Journal of Epileptology最新文献

{"title":"Pharmacoresistant epilepsy associated with mutations in the KCNB1 and RELN genes. A case report","authors":"Adamantios Katerelos, Nikolaos Zagkos, Dimitra K. Alexopoulou, S. Mouskou, A. Korona, E. Manolakos","doi":"10.21307/jepil-2020-006","DOIUrl":"https://doi.org/10.21307/jepil-2020-006","url":null,"abstract":"SUMMARY Introduction. Epilepsy is one of the most common neurological disorders worldwide. In most cases, epilepsy can be well managed. However, there is a number of patients who do not respond well enough to common medical treatments; a situation known as pharmacoresistant epilepsy. It can be caused by mechanisms that may involve environmental and genetic factors, as well as disease or drug related factors. Case presentation. Herein we present a case report of a six-year-old girl who has been diagnosed with pharmacoresistant epilepsy, characterized by generalized and focal seizures while she was on two antiepileptic drugs. Molecular testing, with Next Generation Sequencing (NGS) technique, revealed mutations at KCNB1 and RELN genes.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"15 1","pages":"73 - 77"},"PeriodicalIF":0.0,"publicationDate":"2020-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82680608","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":"A position paper on breastfeeding by women with epilepsy – working group report","authors":"J. Jȩdrzejczak, M. Wilińska, E. Kamińska, R. Lauterbach, E. Helwich, T. Jackowska, E. Nagańska, Natalia Jacyna, B. Majkowska-Zwolińska","doi":"10.21307/jepil-2020-005","DOIUrl":"https://doi.org/10.21307/jepil-2020-005","url":null,"abstract":"SUMMARY Introduction. On the initiative of the General Board of the Polish Society of Epileptology a Working Group was established to develop an expert position on breastfeeding by women with epilepsy in Poland. Aim. To facilitate a unified and rational approach to breastfeeding for women with epilepsy. Methods. An ad hoc system was developed to classify available published evidence and expert opinions, which was used to evaluate recommendations on various aspects related to counselling, risk and safety of breastfeeding. Discussion and conclusions. This position paper provides an educational, practical and organizational aspects. It will allow for the introduction of a uniform protocol of conduct in Poland, which in turn will improve the safety of the mother and her child.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"9 1","pages":"7 - 25"},"PeriodicalIF":0.0,"publicationDate":"2020-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75183882","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":"Treatment with lacosamide or levetiracetam in patients with renal replacement therapy. What is really known?","authors":"M. Cuhls, J. Bösel, J. Rösche","doi":"10.21307/jepil-2020-004","DOIUrl":"https://doi.org/10.21307/jepil-2020-004","url":null,"abstract":"SUMMARY Background Lacosamide and levetiracetam are commonly used in critically ill patients, who need an antiepileptic treatment in addition to several other medications. Since both drugs are eliminated via the kidneys, dosage has to be adapted to renal function especially in renal replacement therapy (RRT). In 2016 recommendations of dosage in this condition were based on three case reports only. Aim To elucidate the current data basis for recommendations on the dosage of Lacosamide and levetiracetam in patients on renal replacement therapy. Material and methods A search in MEDLINE and Web of Science with several core terms was performed. Papers reporting on doses and concentrations of lacosamide or levetiracetam in patients with renal replacement therapy were analysed. Results and discussion One phase-I study and three case reports concerning lacosamide and one case series with 22 patients and nine case reports concerning levetiracetam were identified. Whether 200 mg Lacosamide twice/day results in trough concentrations at least in the lower therapeutic range depends on the replacement rate used in continuous venovenous haemofiltration. Peritoneal dialysis seems to remove only a small portion of levetiracetam. Levetiracetam (1000 mg) every 12 hours may generate a trough concentration in the lower therapeutic range in continuous venovenous haemofiltration. Conclusion Due to the sparse and low quality data, current recommendations on dosing lacosamide or levetiracetam in patients undergoing renal replacement therapy have to be considered with caution and therapeutic drug monitoring may be useful in guiding patient management.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"22 1","pages":"55 - 58"},"PeriodicalIF":0.0,"publicationDate":"2020-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77177705","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":"Attitudes of professionally active adults towards patients with epilepsy. Pilot study","authors":"D. Talarska, Patrycja Talarska, M. Szewczyczak, M. Strugała, Kinga Siwek, J. Siwek, Dorota Ryszewska-Łabędzka","doi":"10.21307/JEPIL-2020-008","DOIUrl":"https://doi.org/10.21307/JEPIL-2020-008","url":null,"abstract":"SUMMARY Background. Attitudes are formed throughout the course of our lives, and they result from our knowledge, experience or belonging to a particular group of people. Stereotypes, prejudice, or discrimination are often the consequence of uncritical copying the behaviour of others and the lack of knowledge. Aim. The aim of the study was to answer the following question: What attitudes towards patients with epilepsy are declared by adults undertaking professional activity? Materials and Methods. Included in the study were professionally active persons aged between 35 and 60 years. The research tool was our own questionnaire. The questions referred to the three components of the attitude: knowledge, emotions, behaviours. Results. The study group comprised 58 (58.59%) women and 41 (41.41%) men. The average age was 46.3 ± 10.2 years. Most respondents completed full tertiary education (n = 68, 68.69%). The average score obtained by the studied group from the entire questionnaire was 20.3 out of 27 points, which suggests that the investigated group represented positive attitudes. The highest score was obtained by the respondents in the affective component of attitudes, whereas the lowest was recorded in the behavioural component. Conclusion. Majority of people participating in the study showed a positive attitude. In the study group, the most difficult questions were those about first aid and direct relations with the patients. Women, respondents with higher education, single and those who do intellectual work have a better perception of people suffering from epilepsy. White-collar workers and women would be more willing to employ and collaborate with a person with epilepsy.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"7 1","pages":"27 - 33"},"PeriodicalIF":0.0,"publicationDate":"2020-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87113511","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":"A brief update on psychogenic non-epileptic seizures: a challenge to overcome","authors":"M. Beghi, C. Cornaggia, E. Beghi","doi":"10.21307/jepil-2020-003","DOIUrl":"https://doi.org/10.21307/jepil-2020-003","url":null,"abstract":"SUMMARY Psychogenic Non-Epileptic Seizures (PNES) are defined by their semiological resemblance to Epileptic Seizures (ES), not associated with specific epileptic discharges in an ictal EEG. PNES are, in fact, a feature of an underlying psychiatric disorder even if these patients are currently in the realm of epileptologists and for these reasons there is a large degree of confusion underlying the diagnosis (with an average delay of 3 years) and management of PNES. Documented PNES diagnosis would require the attack captured on video EEG (vEEG), but often it is not possible. The video registration of a seizure seen by an expert would make PNES “probable”. Conversational analysis has been demonstrated to be a very useful tool in the differential diagnosis between PNES and ES with a good rate of reliability. From a psychological point of view, PNES could be the same phenotype of different underlying mechanisms and, also for this reason, should consider these underlying processes and treatment could be sometimes seriously deficient. Many psychological approaches are anecdotally reported, but controlled studies are still lacking, and interventions still rely on clinicians’ experience. Moreover, pharmacological treatment may be recommended in adults or elderly with concomitant anxiety or depression. In conclusion, many symptoms and signs are valid but none is pathognomonic, the symptoms should be reported correctly and psychiatrists should be necessarily involved for the correct diagnosis and management of PNES.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"55 1","pages":"67 - 72"},"PeriodicalIF":0.0,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73906512","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":"Pharmacological and non-pharmacological approaches to life threatening conditions in epilepsy","authors":"B. Błaszczyk, Aleksandra Walczak, Natalia Ścirka, A. Konarzewska, Barbara Miziak, S. Czuczwar","doi":"10.21307/jepil-2020-002","DOIUrl":"https://doi.org/10.21307/jepil-2020-002","url":null,"abstract":"SUMMARY Background A higher degree of mortality may be attributed to patients with epilepsy. There are several main reasons responsible – sudden unexpected death in epilepsy (SUDEP), status epilepticus (SE) and central nervous system damage. Also, epilepsy associated accidents and suicidal attempts have to be highlighted. Aim Epidemiology and therapeutic or preventive (pharmacological or non-pharmacological strategies) of the conditions increasing mortality have been reviewed so as to minimize the mortality rate in patients with epilepsy. Discussion and Conclusions Generally, the treatment of convulsive SE entails the need to achieve rapid stabilization of a patient and an appropriate choice of antiepileptic drugs (AEDs) so as to stop seizure activity. In the event of no response the treatment has to be continued under general anaesthesia. For minimizing the risk of SUDEP in young adults or patients with childhood epilepsy, adequate treatments with AEDs must be initiated or possible surgery considered. Patients with uncontrolled epilepsy require AED optimization. Although a possible link between taking AEDs and increased suicidality is questionable, patients with epilepsy are advised to be evaluated for possible symptoms of depression or anxiety. Surgical treatment of epilepsy may increase the risk of depression development, so a careful psychiatric examination is recommended prior to surgery.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"85 1","pages":"43 - 54"},"PeriodicalIF":0.0,"publicationDate":"2020-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81220900","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":"In memoriam","authors":"B. Majkowska-Zwolińska, J. Jȩdrzejczak","doi":"10.21307/joepi-2019-007","DOIUrl":"https://doi.org/10.21307/joepi-2019-007","url":null,"abstract":"","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"13 1","pages":"7 - 8"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75564053","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":"Glucose transporter type 1 deficiency syndrome (GLUT1-DS) – delayed diagnosis and treatment. A case report","authors":"Piotr Bogucki, E. Nagańska, M. Jurek, D. Hoffman-Zacharska, A. Kutkowska-Kaźmierczak, E. Obersztyn, U. Fiszer","doi":"10.21307/jepil-2019-006","DOIUrl":"https://doi.org/10.21307/jepil-2019-006","url":null,"abstract":"SUMMARY Background. Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a treatable metabolic disorder caused by mutation in the SLC2A1 gene. The functional deficiency of the GLUT1 protein leads to impaired glucose transport into the brain, resulting in a spectrum of neurological phenotypes. The most severe classic phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor coordination disturbances, and spasticity. The less severe clinical features, such as paroxysmal exercise-induced dystonia with or without epileptic seizures, are also observed. Aim. Hypothesis, that one possible treatment option entails intrathecal injection of glucose. Material and Methods. We describe a woman, who was diagnosed as having epilepsy and treated for years with different antiepileptic drugs with no clinical effect. She had only two generalized tonic clonic seizures in her life. The patient suffered from increasing frequency of the paroxysmal involuntary movements of lower limbs, leading to gait disturbances and falls, which were misdiagnosed as epileptic seizures. The jerks of the head and limbs were observed from the first months of her life. The symptoms were provoked by stress and exertion. Additionally, mild intellectual disability was noted during her growth. Results. Glucose concentrations in cerebrospinal fluid were low. The SLC2A1 gene analysis resulted in the identification of a heterozygous missense mutation p.Arg333Trp. identification. The diagnosis of GLUT1-DS was confirmed. Conclusion. Delayed diagnosis resulted in many problems with the acceptance of the ketogenic diet, which is considered the treatment of choice in GLUT1 deficiency syndromes. To our knowledge, this is the first case report of GLUT1-DS diagnosis occurring in adulthood and published in Poland.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"55 1","pages":"49 - 54"},"PeriodicalIF":0.0,"publicationDate":"2019-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79650371","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 influence of clinical and immune variables on psychopathological syndromes in partial epilepsies in relation to handedness","authors":"V. Kalinin, E. Zheleznova, K. Y. Subbotin, N. Yermakova, A. Zemlyanaya, L. Sokolova","doi":"10.21307/jepil-2019-005","DOIUrl":"https://doi.org/10.21307/jepil-2019-005","url":null,"abstract":"SUMMARY Background. The role of neurobiological and immunity variables in the genesis of psychopathological syndromes in patients with partial epilepsy is not properly understood. It concerns also the role of handedness. Aim The study was carried out in order to find the influence of clinical (neurobiological) and immune variables on co-morbid psychopathological syndromes in patients with epilepsy separately for right-handers and left-handers. Material and Methods. Ninety two (92) patients with epilepsy were recruited into the study. Among the studied patients were 85 right-handers and 7 left-handers. The data on frequency of each seizure semiotics, the assessment of seizures severity and the length of remission were used as main basic clinical variables. Assessment of psychopathological status of patients has been performed by using of Symptom Check List-90 (SCL-90). The amounts of different lymphocytes clusters also were calculated. The product moment correlation analysis was used to find the possible relationships separately for right-handers and left-handers. Results. In the right-handers group only significant correlation between the focal motor seizure frequency and value of Hostility construct of SCL-90 scale (r = 0.284, p = 0.045), and between the total count of T-lymphocytes and expression of Psychoticism, SCL-90 (r =−0.271, p = 0.049). In the left-handers group stochastically significant correlations between focal seizures with impaired awareness (FSIA), focal to bilateral tonic-clonic seizures (FBTCS) and National Hospital Seizure Severity Scale (NHS3) score with 5 SCL-90 constructs were revealed. The regulatory index (CD4/CD8 ratio) correlates positively with Obsessions (r = 0.780, p = 0.039); Interpersonal sensitivity (r = 0.80, p = 0.031); Depression (r = 0.834, p = 0.02); Aggression (r = 0.926, p = 0.003); Paranoid ideations (r = 0.873, p = 0.01) and Psychoticism (r = 0.913, p = 0.004). Conclusion. Neurobiological and immune variables determine the psychopathological constructs strictly in left-handers.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"1 1","pages":"17 - 25"},"PeriodicalIF":0.0,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83029855","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":"Cannabinoids in the treatment of epilepsy – an updated review","authors":"Marcin Kopka","doi":"10.21307/jepil-2019-004","DOIUrl":"https://doi.org/10.21307/jepil-2019-004","url":null,"abstract":"SUMMARY Introduction It is estimated that 30% of people with epilepsy continue to have seizures despite treatment. The approval of many new antiseizure drugs during the past two decades has not substantially reduced the proportion of patients with medically refractory disease. Patients need new treatments. Many families choose to try alternative therapy options. An abundance of preclinical evidence and anecdotal human data support the use of cannabinoids in the treatment of epilepsy. Aim. The present review paper aims to present the current state of knowledge regarding the effectiveness and safety of cannabinoids in the treatment of epilepsy. Material and methods This review covers the most relevant and recent papers identified using the Pub-Med database. Results and discussion Cannabidiol has shown anticonvulsant activity in many acute animal models of seizures. Recently three well controlled randomized trails focused on the potential usefulness of cannabinoids in the treatment of epilepsy have been published. Based on these publications, the US Food and Drug Administration approved in 2018 a purified, plant-derived cannabinoid for the treatment of seizures in patients with Dravet syndrome and Lennox-Gastaut syndrome. Conclusion. An abundance of preclinical evidence and anecdotal human data support the use of cannabinoids in the treatment of epilepsy. Recently purified, plant-derived cannabinoid was approved for the treatment of seizures in patients with Dravet syndrome and Lennox-Gastaut. Additional data are needed to determine the long-term efficacy and safety of cannabidiol for severe epilepsy syndromes","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"2 1","pages":"35 - 42"},"PeriodicalIF":0.0,"publicationDate":"2019-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86959615","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}