Journal of Epileptology最新文献

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Russian experience of using perampanel in daily clinical practice. Preliminary report 俄罗斯在日常临床实践中使用perampanel的经验。初步报告
Journal of Epileptology Pub Date : 2016-01-25 DOI: 10.1515/JOEPI-2016-0007
P. Vlasov, V. Karlov, I. Zhidkova, A. Chervyakov, O. Belyaev, I. Volkov, D. Dmitrenko, A. Karas, T. Kazennykh, O. Miguskina, A. Moskvicheva, E. Paramonova, I. Ponomareva
{"title":"Russian experience of using perampanel in daily clinical practice. Preliminary report","authors":"P. Vlasov, V. Karlov, I. Zhidkova, A. Chervyakov, O. Belyaev, I. Volkov, D. Dmitrenko, A. Karas, T. Kazennykh, O. Miguskina, A. Moskvicheva, E. Paramonova, I. Ponomareva","doi":"10.1515/JOEPI-2016-0007","DOIUrl":"https://doi.org/10.1515/JOEPI-2016-0007","url":null,"abstract":"Summary Introduction Perampanel (PER) (Fycompa) 5’-(2-cyanophenyl)-1’-phenyl-2,3’-bipyridinyl-6’(1’H)-on is the newest antiepileptic drug and is the first-in-class selective non-competitive antagonist of ionotropic AMPA glutamate receptors of the postsynaptic neuronal membrane. The aim was to summarize Russian experience in using PER in daily clinical practice, and for this purpose the results of its use as an add-on treatment for focal epilepsy were assessed retrospectively Material and Method The results of the study of PER efficacy and safety in 52 patients with refractory focal epilepsy are presented. Mean age was 28.9 ± 14.0 years; proportion of male patients was 56%, duration of the disease over 10 years - 69.2%, symptomatic epilepsy - 76.9%, with frontal - 46.2% and temporal - 44.2% localization of epileptic lesion. Majority of patients - 71.2% started PER treatment after 3 preceding lines of therapy Results The baseline seizure frequency of all types was 127.3 ± 82.3 per month; secondary generalized seizures - 6.7 ± 1.9 per month. After PER was added, a significant decrease in seizure frequency was observedalready during the first month, to 52.1 ± 29.3 seizures per month (Sign test, p = 0.00001) for seizures of all types and to 3.7 ± 1.7 (Sign test, p = 0.00001) for secondary generalized seizures. In an overwhelming majority of cases, duration of PER treatment was more than 6 months. In 58% of patients, seizure frequency decreased by more than 50% (responders). Seizure-free status for all seizure types was observed in 9% of cases at 12 month, and absence of secondary generalized seizures only was achieved in 31% of patients. Adverse events were observed in 30.1% of patients: aggression – 11.5% and drowsiness – 9.6%, with all other AEs observed more rarely. PER dose was reduced due to side effects in 7 patients (13.5%), and in 4 patients (7.7%) PER was discontinued. Average PER dose in adult patients was as low as 6 mg. Conclusions PER was effective in the treatment of refractory forms of focal epilepsy, reducing seizure frequency on average by 76% by the second month of treatment. In addition to a good clinical effect, PER demonstrated a rather acceptable and predictable safety profile.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"118 1","pages":"7 - 14"},"PeriodicalIF":0.0,"publicationDate":"2016-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79532309","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}
引用次数: 1
Natural course of treated epilepsy and medico-social outcomes. Turku studies. Part II 癫痫治疗的自然过程和医学-社会结果。土的研究。第二部分
Journal of Epileptology Pub Date : 2016-01-25 DOI: 10.1515/JOEPI-2016-0001
M. Sillanpää
{"title":"Natural course of treated epilepsy and medico-social outcomes. Turku studies. Part II","authors":"M. Sillanpää","doi":"10.1515/JOEPI-2016-0001","DOIUrl":"https://doi.org/10.1515/JOEPI-2016-0001","url":null,"abstract":"Summary Introduction Population-based data on the prognosis of childhood-onset epilepsy were almost nonexistent in the 1960s. This prompted me to start an epidemiological prospective study on children with epilepsy. Aim To study the medical and social outcome of children with epilepsy. Methods The most important personal data on the natural course and outcome were reviewed and compared with the relevant data of other investigators. Results and discussion The natural course of treated epilepsy is remitting, uninterrupted by relapse (in 48%); a remitting-relapsing course (interrupted by relapses, in terminal remission) (19%); worsening course (early or late remission followed by drug-resistant epilepsy) (14%); and never in ?5-year remission (drug resistance) (19%) The medical and social outcomes based on my unique, five decades followed cohort show that most subjects are in 10-year remission without medications, which is the definition of resolved epilepsy. Normal or subnormal IQ, non-symptomatic etiology, and low seizure frequency both in the first year of AED treatment and prior to medication appear to be clinical predictors of cure in childhood-onset epilepsy. Subjects with 1-year remission during the first five years form onset of treatment have more than 10-fold chance for entering 5-year terminal remission vs those who have no 1-year remission during the first five years. Even about one fourth of difficult-to-treat subjects become seizure free on medication and more than half of them enter one or more 5-year remissions. Epilepsy has a substantial impact on quality of life even in those who are seizure free off medication for many years and particularly those not in remission or in remission but still on medication. Conclusions The prognosis is excellent for medical and social outcome. The successful outcome is confirmed by several longitudinal studies from recent decades. Good response to early drug therapy does not necessarily guarantee a favorable seizure outcome, and even a late good response may still predict a successful prognosis. Our life-cycle study is being continued and targets to answer the question whether or not childhood-onset epilepsy is a risk factor for premature and/or increased incidence of mental impairment and dementia.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"239 1","pages":"25 - 39"},"PeriodicalIF":0.0,"publicationDate":"2016-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90191594","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}
引用次数: 1
Concomitant treatment with imipenem causes a rapid and extensive decrease in the plasma concentrations of valproic acid 与亚胺培南同时治疗导致血浆丙戊酸浓度迅速和广泛下降
Journal of Epileptology Pub Date : 2016-01-25 DOI: 10.1515/JOEPI-2016-0006
T. Keränen, H. Kuusisto
{"title":"Concomitant treatment with imipenem causes a rapid and extensive decrease in the plasma concentrations of valproic acid","authors":"T. Keränen, H. Kuusisto","doi":"10.1515/JOEPI-2016-0006","DOIUrl":"https://doi.org/10.1515/JOEPI-2016-0006","url":null,"abstract":"Summary Background Valproic acid (VPA) is a wide-spectrum antiepileptic drug used both in children and in adults. We describe a clinically important interaction between VPA and imipenem, a carbapenem antimicrobial. Case presentation Our patient was a 19-year-old man with childhood onset of mental retardation and severe epilepsy. He was hospitalized due to pneumonia. His antiepileptic drugs, including VPA, were administered intravenously. Due to pneumonia, intravenously administered imipenem was started. After the start of imipenem treatment, a dramatic decrease in the plasma concentrations of VPA occurred within 24 hours. After the discontinuation of imipenem treatment, the concentration of VPA recovered within a few hours. The decrease in VPA levels was associated with increased seizure frequency. Conclusions The time course of the VPA–imipenem interaction suggests that mechanisms other than a change in the enzymatic elimination of VPA is the cause for this pharmacokinetic interaction. Concomitant use of VPA and imipenem should be avoided.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"65 1","pages":"63 - 66"},"PeriodicalIF":0.0,"publicationDate":"2016-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89773502","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}
引用次数: 1
Diagnosis of epilepsy – consequences for work and professional activities 癫痫的诊断-对工作和专业活动的影响
Journal of Epileptology Pub Date : 2015-12-01 DOI: 10.1515/JOEPI-2015-0032
Tobias Kniess, H. Stefan, Peter Brodisch
{"title":"Diagnosis of epilepsy – consequences for work and professional activities","authors":"Tobias Kniess, H. Stefan, Peter Brodisch","doi":"10.1515/JOEPI-2015-0032","DOIUrl":"https://doi.org/10.1515/JOEPI-2015-0032","url":null,"abstract":"Introduction. The correct diagnosis of epileptic seizures and non-epileptic attacks has a decisive influence on treatment, counseling and duration of possible work limitations. Diagnostic efforts should aim towards classifying the seizure as precisely as possible. For risk assessments, e.g. at the workplace, a close cooperation and networking of all professionals involved in the epilepsy treatment, care and consultation processes is required. Aim. To present guidelines for assessment of occupational capacity of persons with epilepsy and to discuss their value in clinical practice. Method and Material. The German employer’s liability insurance association has recently published the new revised BGI 585 Risk Assessment Guidelines (DGUV information 250-001) framework and assistance in epilepsy in view of protection against unfair dismissal. These guidelines provide information on safety and health in the workplace. Throughout all the German federal states, 24 Network teams were established. During the period January 2010 and December 2013, 374 employees with epilepsy were consulted by an expert member of Network Epilepsy and Work (NEA) Team, of which 80 were prospectively included in a study and scientifically evaluated. Guidelines and discussion. While conducting the risk assessment, a special medical fact check in accordance with the guidelines was used. In addition to medical aspects, the individual vocational and occupational situation was considered. Based on this assessment an individual recommendation was made relating to continuation of employment. The project NEA established regional teams of physicians, therapists, consultants from social services, employment offices and rehabilitation authorities across Germany in order to link by networks the complex medical and social aspects of reducing the risk of people with epilepsy losing their job. Results. It was shown that support and consultation through the NEA team led to an endangered position of employment being maintained in 70% of cases. Conclusion. In many cases, loss of employment can be prevented by consequent application of DGUV information 250-001 (recently revised from BGI 585) for risk assessment of epilepsy in employment, together with improved networking between medical professionals, occupational health professionals and social services.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"52 1","pages":"103-112"},"PeriodicalIF":0.0,"publicationDate":"2015-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88953046","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}
引用次数: 3
Epidemiology and long-term Turku outcome of childhood-onset epilepsy and mortality. Personal experiences. Part I 儿童癫痫的流行病学和长期Turku转归与死亡率。个人的经历。第一部分
Journal of Epileptology Pub Date : 2015-12-01 DOI: 10.1515/JOEPI-2015-0036
M. Sillanpää
{"title":"Epidemiology and long-term Turku outcome of childhood-onset epilepsy and mortality. Personal experiences. Part I","authors":"M. Sillanpää","doi":"10.1515/JOEPI-2015-0036","DOIUrl":"https://doi.org/10.1515/JOEPI-2015-0036","url":null,"abstract":"Prof. Dr. Matti Sillanpää, MD, PhD Department of Public Health 20014 University of Turku, Turku, Finland Phone: 358 400 829 428 Fax: 358 2 333 8439 e-mail: matti.sillanpaa@utu.fi Summary Introduction. Epidemiological studies on epilepsy were long based, with few exceptions, on hospital and institution patients with a subsequent bias toward more difficult cases and the reported prevalence and incidence rates were often obviously too low. Few data are available on the temporal changes in the incidence of epilepsy. Aim. To study the prevalence and incidence in an unselected child population including all the children living either in the society or in the institution, temporal changes in the incidence and mortality through five decades. Methods. The most important personal data were reviewed and compared with the relevant data of other investigators. Results and discussion. The prevalence of epilepsy in our study was 3.2/1000, quite obviously true for the contemporary methodology and well comparable with 3.4–4.2/1000 of other relevant studies published about two decades later and using a more advanced methodology. Similarly, the incidence of 35/100 000, ascertained in two Finnish studies, was comparable with the relevant contemporary literature data. Another study of ours shows that, probably associated with the people “coming from the shadows” and an improved diagnostic methodology, the incidence of childhood epilepsy has increased and is now 60–70/100 000. However, the incidence of childhood epilepsy shows an obvious decreasing trend in the first two decades of the 2000s. Conclusions. The incidence of childhood epilepsy, in all probability true for the contemporary methodology, was lower than it is now, but it now again shows a decreasing trend.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"38 1","pages":"149-157"},"PeriodicalIF":0.0,"publicationDate":"2015-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85361872","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}
引用次数: 5
Antiepileptic drugs as a new therapeutic concept for the prevention of cognitive impairment and Alzheimer’s disease. Recent advances 抗癫痫药物作为预防认知障碍和阿尔茨海默病的一种新的治疗理念。最新进展
Journal of Epileptology Pub Date : 2015-12-01 DOI: 10.1515/JOEPI-2015-0035
K. Sendrowski, W. Sobaniec
{"title":"Antiepileptic drugs as a new therapeutic concept for the prevention of cognitive impairment and Alzheimer’s disease. Recent advances","authors":"K. Sendrowski, W. Sobaniec","doi":"10.1515/JOEPI-2015-0035","DOIUrl":"https://doi.org/10.1515/JOEPI-2015-0035","url":null,"abstract":"SUMMARY Introduction Excessive accumulation of amyloid-beta (Aβ) peptides in the brain results initially in mild cognitive impairment (MCI) and finally in Alzheimer’s disease (AD). Evidences from experimental and clinical studies show that pathological hyperexcitability of hippocampal neurons is a very early functional impairment observed in progressive memory dysfunctions. Therefore, antiepileptic drugs (AEDs) whose mechanism of action is aimed at inhibition of such neuronal hyperexcitability, seems to be an rationale choice for MCI and AD treatment. Aim To provide data from experimental and clinical studies on: 1. The unfavorable impact of neuronal hyperexcitability, mainly within the hippocampus, on cognitive processes. 2. Efficacy of AEDs against such abnormally elevated neuronal activity for the prevention of progressive cognitive impairment. Methods A literature review of publications published within the last fifteen years, was conducted using the PubMed database. Review The authors describe Aβ-induced hyperexcitability of hippocampal nerve cells as the cause of cognitive deficits, the connection of such activity with an increased risk of seizures and epilepsy in patients with MCI/AD, and finally the efficacy of AEDs: valproic acid (VPA), phenytoin (PHT), topiramate (TPM), lamotrigine (LTG), ethosuximide (ESM) and levetiracetam (LEV) in the prevention of cognitive impairment in experimental models and patients with MCI/AD. Conclusions The majority of the studied AEDs improve cognitive dysfunction in various experimental models of Aβ-induced brain pathology with accompanied neuronal hyperexcitability. The promising results achieved for LEV in animal models of cognitive impairment were also confirmed in patients with MCI/AD. LEV was well-tolerated and it’s beneficial antidementive effect was confirmed by memory tests and fMRI examination. In conclusion, the use of AEDs could be a novel therapeutic concept for preventing cognitive impairment in patients with Aβ-associated brain pathology.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"37 1","pages":"139 - 147"},"PeriodicalIF":0.0,"publicationDate":"2015-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79505556","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}
引用次数: 0
Epidemiology and long-term Turku outcome of childhood-onset epilepsy and mortality. Personal experiences. Part I* 儿童癫痫的流行病学和长期Turku转归与死亡率。个人的经历。第一部分*
Journal of Epileptology Pub Date : 2015-12-01 DOI: 10.21307/joepi-2015-0036
M. Sillanpää
{"title":"Epidemiology and long-term Turku outcome of childhood-onset epilepsy and mortality. Personal experiences. Part I*","authors":"M. Sillanpää","doi":"10.21307/joepi-2015-0036","DOIUrl":"https://doi.org/10.21307/joepi-2015-0036","url":null,"abstract":"Summary Introduction Epidemiological studies on epilepsy were long based, with few exceptions, on hospital and institution patients with a subsequent bias toward more difficult cases and the reported prevalence and incidence rates were often obviously too low. Few data are available on the temporal changes in the incidence of epilepsy. Aim To study the prevalence and incidence in an unselected child population including all the children living either in the society or in the institution, temporal changes in the incidence and mortality through five decades. Methods The most important personal data were reviewed and compared with the relevant data of other investigators. Results and discussion The prevalence of epilepsy in our study was 3.2/1000, quite obviously true for the contemporary methodology and well comparable with 3.4-4.2/1000 of other relevant studies published about two decades later and using a more advanced methodology. Similarly, the incidence of 35/100 000, ascertained in two Finnish studies, was comparable with the relevant contemporary literature data. Another study of ours shows that, probably associated with the people “coming from the shadows” and an improved diagnostic methodology, the incidence of childhood epilepsy has increased and is now 60-70/100 000. However, the incidence of childhood epilepsy shows an obvious decreasing trend in the first two decades of the 2000s. Conclusions The incidence of childhood epilepsy, in all probability true for the contemporary methodology, was lower than it is now, but it now again shows a decreasing trend.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"153 1","pages":"149 - 157"},"PeriodicalIF":0.0,"publicationDate":"2015-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77431631","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}
引用次数: 0
The role of cannabinoids and endocannabinoid system in the treatment of epilepsy 大麻素和内源性大麻素系统在癫痫治疗中的作用
Journal of Epileptology Pub Date : 2015-11-30 DOI: 10.1515/JOEPI-2015-0034
Monika Pędracka, J. Gawłowicz
{"title":"The role of cannabinoids and endocannabinoid system in the treatment of epilepsy","authors":"Monika Pędracka, J. Gawłowicz","doi":"10.1515/JOEPI-2015-0034","DOIUrl":"https://doi.org/10.1515/JOEPI-2015-0034","url":null,"abstract":"Summary Introduction The treatment of epilepsy is still a major challenge. Despite the introduction of many new antiepileptic drugs, approximately 30% of patients still remain drug resistant. In the absence of a satisfactory therapy outcome, which is sometimes associated with numerous side effects, there is a need for new and effective drugs with low toxicity. Cannabinoids have been shown in preliminary animal model studies and in studies of patients with epilepsy to have antiepileptic activity. Aim The aim of this paper is to review current reports on the role of the endocannabinoid system and cannabinoids in the treatment of epilepsy. Methods Articles from PubMed and Scopus published up to 2015 concerning the role of cannabinoids and the endocannabinoid system in the treatment of epilepsy are reviewed. Review and Discussion Cannabis has been used for thousands of years in the treatment of various diseases. They contain cannabinoids, which act on the endocannabinoid system which regulates many biochemical and physiological processes. By affecting glutamate and gamma-aminobutyric acid (GABA) neurotransmission cannabinoids have the ability to affect seizure threshold. The best known cannabinoid is cannabidiol, which inhibits the occurrence of seizures without causing significant side effects in humans and animals. However, only a small number of double blind, randomized and placebo controlled studies have been published to date. Conclusions The role of cannabinoids in the treatment of epilepsy is not well defined because these substances have shown pro-convulsive actions in some animal studies and also there are not many randomized trials performed to date. The existing human data do not support the conclusion that cannabinoids are effective and safe in the treatment of epilepsy, but do encourage further studies on a larger group of patients.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"69 1","pages":"131 - 138"},"PeriodicalIF":0.0,"publicationDate":"2015-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87677767","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}
引用次数: 1
Comments to “Is epileptogenesis a key to treatment of childhood epileptic encephalopathies?” 对《癫痫发生是儿童癫痫性脑病治疗的关键吗?》
Journal of Epileptology Pub Date : 2015-11-24 DOI: 10.1515/JOEPI-2015-0028
E. Belousova
{"title":"Comments to “Is epileptogenesis a key to treatment of childhood epileptic encephalopathies?”","authors":"E. Belousova","doi":"10.1515/JOEPI-2015-0028","DOIUrl":"https://doi.org/10.1515/JOEPI-2015-0028","url":null,"abstract":"D ear Editor I’ve read with great interest and pleasure the letter of Sergiusz Jóźwiak about the perspectives in prophylactic treatment of epilepsy. Of cause the idea of a preventive treatment of epileptiform discharges on EEG in infants with tuberous sclerosis complex (TSC) is a revolutionary one, and Professor Jóźwiak is a pioneer in this field. During the past 2 years my group has been undertaking similar work whereby we EEG our infant patients with TSC (monthly) and subsequently prescribe antiepileptic drugs. Unfortunately it is not always with vigabatrin because it is not registered in our country. The results of this approach are good (but not as good as those published by Professor Jóźwiak and this may be due to the difficulty in sourcing vigabatrin). In more than 20 infants that we treated there was only 1 case of West syndrome; all other children either did not have epilepsy or had a rather benign focal variant without psychomotor regression. However, I would be very cautious to extrapolate this approach to the very wide spectrum of other epileptic encephalopathies. I know, there are many monogenic epileptic encephalopathies (more than 30 in internet database Online Mendelian Inheritance of Man – OMIM), many metabolic epilepsies (about 200 disorders with epilepsy) manifesting as encephalopathies, epileptic encephalopathies due to the different cortical dysplasias and neurodegenerative diseases. An experienced pediatric neurologist sometimes can diagnose the TSC early (before the start of seizures) – by the presence of cardiac rhabdomyomas and hypomelanotic macules; in familial cases we can diagnose the TSC in siblings with genetic testing. Is it possible to predict the development of other epileptic encephalopathies or define some to seizures in this group? I think, we cannot in the majority of cases. However, there are some exceptions to my mind: may be the infant with cerebral palsy due to grade 4 periventricular leucomalacia has a high risk of infantile spasms. If we see lissencephaly on brain MRI, it means obligatory infantile spasms in a child. But how can we predict other genetically determined epileptic encephalopathies – making the exon sequencing as neonatal screening? May be such screening can be undertaken once, but what should be done in the future? Also, I am not sure that we can find the universal biomarkers for all epileptic encephalopathies – as they are very heterogeneous in terms of their pathogenesis. We are feeling very enthusiastic about the EPISTOP project and finding the biomarkers of epilepsy in it, but they are the markers of epilepsy in certain condition – TSC. Will they be universal for other epileptic encephalopathies? Sergiusz Jóźwiak has the same concerns (see his letter). The other consideration is that vigabatrin appears to have unique efficacy for epilepsy (and may be not only epilepsy) in TSC. It seems not to be a simple antiseizure drug, but a drug influencing the basic mechanisms of the disease. Bo Zha","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"4 1","pages":"89 - 90"},"PeriodicalIF":0.0,"publicationDate":"2015-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76881899","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}
引用次数: 0
Radovici or Jeavons syndrome? Reply to comments 拉多维氏综合症还是杰文斯综合症?回复评论
Journal of Epileptology Pub Date : 2015-11-24 DOI: 10.1515/JOEPI-2015-0030
A. Covanis
{"title":"Radovici or Jeavons syndrome? Reply to comments","authors":"A. Covanis","doi":"10.1515/JOEPI-2015-0030","DOIUrl":"https://doi.org/10.1515/JOEPI-2015-0030","url":null,"abstract":"Dear Editor-in-Chief I would like to thank Striano for giving me the opportunity to write a few words on Radovici or Jeavons. There is no doubt that Radovici (1932, 1996) first described a case that could be classified as eyelid myoclonia and absences (seizure type) and or as self-induced epilepsy (Jeavons and Harding, 1975), in the same way we diagnose and classify them today. Furthermore, in those days when the EEG was at early stages of development, clinical observations were impossible to be matched with EEG findings. Even in recent years eminent epileptologists misdiagnosed Jeavons syndrome and eyeclosure sensitivity is seen in some EEG figure of Janz and Christian’s original paper in JME (Stefan and Theodore, 2012). In the book of Wallace and Farrel in 2004 it is stated that the first case of eyelid myoclonia was recognized by Radovici but subsequently Jeavons described ELMA as a syndrome. Therefore, there is no doubt that Jeavons first put together the cluster of clinical and EEG characteristics and first stated that constitute a separate type of photosensitive epilepsy. In my recent paper (Covanis, 2015) my aim was to review eyelid myoclonia and absences as a syndrome, named Jeavons syndrome and add to numerous reports since 1977 in order for Jeavons syndrome to be reconized as such by the International Community. A recent report gives us hope (Fisher et al., 2015).","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"49 1","pages":"129 - 129"},"PeriodicalIF":0.0,"publicationDate":"2015-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81156615","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}
引用次数: 0
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