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.
Introduction. Cortical dysplasias (CDs) encompass a wide variety of disorders that in most cases lead to epilepsy, especially in infants and young children. MRI diagnosis of CDs is a major part of presurgical examination of pediatric patients with resistant focal epilepsy.Aim. To identify MR markers of CD in the immature brain and develop an MRI protocol for early diagnosis of CDs.Materials and methods. Children aged <2 y.o. (total 128) diagnosed with focal epilepsy were examined over 2017-2019. All MRI scans were performed using the GE 3 T system (General Electric, USA) in the standard MR sequences including T2WI FSE, T1 SE, FLAIR, DWI, SWAN, and FSPGR BRAVO supported with anesthesiological assistance. Аll patients were divided into 3 groups according to the degree of brain maturity; of those, 28 patients had MR signs of CD.Results. The rate of detection of small-size cortical malformations, such as nodular heterotopies or focal cortical dysplasias was significantly higher in groups of patients whose brains (according to MR images) were at the infantile or adult phases of myelination. In children with the isointensive phase myelination, only large cortical dysplasias could be identified. In the first phase, the focal malformations had low amplitude signals in T2-weighted images and high amplitude signals in T1, unlike those in adult patients. In the isointensive phase, the quality of visualization was significantly reduced and provided poor diagnostic information.Conclusion. The results confirm the diagnostic significance of early (before age of 5 months) MRI testing in cases with suspected CD-associated focal epilepsy. However, at the period between 5 and 12 months of age, MR imaging was ineffective for CD diagnosing. Later, in the period from 12 to 15 months, the MRI ability to identify the CDs gradually increased. We consider the standard T2 weighted images with high TR values, the most effective MR modality for diagnosing CDs in young children.
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.
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.
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