Journal of Epileptology最新文献

{"title":"Factors related to possible autoimmune etiology in patients with drug-resistant epilepsy","authors":"Magdalena Kowalska, E. Nagańska, Urszula Fiszer","doi":"10.2478/joepi-2023-0001","DOIUrl":"https://doi.org/10.2478/joepi-2023-0001","url":null,"abstract":"SUMMARY Background Between 14% and 20% of cases of drug-resistant epilepsy may be attributed to an impaired cellular or humoral immune response. Aim Our study aimed to assess disorders of the immune response of the humoral or cellular type and their impact on the course of the disease, factors suggesting the diagnosis of an autoimmune etiology. We wanted to analyse these factors, looking for correlations with a history of status epilepticus. Materials and methods This study prospectively analysed 30 patients who were diagnosed with drug-resistant epilepsy. The patients were divided into two groups: those who had previously experienced status epilepticus and those who had not. The study collected and analysed detailed information about the patient’s medical history, routine blood laboratory tests, albumin and immunoglobulin (IgG) levels, neuropsychological evaluations, electroencephalography tests (EEG), general cerebrospinal fluid (CSF) examinations, tests for the presence of oligoclonal bands, IgG index determination, MRZ-reaction (MRZR), chitotriosidase activity, and the presence of anti-herpes type 1 (anti-HSV-1) antibodies and neural autoantibodies. Each patient underwent magnetic resonance imaging (MRI) of the head with intravenous contrast administration using the epileptic protocol. Results There was no statistically significant difference in age, gender, onset and disease duration up to the time of our study. None of the patients showed the presence of the tested antibodies against neuronal surface antigens and oligoclonal bands in the CSF. Conclusion Lack of antibodies against neuronal antigens does not necessarily rule out autoimmune epilepsy. The exact diagnostic criteria are still a subject of debate. A history of SE increases the risk of autoimmune epilepsy.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"21 1","pages":"3 - 10"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139298955","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":"Cenobamate in the management of focal-onset epilepsy in adults – practical considerations for daily practice","authors":"B. Majkowska-Zwolińska","doi":"10.2478/joepi-2023-0002","DOIUrl":"https://doi.org/10.2478/joepi-2023-0002","url":null,"abstract":"SUMMARY Introduction Cenobamate (CNB) is a newly approved antiseizure medication in Europe. It is used as an add-on treatment for focal-onset seizures in adult patients with epilepsy that is not responding to other medications. Aim This report discusses the practical aspects of using cenobamate to treat adult patients with epilepsy based on current experiences. Discussion and conclusions Studies have shown that cenobamate is effective in reducing seizure frequency in adult patients with drug-resistant focal onset epilepsy when used as add-on therapy. It also has a high seizure freedom rate, a good treatment retention rate, and a favorable safety profile. The aspects discussed include using cenobamate in special populations and potential interactions with other drugs, management strategies to mitigate the risk of adverse reactions illustrated by a specific clinical case. Further studies involving larger patient groups are necessary to assess the drug’s efficacy and safety profile, particularly in special populations and patients with other types of epileptic seizures.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"41 1","pages":"11 - 19"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139299396","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":"How can we distinguish postictal Todd’s Paralysis from acute ischemic stroke in the prehospital and early hospital setting?","authors":"Natasza Blek","doi":"10.2478/joepi-2022-0002","DOIUrl":"https://doi.org/10.2478/joepi-2022-0002","url":null,"abstract":"Summary Introduction Acute Ischemic Stroke (AIS) is a medical emergency with focal neurological deficits. Todd’s paralysis (TP) is defined as a transient loss of motor ability and weakness that lasts hours to days and typically occurs after a focal seizure. Given the high prevalence of stroke and the rising availability of reperfusion therapies, timely detection of eligible patients is critical. Pre- and early-hospital differential diagnosis of various conditions with comparable clinical presentations is still difficult. Aim This review discusses Todd’s post-epileptic paralysis, one of the most common stroke mimics (SM), in pre- and early-hospital settings. Discussion and Conclusions The review covers the most critical findings on the TP and its emergency care as a common stroke mimic. Because TP is an excluding diagnosis, the most severe and curable illnesses must be recognised. Since thrombolysis is safe in SM, delaying or withholding medication may be improper when the advantages of treating a stroke mimic outweigh the dangers of treating a stroke mimic.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"159 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74319460","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 patient with Beta-Propeller Protein-Associated Neurodegeneration: a new missense mutation of the WDR45 gene","authors":"A. Ivanova, S. Kulikova, L. Sivitskaya, N. Danilenko, O. Davydenko","doi":"10.2478/joepi-2022-0001","DOIUrl":"https://doi.org/10.2478/joepi-2022-0001","url":null,"abstract":"Summary Introduction Beta-propeller protein-associated neurodegeneration (BPAN) is a neurodegenerative disorder; its estimated prevalence is 2 to 3 per million individuals. All published cases of BPAN have been sporadic, with a clear female predominance and mutations in various exons of the WDR45 gene. Case presentation The study aimed to confirm the diagnosis of BPAN in a 9-year-old girl with a developmental delay since early childhood complicated with intellectual disability, lack of speech and febrile and non-febrile tonic-clonic seizures. The patient also had autistic symptoms as well as some Rett-like symptoms: stereotypical movements of the hands–twisting objects, putting hands in the mouth. Discussion Clinical exome analysis and Sanger sequencing of the proband have been performed to confirm the diagnosis. The novel heterozygous missense mutation c.755T>C of the WDR45 «autophagy» gene was revealed. Sanger sequencing of the trio (proband and parents) proved the de novo nature of mutation; its clinical significance has been defined as probably pathogenic. Thus, we report a new missense variant of the WDR45 gene in a girl with a clinical picture of BPAN. The use of NGS made it possible to get a correct diagnosis during rather a short period before the second debilitating phase of the disease started so that the physicians and the family would have time to prepare and hopefully choose the way to resist.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"30 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81028904","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":"Succinic semialdehyde dehydrogenase deficiency (SSADH-D) in an eleven-month-old infant with marked hypotonia and staring episodes: a case report","authors":"S. Mouskou, Katerina Anagnostopoulou, Danae Bikouli, E. Paramera, E. Papakonstantinou, A. Korona, Vasiliki Ziaka, Mirsini Mavrikou, A. Skouma","doi":"10.2478/joepi-2022-0003","DOIUrl":"https://doi.org/10.2478/joepi-2022-0003","url":null,"abstract":"Summary Introduction Succinic semialdehyde dehydrogenase deficiency (SSADH), also known as 4-hydroxybutyric aciduria (OMIM #271980, 610045), is an ultra-rare neurometabolic disorder inherited in an autosomal recessive pattern. It is usually characterised by a relatively nonprogressive encephalopathy in the first two years of life with hypotonia and developmental delay, associated with mild ataxia and hyporeflexia, as well as delays in language and speech development. Case report We report on a case of a four-year-old girl with SSADH deficiency who presented, at the age of 11 months old, with marked hypotonia, global neurodevelopmental delay and epilepsy. The diagnosis of “Succinic semialdehyde dehydrogenase deficiency” was indicated as there was a marked elevation of the levels of 4-hydroxy-butyric and 3,4-dihydroxybutyric acid caused by mutation at the gene ALDH5A1 in the homozygous state, identified with WES technique. Currently, she is four years old and has a severe global psychomotor delay, excessive hypotonia, hyperextensibility, and ataxia and is free of seizures. Conclusion At the early stage of clinical presentation, the condition is difficult to differentiate from other encephalopathies. This case report suggests that analysis of urinary organic acids should be performed in all patients at risk to allow early diagnosis. DNA analysis with the WES technique can confirm the diagnosis.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"36 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75511776","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 knowledge, attitudes, behaviors, and associated factors among primary, post-primary, and secondary school teachers in Ouagadougou (Burkina Faso)","authors":"A. A. Dabilgou, A. Dravé, J. Kyelem, Naobar Meda, C. Napon, K. Karfo, J. Kaboré","doi":"10.21307/jepil-2021-003","DOIUrl":"https://doi.org/10.21307/jepil-2021-003","url":null,"abstract":"SUMMARY Background. Epilepsy is one of the most common pediatric neurological disorders. The knowledge and attitude of teachers toward epileptic students can be crucial. Patients and methods. This cross-sectional study was carried on schoolteachers in the city of Ouagadougou during the period from March 02 to July 20, 2020. The schools were chosen randomly among a list of recognized public or private establishments. Results. Two hundred and twenty teachers were included in the study. Among them, 35.45% were post-primary teachers. Most of them had already heard of epilepsy (98.6%). For the majority of school teachers, epilepsy was not a contagious disease (74%). Regarding the causes of epilepsy, the majority of participants had listed brain disease (65%) and genetic disorders (18.20%). The majority of schoolteachers (70.9%) believed that students with epilepsy usually had associated mental retardation. For the majority of teachers (73.20%), epilepsy was a stigmatizing disease, and students with epilepsy should benefit from personalized supervision (65%). The majority of schoolteachers (75.9%) had a good knowledge of epilepsy, and 43.6% had good attitudes toward epilepsy. The factor associated with teachers’ knowledge was having witnessed an epileptic seizure (p < 0.05). The factors related to schoolteacher practice was gender (p < 0.05) and having already witnessed an epileptic seizure (p < 0.05) Conclusion. Our study found that teachers had a good knowledge of epilepsy, but attitudes and practices were inadequate.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"31 1","pages":"33 - 43"},"PeriodicalIF":0.0,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75622363","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 autism: How does age at seizure onset factor in?","authors":"C. Braun, Jonathan Elie-Fortier","doi":"10.21307/jepil-2021-002","DOIUrl":"https://doi.org/10.21307/jepil-2021-002","url":null,"abstract":"SUMMARY Introduction. Three neuropathological conditions and two neurosurgical situations have been reported to present significantly earlier seizure onset in cases with autism than without. These are tuberous sclerosis, Angelman syndrome, the PCDH19 mutation, vagal nerve stimulation and epilepsy surgery. Method. We reviewed the case-report literature to determine the extension of this autism-specific early seizure onset effect across all relevant neuropathological conditions. Published clinical cases were collected fulfilling two inclusion criteria: age at seizure onset stated and presence (N = 1885 cases) or absence (N=4907 cases) of autism. We also documented the type and tractability/intractability of the epilepsy, genetic abnormality, neurologic syndrome, structural brain imaging findings and presence of intellectual disability when available. Results. Cases with autism presented significantly earlier seizure onset than cases without autism in 38 neuropathological conditions out of 162, including the previously established five. These 38 neuropathological conditions typically involved intractable epilepsy caused by focal cortical dysplasia located in the social brain, with the ictal or interictal electrical focus also located in the social brain. Within these 38 neuropathological conditions, in the cases with autism, the median seizure onset occurred between 50 days and 24 months after birth. Conclusion. Onset of severe seizure disorder during an early critical post-natal interval, caused by brain damage specifically located in the social brain, strongly associates with subsequent autism.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"142 1","pages":"13 - 31"},"PeriodicalIF":0.0,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77454627","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":"Levetiracetam as second-line treatment of status epilepticus – which dose should be applied?","authors":"J. Rösche, Bernd Schade","doi":"10.21307/jepil-2021-001","DOIUrl":"https://doi.org/10.21307/jepil-2021-001","url":null,"abstract":"SUMMARY Introduction Since 2004 many treatment episodes in different stages of status epilepticus (SE) have been reported. Nowadays the use of levetiracetam (LEV) is recommended as a second-line treatment of SE, when the use of a benzodiazepine was not successful. Aim The evidence based on randomized controlled trials for the application of a particular weight-based dose of LEV as a second-line treatment in benzodiazepine refractory SE is investigated. Methods Pubmedsearches were undertaken using the terms “Levetiracetam-status-epilepticus-trials” and “Levetiracetam-status-randomized” on May 8th 2021. We identified 17 studies reporting treatment with LEV as second line treatment and reporting dosages in mg/kg body weight. We grouped the studies according to the reported dosages (i.e. 20–25 mg/kg; 30 mg/kg; 40 mg/kg, 60 mg/kg). For each group we calculated the mean efficacy rate and the standard deviation of the efficacy rate weighted for the number of cases in the different studies. Twelve studies compared LEV with 20 mg/kg phenytoin (PHT). In these studies, we analysed the relative efficacy rate in comparison to PHT with the same procedure. Results Seven studies used LEV 20–25 mg/kg, two studies 30 mg/kg, six studies 40 mg/kg and one study 60 mg/kg. Efficacy rate was highest in the group given 30 mg/kg (95% CI 87.5–90.1%). The relative efficacy rate with this weight-based dose was 1.12. This is just above the upper range of the 95% CI of the relative efficacy rate in studies using 40 mg/kg LEV (i.e. 1.11). The relative efficacy rates in the two other groups were considerably lower. Conclusion According to the randomized controlled trials published so far a weight-based dose of 30–40 mg/kg LEV may be appropriate for the treatment of benzodiazepine-refractory SE.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"1 1","pages":"7 - 12"},"PeriodicalIF":0.0,"publicationDate":"2021-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78504455","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 characteristics of forced normalization and alternative psychosis with special consideration of the new anticonvulsants","authors":"W. Fröscher, V. Faust, T. Steinert","doi":"10.21307/jepil-2020-001","DOIUrl":"https://doi.org/10.21307/jepil-2020-001","url":null,"abstract":"SUMMARY Background In the case of an alternative psychosis (AP) or forced normalization (FN), the patient alternates between periods of clinically manifest seizures and normal behavior, and other periods of seizure freedom or significant seizure reduction accompanied by psychosis or behavioral disturbances. In clinical practice and in the literature, the terms AP and FN are mostly used synonymously despite small differences. FN of the EEG is not only common to interictal mental disturbances but may also occur in the case of pre-ictal and postictal mental disturbances. Aim To update the 2007 review on “Alternative Psychoses of Epilepsy” in this journal with special consideration of the new anticonvulsants. Material and Methods We conducted a literature research from 1987 (in this year a psychosis, triggered by the first “new “anticonvulsant vigabatrin in a patient with epilepsy was reported for the first time) up to September 2019. Discussion AP/FN are rare events; only 10% of epileptic psychosis are AP/FN. AP/FN respectively occur with both generalized and focal epilepsy; in recent years, patients with focal epilepsy predominate. AP/FN generally present with behavioral disturbances of acute or subacute onset associated with thought disorder, delusions, hallucinations, significant mood change, or anxiety with depersonalization and derealization symptoms. The reports on EEG findings in patients with AP are inconsistent. In the case of FN, the EEG is by definition normal or substantially improved. The most prominent risk factor for the development of an AP/FN is the anticonvulsant medication. The following anticonvulsants have not been observed until now as triggers of an AP/FN in the literature reviewed by us: Acetazolamide and sulthiame (“old” anticonvulsants) and the “new” anticonvulsants brivaracetam, eslicarbazepine, pregabalin, retigabine, rufinamide, stiripentol. The treatment is based on 3 strategies: Reduction or complete cessation of anticonvulsants, change of anticonvulsants and administration of antipsychotic drugs. Conclusion The risk of an AP/FN is probably different for the individual dugs. At the current level of experience, gabapentin, pregabalin, oxcarbazepine or eslicarbazepine can be the first alternative if an AP/FN was triggered by another anticonvulsant in a patient with focal epilepsy. In generalized epilepsy, especially in patients with absences, valproic acid remains the first alternative.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"13 1","pages":"35 - 41"},"PeriodicalIF":0.0,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79589883","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":"mHealth tools in the management of epilepsy","authors":"Natasza Blek, P. Zwolinski","doi":"10.21307/jepil-2020-007","DOIUrl":"https://doi.org/10.21307/jepil-2020-007","url":null,"abstract":"SUMMARY Introduction. Epilepsy is a persistent neurological condition characterized by frequent seizures that are not triggered by an environmental or reversible stimulus. Although not yet widely used, mobile health (mHealth) innovations have enhanced epilepsy care and prevention and are expected to play an increasing role in the ownership of smartphones, wearable devices and innovation in medical technology. Aim. The present review paper aims to summarize the current state of knowledge regarding the use of mHealth tools in epilepsy management. Discussion and Conclusions. In this paper, we review available mHealth tools that influence key epilepsy management elements. These components include patient education, self-management directly affecting seizure control, diagnosis and therapy, and managing medical data. mHealth solutions are a promising approach to epilepsy self-management; further work is needed to explore their effectiveness.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"76 1","pages":"59 - 65"},"PeriodicalIF":0.0,"publicationDate":"2020-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86657487","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}