Despite significant advances in epileptology, approximately one-third of patients suffer from drug-resistant epilepsy. Numerous approaches are currently available to treat epilepsy; however, there are still many patients with treatment-resistant epilepsy, in whom antiepileptic drugs are ineffective and surgical treatment is impossible. Thus, searching for new effective antiepileptic drugs and alternative treatments (such as vagus nerve stimulation) for these patients remains highly relevant. This literature review covers the indications for and the efficacy and tolerability of vagus nerve stimulation in patients with epilepsy. We also report a case of successful treatment of a patient with drug-resistant epilepsy using this method.

Sudden unexpected death in epilepsy (SUDEP) is the most common cause of death in patients with epilepsy and occurs at least 20 times more often in patients with fore mentioned condition compared with healthy people. During epileptic seizures, a significant proportion of patients develop heart rate variability and respiratory depression. It is assumed that these cardiorespiratory complications are the most probable risk factor for the development of SUDEP. Asystole and ventricular fibrillation, developing immediately after the seizure, are the most significant arrhythmias in the pathophysiology of SUDEP. Discoordination of the autonomic nervous system activity in connection with the involvement of autonomous control centers in epileptic activity leads to the emerging cardiopulmonary pathology. In patients with long-term resistant epilepsy, chronic dysfunction of the autonomic nervous system is formed and, as a consequence, a greater predisposition to the disturbances of heart rhythm. A detailed study of cardiac disorders during epileptic seizures will provide the key for understanding the risks of developing SUDEP and developing some approaches to its prevention.

The authors present a unique clinical observation of the case of a hereditary deficiency of a type 1 glucose transporter, also called de Vivo disease. The type 1 glucose transporter deficiency syndrome (OMIM: 606777, ORPHA: 71277) is an extremely rare genetic disease associated with mutations in the SCL2A gene encoding the transfer of glucose across the blood-brain barrier. The clinical case, given in the article, replenishes the piggy bank of genetically verified glucose transport disruption syndromes leading to the development of polymorphic neurological disorders. The syndrome is most often inherited by an autosomal dominant pathway, but rare cases of autosomal recessive transmission are known. About 500 clinical cases of the present syndrome are described, although, according to various authors, the number of clinically verified cases not confirmed by genetic verification is much higher. In addition to the given data of the clinical course of the disease, detailed results of the genetic interpretation of the hereditary syndrome are given, the modern method of pathogenetic therapy is considered – the ketogenic diet.

The article presents a clinical study of an infant with rare inherited metabolism disorder – molybdenum cofactor deficiency, for the first time in Russian literature. The onset of disorder – in early neonatal period with a suppression syndrome and myoclonic seizures combined with a burstsuppression electroencephalographic patterns, followed by a reveal of psychomotor delay. Сraniofacial dystrophies were present, including craniostenosis and microcephaly. Somatic status was characterized by hepatolienomegaly, dysmetabolic changes of kidneys’ parenchyma (suggested by ultrasound) and crystalluria. Neuroimaging data were contradictory. Neurosonography results allowed diagnosing concomitant inborn brain development defect: true porencephalia of large hemispheres. However, brain magnetic resonance imaging revealed a picture of diffuse leukomalacia with pseudocyst formation, which were considered a consequence of perinatal brain damage. Magnetic resonance imaging revealed a picture of diffuse leukomalacia with pseudocyst formation, which were considered a consequence of perinatal brain damage. Differential diagnosis was held between the early infantile epileptic encephalopathy (Ohtahara syndrome) and early myoclonic encephalopathy (Aicardi syndrome). However, etiology of the disease remained unclear. To eliminate inherited metabolic disease accompanied by epilepsy, Inherited Epilepsy Panel DNA sequencing was used. The results showed a homozygotic mutation on the exon 6 of MOCS2 gene, leading to deletion of amino acid in position 158 of the protein, which was described before in patients with molybdenum cofactor deficiency (OMIM: 252160).

The authors presented short review of Russian and foreign literature and clinical case of the girl with a rare monogenic disease Cohen syndrome and early infantile epileptic encephalopathy. Problems of differential diagnosis of Cohen syndrome with other neuro-oculocutaneous diseases are analyzed.

Pitt–Hoppkins syndrome is rare genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. The syndrome is characterized by specific facial dysmorphism, phychomotor delay, autistic behavior and intellectual disability. Other associated features include ealy-onset myopia, seizures, constipation and hyperventilation-apneic spells. We introduced a clinical case of the patient with molecularly confirmed TCF4 variant and previously undescribed combination with syndrome of the electrical status epilepticus during sleep.

The case history of a two-year-old child with meningo-angiomotosis of the left frontal lobe is described in this article. The special features of the clinical manifestations were two episodes of nonconvulsive status epilepticus and absence of seizures between these episodes. The diagnosis was suspected at the age of 14 months after magnetic resonance imaging investigation. The presurgical investigation/diagnostics before the neurosurgery and the neurosurgery were performed in the Department for Children’s Neurology of Schoen Klinik Vogtareuth (Germany). The results of electroencephalographic video monitoring over 7 days showed derangements in the left fronto-central and temporo-parietal regions. The repeated magnetic resonance imaging showed no progression of tumor growth. At the age of 2 years and 4 months the girl had been operated. A subtotal lobectomy was carried out. The patient showed a positive trend of speech development after the operation. The question of a lateralization of speech center after surgery in Broca’s area is debated in this article.

Benign infantile seizures associated with mild gastroenteritis are a special type of situationally determined seizures in infants. Usually, clinical manifestations are observed between 4 month and 3 years of age, most commonly during the second year of life. Vomiting and diarrhea are the key symptoms, although their severity may vary. Other typical signs include multiple serial seizures (focal, secondarily generalized) over several days accompanying enteric infection (caused by rotavirus, norovirus, rarely sapoviruses, adenovirus, or Coxsackie virus), no changes in the interictal electroencephalogram, and favorable prognosis. Differential diagnosis should include neuroinfections, fluid and electrolyte disorders, epilepsy, and febrile seizures. Examination should include analysis of blood and cerebrospinal fluid and electroencephalography. The majority of patients have normal interictal electroencephalogram. The authors present own observations.