Journal of Epileptology最新文献

{"title":"Current knowledge about epilepsy and associated psychosocial conditions","authors":"D. Talarska, J. Stanisławska, M. Strugała, Patrycja Talarska","doi":"10.1515/JOEPI-2015-0012","DOIUrl":"https://doi.org/10.1515/JOEPI-2015-0012","url":null,"abstract":"SUMMARY Introduction Social knowledge about epilepsy has significant influence on shaping attitudes towards people with this disorder. Aim The aim of the article was to find out an answer to the following question: How does the level of knowledge and perceiving people with epilepsy differ across societies of different countries? Material and methods We evaluated 30 publications published between 2000 and 2013 on measuring the knowledge about epilepsy and psycho-social functioning of people with epilepsy. The articles were divided into five groups (including five continents): Europe-14 articles: six from Poland and eight from other countries, one from New Zealand, five from America, six from Asia and four from Africa. Discussion and conclusions Despite widespread occurrence of the disorder in the world, the level of knowledge about epilepsy is low. Most authors, but also respondents, still postulate the necessity to introduce education on the matter to various age groups. The best form of communication used by the respondents is the media.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"17 1","pages":"25 - 36"},"PeriodicalIF":0.0,"publicationDate":"2014-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81799428","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":"Genetic epilepsies. Remarks on the proposed “Organization of the Epilepsies”*","authors":"H. Wieser","doi":"10.1515/JOEPI-2015-0011","DOIUrl":"https://doi.org/10.1515/JOEPI-2015-0011","url":null,"abstract":"Summary Introduction Genetic findings in several epilepsy syndromes provide insights into the pathophysiology of specific subtypes of epilepsy and into mechanisms of epileptogenesis, because the genes encoding ion channels, and proteins associated to the vesical synaptic cycle, or involved in energy metabolism, influence neuronal excitability. Aim The following aspects of genetic epilepsies will be discussed: new proposed “organization of the epilepsies”, genetic and other etiologies, electroclinical syndromes and their genetics and genetic testing in the epilepsies. Methods The updated review is based on OMIM™ (Online Mendelian Inheritance in Man). Review and remarks Because of the vast genetic and phenotypic heterogeneity, bridging genotype and phenotype remains a major challenge in epilepsy genetics. The so-called “idiopathic” epilepsies are genetically determined. The new ILAE proposal on the “organization” of the epilepsies takes into account the genetic advances. However, despite proposed changes in the nomenclature, the concept of the electroclinical syndrome, i.e. seizure types, age-dependent onset, electroencephalographic criteria, and concomitant symptoms, such as movement disorders or developmental delay, remain important criteria to group the epilepsies. Although also the differentiation “generalized” versus “focal” is nowadays discussed critically, for practical reasons these categories remain valid. Similarly the categories “benign” syndromes of early childhood, epileptic encephalopathies, and fever-associated syndromes, have their utility. Conclusions The large number of genetic defects in the epilepsies complicates their analysis. However, it is anticipated that novel genetic methods, that are able to analyze all known genes at a reasonable price, will help identify novel diagnostic and therapeutic avenues, including prognostic and genetic counseling. Today it is already possible to include into genetic testing genes responsible for the side effects of AEDs. In addition, for some epilepsy phenotypes it has became possible to predict the most efficacious antiepileptic drugs for patients based on their genetic makeup. Thus, the development of individualized medicine is expected to greatly improve the management of epilepsy patients.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"40 1","pages":"11 - 23"},"PeriodicalIF":0.0,"publicationDate":"2014-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81480829","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":"Handedness, cognitive processing and intelligence in patients with epilepsy","authors":"V. Kalinin, D. M. Nazmetdinova, A. V. Basamygin","doi":"10.1515/JOEPI-2015-0010","DOIUrl":"https://doi.org/10.1515/JOEPI-2015-0010","url":null,"abstract":"Summary Introduction The current knowledge of significance of some neurobiological and clinical variables for the development of cognitive deterioration in patients with epilepsy remains sparse and controversial. Aim The current study has been carried out in order to elucidate the role of handedness in terms of influence on cognitive processing and intelligence in patients with epilepsy. Material and methods One hundred and thirty two patients (62 males, 70 females, aged 27.8 ± 8.9 years) with epilepsy participated in the study. Patients were divided into two groups. The first group included 112 patients that were characterized by intelligence and cognitive impairment while the second group (20 patients) had no mental deterioration and was regarded as controls. The two diagnostic categories accorded with ICD-10 criteria. The diagnosis of Dementia (F-02.8) was confirmed in 54 patients, while the diagnosis of Mild Cognitive Impairment (F-06.7) was confirmed in 58 patients. Results Our results show that the level of left-handers among patients with cognitive Impairment achieved 14.2%, whilst in the group without cognitive deterioration there were no left-handers, and this difference was statistically significant (p = 0.051). An analysis of possible influence of motor lateralization on degree of cognitive deterioration, revealed that left-handedness determines the higher degrees of intelligence deterioration compared with right-handedness (χ2=6.64; p < 0,05). These data were confirmed by use of Wechsler Adult Intelligence Scale (WAIS) and the Mini Mental State Examination (MMSE) tests, and all left-handed epilepsy patients achieved lower scores on MMSE, total WAIS, as well as verbal and nonverbal WAIS scores. Conclusion Our data confirm a role of some neurobiological variables, with emphasis on cerebral motor lateralization, in their influence upon intelligence level and cognitive deterioration in epilepsy. These data may be used for predictive purposes of intelligence assessment in patients with epilepsy.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"417 1","pages":"5 - 13"},"PeriodicalIF":0.0,"publicationDate":"2014-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85357567","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":"Successful treatment with adjunctive lacosamide in a patient with long term “drug resistant” focal epilepsy","authors":"W. Fröscher, A. Rauber","doi":"10.1515/JOEPI-2015-0014","DOIUrl":"https://doi.org/10.1515/JOEPI-2015-0014","url":null,"abstract":"Summary Introduction A significant number of patients suffering from epilepsy prove to be resistant to antiepileptic drugs (AEDs). Recent studies, however, suggest that 10–20% of seemingly drug resistant patients may still become seizure-free under the influence of subsequent dosage modifications. Case report We report on a young man with cryptogenic focal epilepsy. He had his first seizure at the age of fifteen. His seizure frequency was decreased during the following 11 years. However, seizure-freedom was never achieved even though he was treated with twelve to fourteen different AEDs during this time. Intensive presurgical evaluations did not allow identification of a surgically remediable focus. Adjunctive treatment with lacosamide 400 mg/day was not successful. However, the patient became seizure-free immediately after an increase of the lacosamide dose up to 500 mg/day. The patient is now seizure-free for more than two years based on a combination of 500 mg lacosamide and 350 mg lamotrigine, followed by 550 mg and 250 mg, respectively. Discussion and conclusion This case report highlights that there is always a chance that modifying the medication can result in a drug-resistant epilepsy patient experiencing a significant reduction of seizures and becoming seizure-free. The decisive step in this example was the off-label prescription of a high dose of lacosamide which the patient tolerated well.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"143 1","pages":"51 - 55"},"PeriodicalIF":0.0,"publicationDate":"2014-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81714992","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":"Selected classical and novel antiepileptic drugs – mechanisms of action, neuroprotection, and effectiveness in epileptic and non-epileptic conditions","authors":"M. Chrościńska-Krawczyk, Magdalena Wałek, Bożydar Tylus, S. Czuczwar","doi":"10.1515/JOEPI-2015-0013","DOIUrl":"https://doi.org/10.1515/JOEPI-2015-0013","url":null,"abstract":"Summary Introduction One of the most common neurological disorders is epilepsy, characterised by recurrent spontaneus seizures. Although not fully efficient in ca 30% of patients, pharmacologic treatment of epilepsy plays an important therapeutic approach not only against epilepsy. Aim To provide data on the mechanism of action, activity and neuroprotective efficacy in experimental conditions, clinical efficacy against epilepsy and non-epileptic diseases of major, classical and newer antiepileptic drugs (AEDs – lamotrigine, topiramate, levetiracetam, valproate and carbamazepine). Methods A literature search for publications written in English, preferably published within a period of the last fifteen years, using the key words listed below. Review The majority of AEDs possess more than one mechanism of action. They exert their effect by acting on various receptors (different types of glutamatergic and mainly GABAA receptors), neurotransmitters (mainly glutamate or GABA) and voltage-gated ion channels (sodium or calcium ion channels). All reviewed AEDs possess neuroprotective activity, the weakest being carbamazepine. Apart from epilepsy, AEDs may be also used in the pharmacotherapy of migraine, neuropathic pain, spasticity, psychiatric disorders and Parkinsons’s or Alzheimer’s diseases. Conclusions As highlighted above, around 30% of epileptic patients do not substantially benefit from AEDs. It is possible that rational combinations of AEDs, based upon experimental studies, could improve this outcome. The neuroprotective effects of AEDs may point to their disease-modifying activity.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"28 1","pages":"37 - 50"},"PeriodicalIF":0.0,"publicationDate":"2013-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81356403","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":"Effect of plant polyphenols on seizures – animal studies","authors":"W. Lasoń, M. Leśkiewicz","doi":"10.1515/JOEPI-2015-0007","DOIUrl":"https://doi.org/10.1515/JOEPI-2015-0007","url":null,"abstract":"Summary Introduction Flavonoids are a large group of natural compounds that have been considered to be beneficial in ameliorating some age-dependent disorders. However, a potential use of these compounds in epilepsy treatment has not been systematically reviewed. Aim This review describes the pharmacological activity of some polyphenols (flavonoids) in different animal models of seizures e.g. pentylenetetrazole-induced seizures, kainate-induced seizures and pentylenetetrazole kindling in rats. Method and Discussion A literature review was conducted using PubMed from 1963 to October 2013 relating effects of flavonoids on experimentally-induced seizures in rodents. Articles chosen for references were queried with the following prompts: “flavonoids and epilepsy”, “flavonoids and seizures”, “plant polyphenols and epilepsy”, and “plant polyphenols and seizures”. Out of 84 reports 32 pharmacological studies with chemically well-defined flavonoids and using widely accepted animal models of seizures have been taken into account in this review. No clinical data on the antiepileptic effect of flavonoids have been reported so far. Conclusion The reviewed data suggest the possible benefits of some chemically well-defined polyphenolic compounds of plant origin in antiepileptic treatment. Among flavonoids, resveratrol, baicalein, quercetin and rutin showed significant antiseizure activity. The ability of flavonoids to prevent brain excitability and to protect the brain against oxidative stress-induced damage suggests a potential use of some flavonoids at least as adjunctive therapy for the treatment of epilepsy.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"105 1","pages":"79 - 87"},"PeriodicalIF":0.0,"publicationDate":"2013-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78050186","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 lateralizing and localizing value of peri-ictal cough in epileptic seizures","authors":"B. Korkmaz, Gülsün Erşen, Ş. Delil, Ç. Özkara, S. Yeni","doi":"10.1515/JOEPI-2015-0006","DOIUrl":"https://doi.org/10.1515/JOEPI-2015-0006","url":null,"abstract":"Summary Introduction Coughing may be observed as an epiphenomenon during or after epileptic seizures. Aim In this paper we discuss the lateralization and localization value of cough as an epileptic peri/post ictal semiological phenomenon. Material and Methods Seven patients presenting cough as a part of their symptomatology are presented. We will discuss cough in the context of these seven patients. Results Six out of these seven patients were multidrug resistant temporal lobe epilepsy patients, all were right handed. They were all examined for possible epilepsy surgery and four underwent surgery with complete seizure freedom. We do not have certain evidence for lateralization in one patient with hot water epilepsy though déjà vu as an initial symptom in this patient implies a temporal lobe onset. The seven other patients had temporal lobe epilepsy. Among the patients who had surgery, three had left sided and one had right sided temporal lobe surgery with consequent seizure freedom. Conclusion Referring to the argument in the literature, with our small patient sample, we might conclude that cough has significant value in localizing seizures to the temporal lobe but overall these limited data do not suggest a lateralizing value.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"15 1","pages":"71 - 77"},"PeriodicalIF":0.0,"publicationDate":"2013-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75497444","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":"Speeding up disease diagnosis: a reliable option for the epileptologist?","authors":"P. Striano, S. Striano","doi":"10.1515/JOEPI-2015-0005","DOIUrl":"https://doi.org/10.1515/JOEPI-2015-0005","url":null,"abstract":"Genetic epilepsies are a large group of disorders with heterogeneous etiologies and clinical features. Over the last two decades, a number of genetic anomalies and encoded proteins have been related to specific forms of idiopathic epilepsies and epileptic encephalopathies (Striano and Zara, 2011; Nicita et al., 2012). Most of these mutations involve subunits of neuronal ion channels (e.g. potassium, sodium, and chloride channels), and may result in abnormal neuronal hyperexcitability manifesting with epilepsy. However, non-ion channel proteins may also be affected. Mutations may be de novo, or, when inherited, show reduced penetrance and variable expressivity. Phenotypes may include, in addition to epilepsy, variable degrees of intellectual disability, elements of autism spectrum disorders, other psychiatric disorders, and motor impairment. However, correlations between genotype and phenotype are not easy to establish, since genetic and non-genetic factors are likely to play a role in determining the severity of clinical features. The growing number of discoveries on this topic is improving classification, prognosis and counselling of patients and families with these forms of epilepsy and may lead to targeted therapeutic approaches in the near future. Next generation sequencing (NGS) technologies now offer the possibility to map entire genomes at affordable costs, thus allowing coping with the complex diagnosis of genetically heterogeneous disorders. However, significant concerns relate to the management of too many DNA changes with unpredictable meaning and incidental findings that can cause ethical and clinical dilemmas. On the other hand, the technology of enrichment makes also possible to focus the sequencing to the exome or to a more specific DNA target and this is being used to set up cost-effective diagnostic tests. Severe myoclonic epilepsy in infancy or Dravet syndrome is a form of infantile onset epilepsy characterized by multiple seizure types, prolonged convulsive seizures and frequent episodes of status epilepticus (Dravet and Oguni, 2013). Seizures precipitated by fever are a main characteristic. Patients may show a family history of febrile seizures or epilepsy (Mancardi et al., 2006; Dravet and Oguni, 2013). Dravet syndrome is one of the most deleterious epilepsy syndromes during childhood and its treatment remains challenging. Moreover, some antiepileptic drugs, such as phenytoin, carbamazepine, and lamotrigine can worsen seizures and should be avoided (Striano et al., 2008). This condition is commonly caused by de novo mutations in the SCN1A gene, encoding the alpha1subunit of the neuronal voltage-gated sodium channel (SCN1A), which is the most clinically relevant among all the known epilepsy genes. The majority of SCN1A mutations arise de novo. However, SCN1A mutations have been documented in a spectrum of epilepsy syndromes, ranging from the benign ‘genetic epilepsy with febrile seizures plus’ (GEFS+) to some catastrophic epil","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"99 1","pages":"69 - 70"},"PeriodicalIF":0.0,"publicationDate":"2013-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75169113","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":"Burns from foul play? No – previously unsuspected epilepsy","authors":"P. Kaplan","doi":"10.1515/JOEPI-2015-0009","DOIUrl":"https://doi.org/10.1515/JOEPI-2015-0009","url":null,"abstract":"SUMMARY Introduction Injuries such as burns may occur from unwitnessed and unsuspected new onset epilepsy with forensic implications. Case report A young woman was found with >25% 2nd and 3rd degree body burns after an unwitnessed morning event in a shower. Discussion The onset of tonic-clonic seizures and limb jerks in adolescence with a typical EEG recording of 3–4/second spike/polyspike-and-waves are diagnostic of Juvenile Myoclonic Epilepsy (JME). Worldwide there is a significant morbidity and mortality in epilepsy from burns. The treatment of JME and of burns was discussed.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"5 1","pages":"105 - 107"},"PeriodicalIF":0.0,"publicationDate":"2013-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87746764","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":"Detection of SCN1A mutations in patients with severe myoclonic epilepsy in infancy by custom resequence array","authors":"Takayuki Sugawara, Shuichi Yoshida, Naoko Onodera, K. Wada, S. Hirose, S. Kaneko","doi":"10.1515/JOEPI-2015-0001","DOIUrl":"https://doi.org/10.1515/JOEPI-2015-0001","url":null,"abstract":"Summary Introduction Very few epilepsy phenotypes have been associated with causative genes; nevertheless, it is becoming possible, for some epilepsy phenotypes, to predict the most efficacious anti-epileptic drugs for patients based on their genetic makeup. The development of individualized medicine based on genetic information and the genetic diagnosis of epilepsy are expected to greatly improve the diagnosis and treatment of epilepsy. Here, we developed a DNA array (resequencing array) for the genetic diagnosis of epilepsies in which 14 epilepsy – related genes (SCN1A, SCN1B, CHRNA4, CHRNA7, CHRNB2, GABRA1, GABRD, GABRG2, CACNB4, CLCN2, KCNQ2, KCNQ3, CACNA1A, and CACNA1H) have been mounted. Aim The aim of the present study is to evaluate the performance of our custom array in detecting the SCN1A mutations in patients with severe myoclonic epilepsy in infancy. Material and methods We compared mutation data generated by DNA array sequencing of DNA samples from patients with severe myoclonic epilepsy in infancy to the data generated by capillary sequencing. Results Heterozygosity was detected in 44 of 48 patients (92%). We successfully identified epilepsy mutations, and the results of DNA array analyses were largely consistent with the results of capillary sequencing analysis. Conclusion These findings indicate that this DNA array is likely to be a useful tool in clinical settings.","PeriodicalId":15683,"journal":{"name":"Journal of Epileptology","volume":"8 1","pages":"5 - 13"},"PeriodicalIF":0.0,"publicationDate":"2013-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83372122","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}