Juvenile myoclonic epilepsy (JME) is a type of adolescent-onset idiopathic generalized epilepsy with the appearance of massive myoclonic seizures and, in most cases, generalized convulsions occurring chiefly in the period after awakening. It is assumed that there is a two-locus (dominant and recessive) model of inheritance of JME; moreover, the dominant gene is located on the short arm of chromosome 6. JME is one of the most common types of epilepsy and most frequent among idiopathic generalized epilepsies. Its rate is 5 to 11 % of all types of epilepsy with some female predominance. The diagnosis of JME creates no problems in typical cases. The disease is generally manifested by a concurrence of myoclonic (usually in the hands) and generalized clonic-tonic-clonic seizures occurring during waking. Typical absences and epileptic myoclonus of the eyelid are rarer. Seizures are clearly provoked by sleep deprivation. As in other types of idiopathic epilepsy, the patients’ neurological status is normal; no intellectual disabilities are observed. This type of epilepsy is well treatable and, when initial monotherapy is correctly used, sustainable remission occurs immediately in the vast majority (75–85 %) of the patients with JME. However, the problem of these patients, unlike that of patients with many forms of idiopathic epilepsy, is that sleep pattern disturbance, missing a dose of antiepileptic drugs (AED), or therapy refusal give rise to relapse of seizures in the vast majority of patients even in long-term remission.

Due to the fact that the data available in the literature on the efficacy of therapy in patients with JME and particularly on the results of its discontinuation are contradictory, the authors of the paper conducted an investigation to determine therapeutic effectiveness and the frequency of relapse of seizures in patients with JME during a long-term follow-up.

The study enrolled 106 JME patients who had been regularly followed up at the Saint Luka’s Institute of Pediatric Neurology and Epilepsy for 3 to 28 years (mean 8.6 years). The authors detailed the clinical characteristics of the disease and the results of the investigation in the observed patients. The investigation showed that JME was the second common type (next to rolandic epilepsy) among all idiopathic epilepsies. Clinical remission lasting 3 years or longer was achieved in the vast majority of cases (89.6 %); however, clinical and electroencephalographic remission was in only 22 % of the patients. Treatment was not absolutely ineffective in any of the cases. Monotherapy for JME was used in most patients (79 %), duotherapy in 17 % and polytherapy (3 AEDs) in 4 %. Valproate was most commonly used as monotherapy for JME (56 %); levetiracetam and topiramate were more rarely in 13 and 8 %, respectively.

Unfortunately, despite the high effect of treatment, the recurrence rate during or after discontinuation of AED therapy (which was gradually done under guidance of video-assisted electroencephalographic monitoring at least 3–4 years after remission) was very high (92 %). The recurrence risk was highest when the dose was reduced by more than 50 % and within the first year after therapy discontinuation. Multiple attempts to discontinue the treatment were made at an interval of an average of 4.3-years of remission in a number of patients. The authors identified a number of factors increasing the recurrence risk after withdrawal of an AED.

In accordance with current views, giftedness are considered as the systemic psychic property developing throughout a lifetime, which determines the human possibility of achieving higher (unusual, outstanding) results in one or several kinds of activities as compared to other people. People who are endowed with extraordinary abilities may be infrequently called absolutely somatically and mentally healthy. There are data that giftedness in childhood are frequently concurrent with both somatic diseases and different neurological disorders. Many gifted children are diagnosed as having left-handedness, speech disorders, and autoimmune diseases. There are scientific works on the association of giftedness with neurological and psychiatric disorders, including attention deficit/hyperactivity disorder (ADHD), learning problems (dyslexia in particular), autism (including Asperger’s syndrome), bipolar disorder, and migraine. According to the available data, approximately 3–5 % of children fall into a category of intellectually gifted ones; some children (2–5 to 20 % or more of all gifted children according to different findings) may have learning problems. The terms “twice-gifted” or “twice-exceptional” are proposed to characterize children with giftedness concurrent with learning problems, attention deficit (including ADHD), or other impairments of cognitive functions and behavior (including oppositional disorder and obsessive-compulsive disorder). These children need the more attention of teachers and other correction approaches and adaptation methods to be elaborated as compared to the procedures used for gifted children, on the one hand, and for those with learning problems, behavioral and attention disorders, on the other hand. There is a need for the development and further strengthening of strong suits (gift) and correction, adaptation of deficits in children with “twice exceptionality”. The review presents the history of studying the “twice exceptionality” phenomenon, ideas on its causes, approaches to differential diagnosis, and the specific features of correction methods.

Antiepileptic therapy is one of the most urgent problems in the treatment of Rett’s syndrome. By taking into account a common concurrence of generalized and focal seizures with diffuse epileptiform activity on the electroencephalogram (EEG) in Rett’s syndrome, there are effective broad-spectrum antiepileptic drugs (AEDs): valproates, topiramate, levetiracetam, lamotrigine. Carbamazepine is effective for focal seizures and in the absence of diffuse EEG changes. For atypical absences, ethosuximide may be added to valproates, topiramate, or levetiracetam. Reflex seizures show a high resistance; their frequency is occasionally reduced by AEDs in combination with neuroleptics. Sleep hygiene, as well as medication (clonidine, zolpidem, trazodone, melatonin, risperidone) are recommended to correct various sleep disorders. Dopamine agonists, as well as L-carnitine are used for the drug correction of movement disorders in Rett’s syndrome. Therapeutic exercises are one of the most optimal ways to correct movement disorders. Orthopedic correction, including surgery, is indicated for skeletal deformities. Vitamin D used for long periods of time is beneficial, by considering its deficiency and osteoporosis at a fracture risk in Rett’s syndrome patients who receive AEDs particularly long. A special high-fat diet and a fractional diet in small portions are used in the therapy of cachexia and growth retardation due to oral dysfunction and malnutrition. A cardiological follow-up is needed in abnormalities, such as prolonged Q interval, tachyarrhythmia, and cardiac structural anomalies. Systematic learning to maintain communication and motor skills are of importance. In this case a special role is played by music therapy that exerts a calming effect on patients and partially compensates for loss of contact with the environment.

Lennox–Gastaut syndrome (LGS) is childhood-onset epileptic encephalopathy manifested by frequent polymorphic seizures, including tonic axial, obvious cognitive impairments, characteristic ECG changes, and therapeutic resistance. Due to the concurrence of several types of seizures in the clinical presentation of the disease and their resistance to drug therapy, great hopes are pinned on the design of novel antiepileptic drugs with fundamentally other mechanisms of action and aimed specially at treating this severe type of epilepsy. The authors review the foreign literature on the new antiepileptic drug rufinamide (Inovelon) registered in Russia in January 2015 to directly treat LGS as adjunctive treatment in children 4 years and older and adults. Multiple trials have demonstrated that rufinamide has efficacy and good tolerability in treating LGS.

The authors describe an observed case of the efficacy of rufinamide in a 17-year-old male patient with LGS. Despite the drug resistance of epilepsy and no response to multiple antiepileptic drugs used alone and in different combinations, the incorporation of rufinamide into a treatment regimen had a pronounced therapeutic effect: the frequency of convulsive seizures decreased by 70 %. At the time of writing this paper, the patient has been receiving rufinamide for more 5 months. He has been tolerating the therapy well.

Multiple sclerosis (MS) is prominent among central nervous system diseases. It affects chiefly young people and almost inevitably results in disability. In the past decade, there has been an upward trend for the prevalence of MS worldwide; in particular, the higher prevalence of this disease has been registered in the Moscow Region, which is associated with both an objective increase in its morbidity and improvement of specialized care to the population in the region. MS is characterized by a variety of clinical manifestations. However, paroxysmal disturbances are referred to as the rare symptoms of MS: the incidence of epileptic seizures in this condition is 0.89 to 7.5% according to the literature data. In addition to the clinical form of MS, there are its rare malignant atypical forms that also include its pseudotumoral form characterized by intrinsic neuroimaging and clinical signs that are different from the classical form of MS and another abnormality of the central nervous system. The pseudotumoral form of MS is characterized by the development of acute focal demyelination that appears as a large focus of an increased magnetic resonance signal with perifocal edema as evidenced by magnetic resonance imaging. A pseudotumoral focus of demyelination can occur both at the onset of MS and during its recurrent course. The atypical onset of MS is a special challenge because of diagnostic problems, which may lead to erroneous therapeutic policy and have a negative impact on the late prognosis of the disease. The authors provide a clinical case of the pseudotumoral form of MS with convulsive seizures at the onset of demyelinating disease. The problems of diagnosis and therapeutic approaches are discussed.

The differential diagnosis of epilepsy and other paroxysmal states mimicking this condition is very important in the daily activity of a neurologist (an epileptologist) since diagnostic accuracy directly ensures the efficacy and safety of treatment. According the data available in the literature, both overdiagnosis of epilepsy (20–25 % of all new diagnosed cases) and its underdiagnosis (as high as 10 %) are frequent diagnostic errors. Such errors are most commonly related to the misinterpretation of electrophysiological evidence in both young patients (in whom paroxysmal phenomena are a result of functional immaturity of brain structures) and elderly patients (in whom paroxysmal activity is a consequence of the development of degenerative processes in the neurons).

Objective: to show examples of electroencephalographic (EEG) paroxysmal activity in old age group patients suffering from non-epileptic paroxysms.

Now EEG investigation is a highly sensitive technique that requires a physician’s knowledge of neuroanatomy and neurophysiology to correct interpretation of the findings. Non-epileptiform paroxysmal events may be detected not only in children who have immature cerebral cortical neurons and median brainstem structures, but also in the elderly in whom their emergence is due to the development of degenerative processes in the neurons. The similarity of these phenomena with typical EEG epileptiform patterns is not coincidental. The basis for their occurrence is the similar mechanism for glutamate excitotoxicity, but, unlike epilepsy, which is triggered by ischemic and hypoxic processes, rather than by the exhausted reserve abilities of nerve cells during overstimulation. Therefore the detection of this pathological EEG paroxysmal activity calls for careful differential diagnosis.

5 января 2016 г. исполняется 90 лет Владимиру Алексеевичу Карлову – выдающемуся ученому, основателю современной эпилептологии в нашей стране.

Мы благодарим всех, кто прислал ответы на вопросы тестового контроля, опубликованные в предыдущем номере нашего журнала.