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1p36 deletion syndrome (OMIM: 607872) is an autosomal dominant disease caused by a terminal deletion of the short arm of chromosome 1, characterized by specific craniofacial dysmorphism, delayed speech development and epilepsy. The severity of epilepsy is related to the size of the mutation.Objective: to study the clinical and electroencephalographic picture of the disease.We have analyzed 3 cases (male patients from 2 to 6 years old), including anamnesis of life and disease, electroencephalography data in dynamics and genetic analysis data.All three patients are united by a combination of epilepsy, mental retardation and cerebral palsy-like movement disorders. The epilepsy manifestations varied from severe with absolutely pharmacoresistant epileptic spasms (cases 1 and 2) to mild course with febrile seizures only (case 3). This is probably due to the presence of a shorter mutation in patient 3. Cases 1 and 2 had epileptic encephalopathy, epilepsy with continuing epileptiform discharges on the EEG and a gross delay in speech and mental development. These patients could not speak and not understand the speech addressed, do not follow instructions. Patient 3’ self-care and play activities are developed by age, speech understanding is fully formed, but there is a complete absence of expressive speech.1p36 deletion syndrome is a developmental and epileptic encephalopathy.

The disease caused by mutations in the CDKL5 gene (encoding cyclin-dependent kinase 5, CDK5) belongs to the group of early (infantile) epileptic encephalopathies caused by alterations in the genome. Currently, the disease is called “developmental encephalopathy and epileptic encephalopathy type 2”. This disorder is a complex combination of symptoms that develop due to deficiency or absence of the CDKL5 gene product, which is serine/threonine kinase. The CDKL5 gene is located on X chromosome; the disease has an X-linked dominant inheritance pattern. This literature review summarizes relevant studies analyzing the disease caused by CDKL5 gene mutations, including its genetic and epidemiological aspects, clinical manifestations, characteristics of epilepsy, principles of diagnosis, and therapeutic approaches. We present a case series of several patients with genetic disorders involving the CDKL5 gene.

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.

This article provides a detailed description of clinical and electroanatomical characteristics of epilepsy in patients suffering from epileptic trances – a rare type of focal motor seizures with ambulatory automatism manifesting as an unplanned travel. We reviewed the currently available data on the nature of psychical seizures in patients with epilepsy and the role of social and legal expertise for this disease. We developed the criteria for differential diagnosis between epileptic trances and other conditions with similar manifestations (for example, epileptic fugues) and identified a diagnostic minimum. We also proposed a hypothesis of ictal spatial migration. We emphasized the efficiency of surgical treatment in the case of compliance with a proper diagnostic algorithm.

Abstract: the article presents a review of world literature on significance of various clinical lateralizing signs in temporal lobe epilepsy, such as dystonic posturing, limb automatisms, ictal and postictal aphasia, ictal nystagmus, head turning, periiktal headache, etc. The results of current research are compared with previously published reports. The ictal dystonic unilateral limb posturing (possibly isolated in a hand, foot, predominantly in distal parts of limbs) is still one of the most informative lateralizing signs and it is lateralized in contralateral hemisphere in 100% of cases. It is shown that the “early” and “late” head turning, and unilateral limb automatisms are the most important and convincing lateralizing signs, which must be considered in connection with the EEG data to determine the epileptogenic focus in patients with temporal lobe epilepsy.