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Polymorphisms of CYP and ethnic differences CYP多态性与民族差异
Epilepsy and Seizure Pub Date : 2010-01-01 DOI: 10.3805/EANDS.3.141
T. Tateishi
{"title":"Polymorphisms of CYP and ethnic differences","authors":"T. Tateishi","doi":"10.3805/EANDS.3.141","DOIUrl":"https://doi.org/10.3805/EANDS.3.141","url":null,"abstract":"There is ample evidence for genetic polymorphisms of drug-metabolizing enzymes showing distinct subgroups in a population with or without the ability to transform certain drugs into polar metabolites before elimination. The polymorphic alleles lead to altered activity of these isoenzymes causing absent, decreased, or increased metabolism. An individual carrying two defective mutation alleles is categorized as a poor metabolizer (PM) and an individual carrying one or two wild-type alleles as an extensive metabolizer (EM). Like most other agents, many antiepileptic drugs (AED) are metabolized by a variety of enzymatic reactions, and the polymorphisms in the CYP family have attracted considerable attention. The CYP2D6, 2C9, and 2C19 polymorphisms account for the most frequent variations in phase I metabolism of drugs [1, 2].","PeriodicalId":39430,"journal":{"name":"Epilepsy and Seizure","volume":"3 1","pages":"141-146"},"PeriodicalIF":0.0,"publicationDate":"2010-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70082089","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
Medial temporal lobe epilepsy associated with cortical dysplasia extending from the medial temporal lobe to the fornix: a case report 内侧颞叶癫痫与从内侧颞叶延伸至穹窿的皮质发育不良相关:1例报告
Epilepsy and Seizure Pub Date : 2010-01-01 DOI: 10.3805/EANDS.3.10
T. Morioka, N. Mukae, T. Sayama, T. Hamamura, Asako Nomoto, Kuniko Yamamoto, T. Kido, Tatsumi Yamaguchi, Satoshi O. Suzuki, Tomio Sasaki
{"title":"Medial temporal lobe epilepsy associated with cortical dysplasia extending from the medial temporal lobe to the fornix: a case report","authors":"T. Morioka, N. Mukae, T. Sayama, T. Hamamura, Asako Nomoto, Kuniko Yamamoto, T. Kido, Tatsumi Yamaguchi, Satoshi O. Suzuki, Tomio Sasaki","doi":"10.3805/EANDS.3.10","DOIUrl":"https://doi.org/10.3805/EANDS.3.10","url":null,"abstract":"We report a case of lesional medial temporal lobe epilepsy (TLE) associated with cortical dysplasia extending from the right medial temporal lobe to the fornix via the basal and medial aspects of the frontal lobe and septum pellucidum. A 23-year-old man had had medically intractable psychomotor seizures since 11 years of age. Interictal EEG demonstrated paroxysmal activities in the right temporal region, and functional imaging by positron emission tomography with [18F] fluorodeoxyglucose revealed a functional deficit zone in the apex and medial part of the right temporal lobe. An intraoperative electrocorticogram demonstrated frequent paroxysmal activities in the medial temporal lobe. An anterior temporal lobectomy was performed, with an additional hippocampectomy including the focus of the paroxysmal activities on the intraoperative hippocampal EEG. Postoperatively, he became seizure-free. The surgical strategies for intractable TLE with widely distributed cortical dysplasia lesion are discussed.","PeriodicalId":39430,"journal":{"name":"Epilepsy and Seizure","volume":"33 1","pages":"10-18"},"PeriodicalIF":0.0,"publicationDate":"2010-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70082263","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
Validation criteria for genetic animal models of epilepsy 癫痫遗传动物模型的验证标准
Epilepsy and Seizure Pub Date : 2010-01-01 DOI: 10.3805/EANDS.3.109
M. Okada, G. Zhu, S. Yoshida, S. Kaneko
{"title":"Validation criteria for genetic animal models of epilepsy","authors":"M. Okada, G. Zhu, S. Yoshida, S. Kaneko","doi":"10.3805/EANDS.3.109","DOIUrl":"https://doi.org/10.3805/EANDS.3.109","url":null,"abstract":"In the past decades, several mutant genes that encode ion channel subunit proteins or their functionally-related proteins have been identified in pedigrees of idiopathic epilepsy. To explore the pathogenesis and pathophysiology of epilepsy syndrome, the functional abnormalities of transmission in genetic animal models bearing the mutant genes identified in pedigrees of idiopathic epilepsy should be analyzed. In spite of these efforts, it is important to identify the most suitable genetic animal models for exploration of epileptogenesis and ictogenesis, as well as the development of novel antiepileptic drugs. In the literature on genetic epileptic animal models, there is no systematic discussion on how to assess the validation criteria for such models. In this review, we describe the validation criteria for genetic animal models of epilepsy.","PeriodicalId":39430,"journal":{"name":"Epilepsy and Seizure","volume":"3 1","pages":"109-120"},"PeriodicalIF":0.0,"publicationDate":"2010-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3805/EANDS.3.109","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70082275","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: 11
Epileptogenic ganglioglioma with hypermetabolism on positron emission tomography with fluorine-18 fluorodeoxyglucose: a case report 氟-18氟脱氧葡萄糖正电子发射断层扫描显示伴有高代谢的癫痫性神经节胶质瘤1例
Epilepsy and Seizure Pub Date : 2010-01-01 DOI: 10.3805/EANDS.3.125
Yoko Ibe, A. Takahashi, S. Ishiuchi, M. Hirato, Y. Yoshimoto, Y. Yuhara, A. Sasaki
{"title":"Epileptogenic ganglioglioma with hypermetabolism on positron emission tomography with fluorine-18 fluorodeoxyglucose: a case report","authors":"Yoko Ibe, A. Takahashi, S. Ishiuchi, M. Hirato, Y. Yoshimoto, Y. Yuhara, A. Sasaki","doi":"10.3805/EANDS.3.125","DOIUrl":"https://doi.org/10.3805/EANDS.3.125","url":null,"abstract":"Positron emission tomography with fluorine-18 fluorodeoxyglucose ([18F]FDG-PET) usually shows ganglioglioma as hypometabolic, in the absence of malignant transformation or high grade. We report a case of benign ganglioglioma in the left precentral gyrus showing hypermetabolism on [18F]FDG-PET, which was associated with intractable focal motor seizures. An 11-year-old girl started having simple partial seizures refractory to anti-epileptogenic medication since 4 years of age. Magnetic resonance imaging revealed a tumorous lesion in the left precentral gyrus. Interictal [18F]FDG-PET showed high [18F]FDG uptake in the lesion. Gross total resection was carried out. The histological diagnosis was low-grade ganglioglioma. The hypermetabolism on [18F]FDG-PET may be associated with epileptogenic activity of the ganglioglioma.","PeriodicalId":39430,"journal":{"name":"Epilepsy and Seizure","volume":"3 1","pages":"125-130"},"PeriodicalIF":0.0,"publicationDate":"2010-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70082372","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
Individualized Medicine for Epilepsy -Based on Genetic Information- 基于遗传信息的癫痫个体化治疗
Epilepsy and Seizure Pub Date : 2010-01-01 DOI: 10.3805/EANDS.3.163
Shuichi Yoshida, J. Saruwatari, Lei Chen, Fang Liu, H. Iwasa, Takayuki Sugawara, S. Kaneko
{"title":"Individualized Medicine for Epilepsy -Based on Genetic Information-","authors":"Shuichi Yoshida, J. Saruwatari, Lei Chen, Fang Liu, H. Iwasa, Takayuki Sugawara, S. Kaneko","doi":"10.3805/EANDS.3.163","DOIUrl":"https://doi.org/10.3805/EANDS.3.163","url":null,"abstract":"Current antiepileptic drug (AED) therapy requires trial and error in determining the most effective AED and dosage for a patient, and almost one-fourth of patients are resistant to AED therapy. The introduction of individualized medicine for epilepsy based on genetic information is a new avenue to improve current AED therapy. However, several crucial issues remain to be resolved before the development of individualized medicine for epilepsy can proceed further. The epilepsy genes responsible for common phenotypes have not yet been identified, and ongoing pharmacogenetic studies continue to search for an explanation of why 25 to 30% of patients do not respond to AEDs. There is no convincing clinical evidence indicating the impact of P-glycoprotein on prediction of clinical response. This article provides a critical review of the status and perspectives for the development of individualized medicine for epilepsy based on genetic polymorphisms/mutations in relation to core elements such as pharmacodynamic pathway, pharmacokinetic pathway, prediction of idiosyncratic reaction to AED, and mechanisms of action of AEDs.","PeriodicalId":39430,"journal":{"name":"Epilepsy and Seizure","volume":"3 1","pages":"163-191"},"PeriodicalIF":0.0,"publicationDate":"2010-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70082685","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
Genetic variations and response to antiepileptic drug 基因变异和抗癫痫药物的反应
Epilepsy and Seizure Pub Date : 2010-01-01 DOI: 10.3805/EANDS.3.65
Sung Eun Kim
{"title":"Genetic variations and response to antiepileptic drug","authors":"Sung Eun Kim","doi":"10.3805/EANDS.3.65","DOIUrl":"https://doi.org/10.3805/EANDS.3.65","url":null,"abstract":"Despite the state-of-the-art medical treatment with antiepileptic drugs (AED), at least one-third of newly diagnosed epilepsy patients may show poor response to AED. Although the biological mechanism of diverse responses to AED is poorly understood, it is likely that multifactorial factors could be responsible for the different responses. Clinical factors such as etiology of epilepsy and pre-treatment seizure frequency can predict the different responses to AED, whereas the role of genetic variations in individuals contributing to variation in response to AED is still conflicting. The inconsistency in proving the genetic roles in different responses to AED may be partly explained by (1) diversity of the definition of response to AED, (2) heterogeneity of the subjects, and (3) lack of multigenetic approach. While we hypothesize that the genetic variations in individuals may independently contribute to different responses to AED, multigenetic interactions including both the genetic variations of pharmacokinetics and pharmacodynamics may take place.","PeriodicalId":39430,"journal":{"name":"Epilepsy and Seizure","volume":"3 1","pages":"65-71"},"PeriodicalIF":0.0,"publicationDate":"2010-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3805/EANDS.3.65","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70082530","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
Intracellular CICR -associated pharmacological mechanism of action of antiepileptic drugs 抗癫痫药物细胞内CICR相关的药理作用机制
Epilepsy and Seizure Pub Date : 2010-01-01 DOI: 10.3805/EANDS.3.154
G. Zhu, M. Okada, S. Yoshida, S. Kaneko
{"title":"Intracellular CICR -associated pharmacological mechanism of action of antiepileptic drugs","authors":"G. Zhu, M. Okada, S. Yoshida, S. Kaneko","doi":"10.3805/EANDS.3.154","DOIUrl":"https://doi.org/10.3805/EANDS.3.154","url":null,"abstract":"Carbamazepine (CBZ) and zonisamide (ZNS) are antiepileptic drugs (AEDs) with multiple mechanisms of action, including inhibition of voltage-dependent sodium and calcium channels, enhancement of inhibitory events mediated by GABAergic neurotransmission, and blockade of the glutamatergic neurotransmission in the brain. Recently, the intracellular signaling pathways have been implicated as the new targets of AEDs. Especially, we have investigated the functional importance of Ca2+ mobilization, composed of influx through Ca2+ channels and output through ryanodine receptor (RyR)- and inositol-triphosphate receptor (IP3R)-sensitive intracellular Ca2+-induced Ca2+ releasing systems (CICRs), in the pathogenesis of epilepsy and the pharmacological mechanism of AEDs. In this review, we discuss the actions of CBZ and ZNS on neurotransmitter exocytosis associated with RyR-sensitive CICR. Further studies on the mechanisms of action of AEDs may help to understand the clinical benefits of AEDs in the treatment of epilepsy disorders.","PeriodicalId":39430,"journal":{"name":"Epilepsy and Seizure","volume":"3 1","pages":"154-162"},"PeriodicalIF":0.0,"publicationDate":"2010-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70082661","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
Clinical experience with open-label topiramate use in epileptic children with CNS anomalies 开放标签托吡酯治疗伴有中枢神经系统异常的癫痫儿童的临床经验
Epilepsy and Seizure Pub Date : 2010-01-01 DOI: 10.3805/EANDS.3.84
Ming-Tao Yang, Wang-Tso Lee, Yu-Jun Yang, Wen‐Cheng Chang, Jao-Shwann Liang
{"title":"Clinical experience with open-label topiramate use in epileptic children with CNS anomalies","authors":"Ming-Tao Yang, Wang-Tso Lee, Yu-Jun Yang, Wen‐Cheng Chang, Jao-Shwann Liang","doi":"10.3805/EANDS.3.84","DOIUrl":"https://doi.org/10.3805/EANDS.3.84","url":null,"abstract":"Purpose: To investigate the effectiveness and tolerability of topiramate (TPM) in treating children with CNS anomalies and intractable epilepsy.Methods: We retrospectively searched the patient database in National Taiwan University Hospital for candidate children (younger than 18 years of age) with epilepsy and CNS anomalies from December 2002 to February 2004. The effectiveness and possible side effects of TPM were evaluated by questionnaire.Results: Twenty-two children (9 males, 13 females) aged from five months to fourteen years were enrolled in the present study. Underlying CNS anomalies were proliferation disorders (n=10), migration/organization disorders (n=10), and neurocutaneous syndromes (n=2). Types of epilepsy at TPM add-on were symptomatic partial epilepsy (n=11), infantile spasms (n=7), and Lennox-Gastaut syndrome (n=4). During the follow-up periods of six to 30 months, eight patients (36%) had more than 50% reduction of seizures and four patients (18%) were seizure-free. The average dosages of TPM ranged from 2.5 to 25 mg⁄kg⁄day. Patients with proliferation disorders or infantile spasms responded better to TPM therapy. The most common side effect was oligohidrosis (n=9, 41%).Conclusion: TPM is a safe and promising add-on anticonvulsant for epileptic children with CNS anomalies. Hypohidrosis is one of the major side effects of TPM treatment.","PeriodicalId":39430,"journal":{"name":"Epilepsy and Seizure","volume":"3 1","pages":"84-95"},"PeriodicalIF":0.0,"publicationDate":"2010-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70082709","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
Epileptic focus in a case of subcortical band heterotopia: SISCOM and ictal EEG findings 皮质下带异位的癫痫病灶:SISCOM和头部脑电图的发现
Epilepsy and Seizure Pub Date : 2010-01-01 DOI: 10.3805/EANDS.3.192
K. Kikuchi, S. Hamano, Fumihiro Goto, A. Takahashi, H. Ida
{"title":"Epileptic focus in a case of subcortical band heterotopia: SISCOM and ictal EEG findings","authors":"K. Kikuchi, S. Hamano, Fumihiro Goto, A. Takahashi, H. Ida","doi":"10.3805/EANDS.3.192","DOIUrl":"https://doi.org/10.3805/EANDS.3.192","url":null,"abstract":"We presented an 11-month-old-girl with subcortical band heterotopia who had focal epilepsy detected by subtraction single photon emission computed tomography (SPECT) coregistered to magnetic resonance (MR) imaging (SISCOM) and ictal electroencephalogram. She manifested cluster of partial seizures composed of asymmetric tonic posturing accompanied by head rotation to the right side. Ictal electroencephalogram showed that paroxysmal discharges were generated from the right parieto-occipital area and spread to surrounding areas. SISCOM revealed hyperperfusion in the overlying cortex of the right superior temporal gyrus, which corresponded to the onset area of ictal epileptiform discharges. These neurofunctional findings corresponded to her clinical seizures. Her seizures were controlled by high-dose phenobarbital therapy. We considered that the patient had focal epilepsy and that the epileptic focus might be in the overlying cortex, but not in the subcortical band.","PeriodicalId":39430,"journal":{"name":"Epilepsy and Seizure","volume":"3 1","pages":"192-198"},"PeriodicalIF":0.0,"publicationDate":"2010-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70082782","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
Treatment for epilepsy in later life 晚年癫痫的治疗
Epilepsy and Seizure Pub Date : 2010-01-01 DOI: 10.3805/EANDS.3.24
M. Brodie
{"title":"Treatment for epilepsy in later life","authors":"M. Brodie","doi":"10.3805/EANDS.3.24","DOIUrl":"https://doi.org/10.3805/EANDS.3.24","url":null,"abstract":"Old age is now the commonest time to develop epilepsy, often as a consequence of underlying cerebrovascular or neurodegenerative disease. Age-related physiological changes can affect the pharmacokinetics and pharmacodynamics of antiepileptic drugs. Only three double-blind, head-to-head, randomised, controlled trials have been undertaken in this patient population and so pharmacological treatment tends to be empirical, often based on what antiepileptic drug not to chose for an individual patient. The available evidence has tended to favour lamotrigine, and perhaps gabapentin, over carbamazepine, based on better tolerability rather than superior efficacy for newly diagnosed epilepsy in this population. Preliminary data with levetiracetam suggest that this drug will also be useful in older people as a consequence of its favourable side-effect profile and lack of idiosyncratic reactions and drug interactions. Despite the dearth of high quality trial evidence, published outcome data hint at a good prognosis with a single antiepileptic drug for the majority of elderly people with epilepsy. A few patients will require low dose combination therapy. Epilepsy surgery is also an occasional option in this population. As life expectancy rises, so will the likelihood of presenting with seizures in later life placing an increasing burden on healthcare resources.","PeriodicalId":39430,"journal":{"name":"Epilepsy and Seizure","volume":"3 1","pages":"24-33"},"PeriodicalIF":0.0,"publicationDate":"2010-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3805/EANDS.3.24","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70082804","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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