Epilepsy and Paroxysmal Conditions最新文献

{"title":"Whole-exome sequencing of patients with juvenile myoclonic epilepsy","authors":"E. E. Timechko, O. Shilkina, N. V. Oreshkova, V. O. Kobanenko, E. A. Osipova, N. Shnayder, D. Dmitrenko","doi":"10.17749/2077-8333/epi.par.con.2022.119","DOIUrl":"https://doi.org/10.17749/2077-8333/epi.par.con.2022.119","url":null,"abstract":"Background. Juvenile myoclonic epilepsy (JME) is the most common type of idiopathic generalized epilepsy with onset in adolescence and adulthood. During medical genetic counseling in probands with JME, aggravated epilepsy-related heredity is often detected. However, specific genetic variants of JME predisposition remain inconclusive. The use of contemporary methods of genetic analysis, particularly whole-exome and whole-genome sequencing, allows to detect, confirm and strengthen an association of any certain pathological phenotype with one or another pathogenic variant in a number of genes.Objective: to analyze the results of whole exome sequencing in patients with JME and seek for JME associations.Material and methods. The study included 7 patients with established JME diagnosis and 1 proband child without clinical signs of epilepsy. Whole exome sequencing was carried out by using MiSeq (Illumina, USA), bioinformatics analysis was performed on the Genomenal platform (Novel Software Systems, Russia).Results. Heterozygous carriage of pathogenic variants in the genes of recessive diseases was revealed: SACS, AHI1, CEP164, ANO10, RMND1, POMGNT1, FLG, ACTB. The analysis of the identified genetic variants in the patients examined showed no association with the clinical picture of the disease. Heterozygous missense mutations in CLCN2, EFHC1, JRK, ME2 genes and frameshift mutation in the CACNB4 gene were detected. Conclusion. In recent years, significant efforts were made to identify genes which predispose to JME. During our study, monogenic and/or polygenic pathogenic variants in patients with JME and a child of proband with JME were not identified. The high genetic heterogeneity of JME can explain numerous unsuccessful attempts to find genes predisposing to JME. Further research is necessary to confirm variants associated with potential JME. Advances in genomic technology can expand our understanding of the genetics of this pathology.","PeriodicalId":52318,"journal":{"name":"Epilepsy and Paroxysmal Conditions","volume":"10 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81581674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Temporal lobe white matter pathways: clinical and anatomical examination related to surgery of drug-resistant structural focal epilepsy","authors":"A. Sufianov, I. S. Shelyagin, K. Simfukwe, E. S. Markin, S. Stefanov, Yu. A. Yakimov, P. O. Akimova, R. Sufianov","doi":"10.17749/2077-8333/epi.par.con.2022.126","DOIUrl":"https://doi.org/10.17749/2077-8333/epi.par.con.2022.126","url":null,"abstract":"Background. Detected temporal lobe focal cortical dysplasia (FCD) often results in developing drug-resistant epilepsy requiring surgical treatment. In turn, temporal lobectomy, despite its high efficiency, can cause a certain deficit associated with direct or indirect damage to the brain pathways.Objective: to describe the main anatomical features of temporal lobe brain pathways and clinical outcomes of surgical treatment of drug-resistant epilepsy that developed in temporal lobe FCD.Material and methods. A retrospective analysis of the treatment of 14 patients with drug-resistant structural focal epilepsy (temporal lobe FCD) who underwent surgery (anterior temporal lobectomy) was carried out. To localize the epileptogenic zone, specialists of the multidisciplinary group performed a comprehensive presurgical examination in all participants. The surgical material was examined by a neuromorphologist, the diagnosis was verified. In the postoperative period, patients underwent a series of control examinations at standard time points (after 3, 6, 12, 36 months). The minimum follow-up period was 12 months. As a part of the anatomical study, 6 brain hemispheres were investigated prepared for the white matter fibers dissection using Klingler technique. The main pathways that run within or near the temporal lobe were selectively examined: the lower longitudinal, medial longitudinal, lower fronto-occipital and uncinate fasciculi.Results. In the postoperative period, no complications were observed in 14.3% of patients after 4 cm resection of the temporal lobe subdominant hemisphere. Speech disorders (mostly transient) were detected in 35.7% of the subjects, visual field disorders (mainly transient) – in 21.4%, neuropsychiatric disorders – in 43.9%. Overall seizure control: 93% of patients achieved class I according to Engel Epilepsy Surgery Outcome Scale.Conclusion. Anterior temporal lobectomy can be considered as a highly effective method of surgical treatment of drug-resistant structural focal epilepsy with a high rate of achieving control over epileptic seizures in the postoperative period. However, the mandatory conditions for maintaining the quality of life for patients after such a surgical intervention include preoperative analysis of the risk of adverse effects performed by a multidisciplinary team as well as postoperative management and rehabilitation.","PeriodicalId":52318,"journal":{"name":"Epilepsy and Paroxysmal Conditions","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89336021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Indigenous practices for management of epilepsy by traditional healers in South Africa","authors":"Q. Chabangu, M. Maputle, R. T. Lebese, L. Makhado","doi":"10.17749/2077-8333/epi.par.con.2022.121","DOIUrl":"https://doi.org/10.17749/2077-8333/epi.par.con.2022.121","url":null,"abstract":"Objective: to determine the indigenous practices that are used to manage epilepsy in South Africa rural communities.Material and methods. A qualitative, ethnographic technique that was exploratory and descriptive was used. Purposive and snowball sampling were used to select a group of 17 traditional healers for in-depth interviews at their homes. The data were analysed through the open coding data analysis method.Results. The traditional healers had different perspectives on the origins and treatment plans of epilepsy based on their knowledge of the disease and their training. They used plants and alternative measures, even though western medicine was still used. The traditional healers’ status in rural communities was acceptable and their treatment modalities were preferred.Conclusion. Traditional healers and primary health care providers must work collaboratively to educate communities on the importance of integrating biomedicine and indigenous practices, as traditional healers had strong inspirations from the communities.","PeriodicalId":52318,"journal":{"name":"Epilepsy and Paroxysmal Conditions","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88567650","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epilepsy and a woman – a woman has been found!","authors":"V. Karlov","doi":"10.17749/2077-8333/epi.par.con.2022.125.","DOIUrl":"https://doi.org/10.17749/2077-8333/epi.par.con.2022.125.","url":null,"abstract":"Currently, the number of antiepileptic drugs (AEDs) has been growing. While choosing the most optimal AEDs by criteria of their efficacy, tolerability and retention time on therapy, many clinical factors, individual biological characteristics of any certain patient, as well as socio-economic aspects should be taken into account, including those associated with the burden on the health care system. In practice, a doctor is primarily focused on the best clinical result while health care is obliged to take costs into account. Calculating the ratio of benefits and costs associated with pharmacotherapy is not complete without comparing the cost of original and reproduced AEDs. For many, sometimes very weighty, reasons, an idea that the original AEDs are preferable in terms of clinical expectations from their use with a significant economic disadvantage (cost) has been established. In this paradigm, reproduced AEDs are always perceived as a compromise in which an acceptable result can be obtained at moderate cost, which is true for the generalized group of reproduced AEDs. However, there are many examples when AEDs do not differ from the reference agents. In particular, Seizar from the Alkaloid company (Republic of North Macedonia) has been recently in wide use in Russia as an alternative to the original lamotrigine. On October 5–6, 2021, the II International Conference “Epilepsy and Women” was held in Belgrade, wherein the leading experts from Serbia and Russia presented reports on the effectiveness and quality of care for epilepsy at the symposiums “Childhood with Seizar”, “Preparing for adulthood with Seizar”, “Assessment of the benefits and prospects of using Seizar at all stages of women’s life with epilepsy”, “Epilepsy and comorbidity – universal opportunities”. Here, we summarize selected messages presented during the conference.","PeriodicalId":52318,"journal":{"name":"Epilepsy and Paroxysmal Conditions","volume":"61 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88805383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epilepsy syndromes: the 2022 ILAE definition and classification","authors":"D. Blinov","doi":"10.17749/2077-8333/epi.par.con.2022.123","DOIUrl":"https://doi.org/10.17749/2077-8333/epi.par.con.2022.123","url":null,"abstract":"Until recently, no classification of epileptic syndromes officially approved by the International League Against Epilepsy (ILAE) was available. In 2022, owing to many year-persistent efforts made by experts and the public community, the studies providing the definition and classification of epileptic syndromes were published. ILAE has approved the following definition of the epileptic syndrome: “a characteristic cluster of clinical and EEG features, often supported by specific etiological findings (structural, genetic, metabolic, immune, and infectious)”. The classification of epileptic syndromes is proposed according to the age principle: onset in neonates and infants, onset in childhood, onset at a variable age. Separately, the syndromes of idiopathic generalized epilepsy were presented. Clinical data for each epileptic syndrome are presented in a single pattern: epidemiology, clinical context, natural history, type(s) of seizures, electroencephalography, neuroimaging findings, genetic findings, other laboratory findings (when informative), differential diagnosis. The criteria for diagnosis, including mandatory criteria, warning signs and exclusion criteria, are given. This classification should be a starting point for further improvement in the organizing work of practitioners who deal with epilepsy.","PeriodicalId":52318,"journal":{"name":"Epilepsy and Paroxysmal Conditions","volume":"57 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81042561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical case of distal arthrogryposis in combination with epilepsy due to an unbalanced translocation","authors":"T. Kozhanova, S. S. Zhilina, T. I. Meshсheryakova, N. Prokopyeva, A. G. Prityko, N. Zavadenko","doi":"10.17749/2077-8333/epi.par.con.2022.112","DOIUrl":"https://doi.org/10.17749/2077-8333/epi.par.con.2022.112","url":null,"abstract":"","PeriodicalId":52318,"journal":{"name":"Epilepsy and Paroxysmal Conditions","volume":"48 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79174337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Stereoelectroencephalography in pre-surgical evaluation of patients with drug-resistant focal epilepsy","authors":"A. Balatskaya, N. Pedyash, A. Golovteev, N. A. Kalybaeva, N. Utyashev, M. A. Odeniyazova, O. Bronov, A. Zuev","doi":"10.17749/2077-8333/epi.par.con.2022.090","DOIUrl":"https://doi.org/10.17749/2077-8333/epi.par.con.2022.090","url":null,"abstract":"","PeriodicalId":52318,"journal":{"name":"Epilepsy and Paroxysmal Conditions","volume":"420 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76481497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Surgical treatment of MRI-negative drug resistant epilepsy in children","authors":"M. R. Mamatkhanov, V. V. Ushanov, A. P. Gerasimov, W. Khachatryan","doi":"10.17749/2077-8333/epi.par.con.2022.110","DOIUrl":"https://doi.org/10.17749/2077-8333/epi.par.con.2022.110","url":null,"abstract":"","PeriodicalId":52318,"journal":{"name":"Epilepsy and Paroxysmal Conditions","volume":"12 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78651057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of glutamine synthetase expression and cystine/glutamate transporter (SLC7A11, xCT) in epilepsy pathogenesis of patients with supratentorial brain gliomas","authors":"M. Prokudin, B. Martynov, A. I. Yakovenko, I. Litvinenko, V. Lobzin, D. V. Svistov, V. Chirskiy, K. Chemodakova, O. Klitsenko","doi":"10.17749/2077-8333/epi.par.con.2022.118","DOIUrl":"https://doi.org/10.17749/2077-8333/epi.par.con.2022.118","url":null,"abstract":"","PeriodicalId":52318,"journal":{"name":"Epilepsy and Paroxysmal Conditions","volume":"23 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81872022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurological disorders after hysterectomy: from pathogenesis to clinical manifestations","authors":"A. Solopova, D. Blinov, E. Begovich, L. Sandzhieva, S. V. Demyanov, G. V. Demyanov","doi":"10.17749/2077-8333/epi.par.con.2022.115","DOIUrl":"https://doi.org/10.17749/2077-8333/epi.par.con.2022.115","url":null,"abstract":"Hysterectomy currently occupies one of the leading places among obstetric and gynecological surgeries and is one of the highly effective and sometimes the only method of treating various diseases of the female genital organs.  Quite often, however, hysterectomy results not only in the elimination of the cause of disease, but also in the development of complications that reduce the quality of life of patients. More and more attention is being paid to neurological complications, which is obviously due to improved diagnostic capabilities, as well as the results of recent research on the pathogenesis and treatment of neurological disorders. Only recently the scientists have begun to think about the true causes  of one of the most important neurologic complications of hysterectomy, namely chronic postoperative pain.The review describes in detail the main neurological disorders that develop after hysterectomy: chronic postoperative pain, traumatic neuroma, residual ovarian syndrome  as possible causes of chronic pain, mononeuropathies, sexual and sleep disorders, decreased cognitive and motor functions, lower  urinary tract and bowel dysfunction.  Considerable  attention is given to the mechanisms of neurological complications and the relationship between the surgery and emotional disturbances in women.","PeriodicalId":52318,"journal":{"name":"Epilepsy and Paroxysmal Conditions","volume":"46 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79611458","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}