions, myoclonic, atypical absences, focal dialeptic seizures, as well as epileptic status. The prognosis of the disease is severe. In most cases, seizures continue to occur in adult life but with lower frequency than in childhood. The authors review the issues of etiology and pathogenesis in details, as well as clinical manifestations, diagnostics, and treatment of the DS. A particular emphasis is given to pathological changes on electroencephalogram (EEG) of patients with DS. Distinct slowing of background activity, prevalence of multiregional epileptiform activity, regional slowing, and severe photosensitivity (pattern sensitivity) are the most prognostically unfavorable EEG patterns of the DS.

Perampanel (Fycompa, Eisai LLC) is the most recent antiepileptic drug registered for application for additional therapy of patients of 12 y.o. and older with focal and secondary generalized seizures. Perampanel was licensed in the USA and European countries in 2012; it was registered in 2013 and entered the pharmaceutical market of Russia in 2014. Perampanel has a fundamentally different mechanism of antiepileptic action, different from other antiepileptic drugs. Perampanel is a powerful highly selective noncompetitive inhibitor of ionotropic AMPA receptors of postsynaptic membranes of neurons on level of the neocortex and the hippocampus. Efficacy and tolerability of perampanel with resistant focal seizures were proved in clinical studies of the III phase. Randomized placebo controlled studies of additional therapy with perampanel demonstrated the fact that intake of the drug in the dosage of 4 to 12 mg/day, which validly decreases the frequency of focal seizures of patients with pharmacoresistant epilepsy with favorable indicators of safety and tolerability. Open observational studies as well as long-term therapy studies also demonstrated favorable indicators of efficacy and safety with long-term treatment (up to 3 years) and long-term maintenance of therapeutic effect. The objective of the evaluation was study of efficacy and tolerability of perampanel (Fycompa) for additional therapy of patients with resistant forms of epilepsy. The study included 12 patients (6 males and 6 females) at the age of 3 to 37 y.o. with the intake of Fycompa with the period of follow-up study of over 6 months. All patients suffered from severe resistant forms of epilepsy (6 cases are genetic diseases, 6 cases are symptomatic focal epilepsy). Efficacy and good tolerability of Fycompa were marked. In general, decreasing of duration and/or severity of seizures was marked in 83% of cases. No serious side effects were registered. The authors made the conclusion of favorable prospectives of intake of Fycompa in various populations of patients that suffer from epilepsy.

Epileptic spasms are epileptic seizures with sudden flexion/extension or of the mixed flexion and extension type, mainly involving the proximal and truncal muscles, that are normally longer than myoclonic seizures but shorter than tonic seizures, and last for about 1 second. For diagnostics of epileptic spasms, it is necessary that they are combined with ictal and interictal epileptiform patterns on electroencephalography (EEG). The first detailed clinical description of seizures of the infantile spasms type was provided by English pediatrician W.J. West in 1841. The term of infantile spasms is limited with age and means epileptic spasms that occur to children in early infancy, usually up to 1 y.o. Infantile spasms cannot be synonymous to the West syndrome. Infantile spasms are a type of epileptic seizures and West syndrome is a form of epilepsy that is usually manifested through hypsarrhythmia on the EEG and mental retardation, apart from infantile spasms. Epileptic spasms is the term broader than infantile spasms. Committee of the International League Against Epilepsy (ILAE) recommends exactly the “epileptic spasms” term, as this type of seizures is not a prerogative of the West syndrome and can be observed in children older than 1 y.o. and even in adults. The authors provided a detailed review of modern references devoted to epileptic spasms including the history of the issue, determination of the term, and position of epileptic spasms in modern classification systems, approaches to diagnostics including differential diagnosis, treatment, and prognosis.

The authors reviewed general principles of epilepsy treatment in details as well as provided their proprietary algorithm of selection of antiepileptic drugs developed Svt. Luka's Institute of Child Neurology and Epilepsy. This algorithm is designed for general practitioners that deal with treatment of epilepsy. In the course of selection of the first antiepileptic drug, the doctor must take into consideration the age of the patient, assess their level of development, clinical manifestations of seizures, data of electroencephalography and magnetic resonance imaging. The data received allows determination of the type of seizures, supposing of the syndrome-related diagnosis, and selection of the most appropriate antiepileptic drug of first choice in each specific case. There are also recommendations for further examination of patients and monitoring of efficacy of therapy.

Epilepsy is a chronic brain disease that requires long therapy and continuous careful supervision of the status of the patient. In connection with this, both overdiagnosis and underdiagnosis of this disease is extremely dangerous. Overdiagnosis causes ungrounded social "label", limitation in rights, significant decreasing quality of life of the patient, family problems, prescription of long-term anti-epileptic therapy that may cause potential side effects. Underdiagnosis of epilepsy frequently causes further resistance of seizures to therapy, they become more frequent, there appears the possibility of development of epileptic status, life threatening situations, possibility of development of cognitive disorders associated with the disease. A significant progress in epileptology and medical technologies (video electroencephalographic (EEG) monitoring, neuroimaging methods, genetic studies) that has been marked in recent decades has allowed minimizing errors of physicians. Despite this, certain difficulties still remain in diagnostics of epilepsy. In the author's opinion, there is a range of epileptic seizures visual assessment of which is extremely difficult and is literally impossible without video EEG monitoring. Short, phantom, atypical absences, absences on the outside, epileptic myoclonus of the eyelids with or without absences, myoclonic, tonic, gelastic, focal hyperkinetic seizures, epileptic aura, reversing focal seizures, epileptic spasms, ictal syncopes, negative myoclonus, focal epileptic myoclonus, epileptic seizures arising when closing the eyes, and self-induced seizures can be attributed to such seizures with difficulties in diagnosis. The author reviews each of these types epileptic seizures in details focusing the attention on their diagnostic criteria and characteristics of the clinical and the EEF features that are of utmost importance in the course of performance of differential diagnostics. Own experience of the author and data of literature show that one should perform final interpretation of paroxysmal states only after video EEG monitoring for the purpose of minimizing diagnostic errors.

Distonia is a movement disorder associated with imbalance of excitatory neurotransmitters, and it is characterized by continuous or episodic muscle contraction that forms repetitive stereotyped movements and/or postures. Dystonic hyperkinesia of younger children can be included into the structure of many syndromes that have different etiological factors, prognosis, and treatment. Different clinical variant of dystonia are represented: idiopathic benign dystonia with the onset in the first year of life; dystonia against the background of residual damage to the nervous system; hereditary idiopathic and symptomatic dystonia with various syndromes and metabolic diseases; similar conditions. Diagnostics of dystonia of children requires application of a wide range of examinations, including neuroimaging, continuous video electroencephalographic monitoring, genetic research. Differential diagnosis of dystonia of children is performed regarding various paroxysmal states of childhood of the epileptic and non-epileptic nature.

In spite of the significant progress achieved in epileptology, resistant forms of epilepsy comprise about 30 % of all cases of epilepsy. The articles reviews modern concepts and basic mechanisms of pharmacoresistance, as well as the ways to overcome them. The authors presented a detailed review of modern literature devoted to studies of efficacy, safety, and tolerability of the new antiepileptic drug (AED) lacosamide (Vimpat®) with uncontrolled epilepsy. Lacosamidе is registered in Russia for additional therapy of patients of 16 y.o. and older with focal seizures with or without secondary generalization. The drug is a functionalized amino acid. The assumed action mechanism differs from that of other AEDs: this drug selectively lowers the pathological hyperactivity of neurons without affecting their physiological activity, decreases abnormal epileptogenic neuronal excitability, selectively enhances slow inactivation of sodium channels without affecting rapid inactivation. Lacosamidе has the following pharmacokinetic advantages: linear kinetics; the drug is a weak inducer of liver enzymes (CYP) and, therefore, does not alter the metabolism of other AEDs and is only slightly bound to plasma proteins (< 15 %). Clinical studies have shown the efficacy and good tolerability of lacosamidе by patients with focal seizures; the dosage of the drug of 400 mg/day was assessedto be optimal. Efficacy and good tolerability of lacosamidе has been confirmed by postmarketing studies after beginning of its broad use in clinical practice. Frequent side effects associated with the therapy ( 15 %) include dizziness, headache, drowsiness, nausea, and diplopia. Concurrent intake of other AEDs that block sodium channels statistically significantly increased the risk of arising of side effects associated with the therapy. Pharmacoeconomic analysis of several studies showed favorable indicator of lacosamidе regarding the cost/efficacy criterion for treatment of focal epileptic seizures resistant to therapy.