首页 > 最新文献

Journal of Pediatric Epilepsy最新文献

英文 中文
The Role and Controversies of Electroencephalogram in Focal versus Generalized Epilepsy 脑电图在局灶性与全身性癫痫中的作用及争议
IF 0.2 Pub Date : 2021-02-19 DOI: 10.1055/s-0041-1722869
Shoba Jayaram, M. Alkhaldi, Asim M Shahid
Abstract As early in 1935, Gibbs et al described electroencephalogram (EEG) features of large slow waves seen in “petit mal” seizures and change in background rhythm to a higher frequency, greater amplitude pattern in “grand mal” seizures. Studies have shown many typical EEG features in focal onset as well as generalized epilepsies.2 3 It is usually easy to delineate focal epilepsy cases when EEG onset of seizures is clear as seen in Benign focal epileptiform discharges of childhood.4 However, it is not uncommon to see cases where epileptiform discharges are not very clear. For example, there can be secondary bilateral synchrony or generalized onset of epileptiform discharges in some cases of focal epilepsy5 and nongeneralized EEG features is cases of generalized epilepsy like absence seizures.6 The awareness of occurrence of focal clinical and EEG features in generalized epilepsy is particularly important to help to select appropriate AEDs and also to avoid inappropriate consideration for epilepsy surgery.7 Lüders et al8 have shown that multiple factors like electroclinical seizure evolution, neuroimaging (both functional and anatomical) have to be analyzed in depth before defining an epileptic syndrome. Here, we are providing few examples of different situations where it is still mysterious to figure out focal onset seizures with secondary generalization versus primary generalized epilepsy.
早在1935年,Gibbs等人就描述了脑电图(EEG)的特征,即在“小发作”中出现大慢波,而在“大发作”中,背景节律转变为频率更高、幅度更大的模式。研究显示局灶性癫痫和全身性癫痫有许多典型的脑电图特征。如儿童良性局灶性癫痫样放电,当脑电图发作清晰时,通常很容易描述局灶性癫痫病例然而,它并不罕见,看到的情况下,癫痫样放电不是很清楚。例如,在某些局灶性癫痫病例中,可能会出现继发性双侧同步或全身性癫痫样放电5,而在全身性癫痫病例中,如失神发作,则可能出现非全身性脑电图特征6了解广泛性癫痫的局灶性临床和脑电图特征对于选择合适的抗癫痫药和避免不适当的癫痫手术治疗尤为重要l等人8已经表明,在确定癫痫综合征之前,必须深入分析多种因素,如电临床发作演变,神经影像学(功能和解剖学)。在这里,我们提供了一些不同情况的例子,在这些情况下,继发性广泛性癫痫与原发性广泛性癫痫的局灶性发作仍然是一个谜。
{"title":"The Role and Controversies of Electroencephalogram in Focal versus Generalized Epilepsy","authors":"Shoba Jayaram, M. Alkhaldi, Asim M Shahid","doi":"10.1055/s-0041-1722869","DOIUrl":"https://doi.org/10.1055/s-0041-1722869","url":null,"abstract":"Abstract As early in 1935, Gibbs et al described electroencephalogram (EEG) features of large slow waves seen in “petit mal” seizures and change in background rhythm to a higher frequency, greater amplitude pattern in “grand mal” seizures. Studies have shown many typical EEG features in focal onset as well as generalized epilepsies.2 3 It is usually easy to delineate focal epilepsy cases when EEG onset of seizures is clear as seen in Benign focal epileptiform discharges of childhood.4 However, it is not uncommon to see cases where epileptiform discharges are not very clear. For example, there can be secondary bilateral synchrony or generalized onset of epileptiform discharges in some cases of focal epilepsy5 and nongeneralized EEG features is cases of generalized epilepsy like absence seizures.6 The awareness of occurrence of focal clinical and EEG features in generalized epilepsy is particularly important to help to select appropriate AEDs and also to avoid inappropriate consideration for epilepsy surgery.7 Lüders et al8 have shown that multiple factors like electroclinical seizure evolution, neuroimaging (both functional and anatomical) have to be analyzed in depth before defining an epileptic syndrome. Here, we are providing few examples of different situations where it is still mysterious to figure out focal onset seizures with secondary generalization versus primary generalized epilepsy.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85893677","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
Atypical Presentation of Aromatic L-Amino Acid Decarboxylase Deficiency with Developmental Epileptic Encephalopathy 芳香l -氨基酸脱羧酶缺乏与发育性癫痫性脑病的不典型表现
IF 0.2 Pub Date : 2021-02-09 DOI: 10.1055/s-0041-1723768
Francesca Marchese, Elena Faedo, M. Vari, P. Bergonzini, M. Iacomino, A. Guerra, L. Franceschetti, A. Baroni, P. Scudieri, C. Minetti, P. Striano
Abstract Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive metabolic disorder resulting from disease-causing pathogenic variants of the dopa decarboxylase (DDC) gene. The neurological features of AADC deficiency include early-onset hypotonia, oculogyric crises, ptosis, dystonia, hypokinesia, impaired development, and autonomic dysfunction. In this article, we reported a patient with genetically confirmed AADC deficiency presenting with developmental epileptic encephalopathy (DEE). Our patient was a boy with severe intractable epileptic spasms and DEE. The patient was evaluated for cognitive and neurologic impairment. Exome sequencing revealed a homozygous mutation (NM_000790.4:c.121C > A; p.Leu41Met) in the DDC gene. This case expands the clinical spectrum of AADC deficiency and strengthens the association between dopa decarboxylase deficiency and epilepsy. Additional studies are warranted to clarify the mechanisms linking dopa decarboxylase dysfunction to DEE.
芳香l -氨基酸脱羧酶(AADC)缺乏症是由多巴脱羧酶(DDC)基因致病变异引起的常染色体隐性代谢疾病。AADC缺乏的神经学特征包括早发性张力低下、眼部危象、上睑下垂、张力障碍、运动障碍、发育受损和自主神经功能障碍。在这篇文章中,我们报告了一名基因证实AADC缺乏的患者,表现为发育性癫痫性脑病(DEE)。我们的病人是一名患有严重顽固性癫痫痉挛和DEE的男孩。评估患者的认知和神经功能障碍。外显子组测序显示一个纯合突变(NM_000790.4:c.121C > a;p.Leu41Met)在DDC基因中的表达。本病例扩大了AADC缺乏症的临床范围,并加强了多巴脱羧酶缺乏症与癫痫之间的联系。需要进一步的研究来阐明多巴脱羧酶功能障碍与DEE之间的联系机制。
{"title":"Atypical Presentation of Aromatic L-Amino Acid Decarboxylase Deficiency with Developmental Epileptic Encephalopathy","authors":"Francesca Marchese, Elena Faedo, M. Vari, P. Bergonzini, M. Iacomino, A. Guerra, L. Franceschetti, A. Baroni, P. Scudieri, C. Minetti, P. Striano","doi":"10.1055/s-0041-1723768","DOIUrl":"https://doi.org/10.1055/s-0041-1723768","url":null,"abstract":"Abstract Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive metabolic disorder resulting from disease-causing pathogenic variants of the dopa decarboxylase (DDC) gene. The neurological features of AADC deficiency include early-onset hypotonia, oculogyric crises, ptosis, dystonia, hypokinesia, impaired development, and autonomic dysfunction. In this article, we reported a patient with genetically confirmed AADC deficiency presenting with developmental epileptic encephalopathy (DEE). Our patient was a boy with severe intractable epileptic spasms and DEE. The patient was evaluated for cognitive and neurologic impairment. Exome sequencing revealed a homozygous mutation (NM_000790.4:c.121C > A; p.Leu41Met) in the DDC gene. This case expands the clinical spectrum of AADC deficiency and strengthens the association between dopa decarboxylase deficiency and epilepsy. Additional studies are warranted to clarify the mechanisms linking dopa decarboxylase dysfunction to DEE.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76259096","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
Medical Management in Focal versus Generalized Epilepsy 局灶性癫痫与全身性癫痫的医疗管理
IF 0.2 Pub Date : 2021-02-02 DOI: 10.1055/s-0040-1722297
Kumar Sannagowdara, N. Khan
Abstract About 70% of children with new-onset epilepsy have the potential to become seizure-free on antiepileptic drug (AED) monotherapy with appropriately selected first-line medication. In ideal world, physician is expected to achieve best possible seizure control without impacting the quality of life. There is rapid increase in number of AEDs available over last couple of decades. Although not necessarily all of them are superior to old generation drugs in terms of seizure control, certainly there is change in landscape from perspective of tolerability and side-effect profile. Physicians must therefore be familiar with safety, tolerability, therapeutic effects, synergistic combinations as well as AEDs to avoid in specific circumstances. The article attempts to give general overview of available AEDs under broad umbrella of effectiveness against focal and generalized seizures as well as drugs with “broad spectrum.” The emergence of newer AEDs with broad spectrum and favorable side-effect profile is welcome. However, the future lies in better understanding of underlying diverse pathophysiology of clinical symptom “epilepsy” and developing new compounds acting on molecular targets as well as individualizing therapy. Technological advances in molecular genetics research are bringing precision medicine to the fore.
约70%的新发癫痫患儿接受抗癫痫药物单药治疗,并适当选择一线药物,有可能实现无癫痫发作。在理想情况下,医生被期望在不影响生活质量的情况下实现最好的癫痫控制。在过去几十年里,可用的aed数量迅速增加。虽然并非所有的药物在控制癫痫发作方面都优于老一代药物,但从耐受性和副作用的角度来看,肯定会发生变化。因此,医生必须熟悉安全性、耐受性、治疗效果、协同组合以及在特定情况下避免使用aed。本文试图对抗局灶性和全面性癫痫发作以及“广谱”药物的有效性进行概述。具有广谱和良好副作用的新型aed的出现是受欢迎的。然而,未来在于更好地了解临床症状“癫痫”的潜在多种病理生理,开发作用于分子靶点的新化合物以及个体化治疗。分子遗传学研究的技术进步将精准医学带到了前台。
{"title":"Medical Management in Focal versus Generalized Epilepsy","authors":"Kumar Sannagowdara, N. Khan","doi":"10.1055/s-0040-1722297","DOIUrl":"https://doi.org/10.1055/s-0040-1722297","url":null,"abstract":"Abstract About 70% of children with new-onset epilepsy have the potential to become seizure-free on antiepileptic drug (AED) monotherapy with appropriately selected first-line medication. In ideal world, physician is expected to achieve best possible seizure control without impacting the quality of life. There is rapid increase in number of AEDs available over last couple of decades. Although not necessarily all of them are superior to old generation drugs in terms of seizure control, certainly there is change in landscape from perspective of tolerability and side-effect profile. Physicians must therefore be familiar with safety, tolerability, therapeutic effects, synergistic combinations as well as AEDs to avoid in specific circumstances. The article attempts to give general overview of available AEDs under broad umbrella of effectiveness against focal and generalized seizures as well as drugs with “broad spectrum.” The emergence of newer AEDs with broad spectrum and favorable side-effect profile is welcome. However, the future lies in better understanding of underlying diverse pathophysiology of clinical symptom “epilepsy” and developing new compounds acting on molecular targets as well as individualizing therapy. Technological advances in molecular genetics research are bringing precision medicine to the fore.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88453563","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
Neuroimaging of Childhood Epilepsy: Focal versus Generalized Epilepsy 儿童癫痫的神经影像学:局灶性与全身性癫痫
IF 0.2 Pub Date : 2021-02-02 DOI: 10.1055/s-0040-1722301
R. Assadsangabi, A. Ozturk, Trishna Kantamneni, Nazarin Azizi, S. Asaikar, L. Hacein-Bey
Abstract Neuroimaging plays an increasingly crucial role in delineating the pathophysiology, and guiding the evaluation, management and monitoring of epilepsy. Imaging contributes to adequately categorizing seizure/epilepsy types in complex clinical situations by demonstrating anatomical and functional changes associated with seizure activity. This article reviews the current status of multimodality neuroimaging in the pediatric population, including focal lesions which may result in focal epileptic findings, focal structural abnormalities that may manifest as generalized epileptiform discharges, and generalized epilepsy without evidence of detectable focal abnormalities.
神经影像学在描述癫痫的病理生理、指导癫痫的评估、管理和监测方面发挥着越来越重要的作用。通过显示与癫痫活动相关的解剖和功能变化,成像有助于在复杂的临床情况下充分分类癫痫/癫痫类型。本文回顾了目前小儿多模式神经影像学的现状,包括可能导致局灶性癫痫的病灶病变,可能表现为全身性癫痫样放电的局灶性结构异常,以及没有可检测到的局灶性异常证据的全身性癫痫。
{"title":"Neuroimaging of Childhood Epilepsy: Focal versus Generalized Epilepsy","authors":"R. Assadsangabi, A. Ozturk, Trishna Kantamneni, Nazarin Azizi, S. Asaikar, L. Hacein-Bey","doi":"10.1055/s-0040-1722301","DOIUrl":"https://doi.org/10.1055/s-0040-1722301","url":null,"abstract":"Abstract Neuroimaging plays an increasingly crucial role in delineating the pathophysiology, and guiding the evaluation, management and monitoring of epilepsy. Imaging contributes to adequately categorizing seizure/epilepsy types in complex clinical situations by demonstrating anatomical and functional changes associated with seizure activity. This article reviews the current status of multimodality neuroimaging in the pediatric population, including focal lesions which may result in focal epileptic findings, focal structural abnormalities that may manifest as generalized epileptiform discharges, and generalized epilepsy without evidence of detectable focal abnormalities.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74496446","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
Seizure Semiology in Focal and Generalized Epilepsies: Distinctive and Overlapping Features 局灶性和全身性癫痫的癫痫符号学:不同的和重叠的特征
IF 0.2 Pub Date : 2021-02-02 DOI: 10.1055/s-0040-1722300
Ahmad Marashly
Abstract Studying seizure semiology is the first step in evaluating any patient with epilepsy which leads the way to further investigations and management, particularly in differentiating focal and generalized epilepsies. While the usefulness of semiological analysis has been confirmed through decades' worth of research and clinical practice, there remains some instances when the line between focal and generalized semiological features is blurred leading to difficulties identifying the type of epilepsy at hand. This in turn can lead to delayed or wrong diagnoses with significant implications.In this review article, we explain the role of semiology in epilepsy, specifically in differentiating focal versus generalized epilepsies and cover the semiological features for both groups. We also discuss the occasional overlapping semiology between the two groups and provide case examples.
研究癫痫符号学是评估任何癫痫患者的第一步,它会导致进一步的调查和治疗,特别是在区分局灶性和全身性癫痫方面。虽然符号学分析的有用性已通过数十年的研究和临床实践得到证实,但仍然存在一些情况,当局灶性和广义符号学特征之间的界限模糊时,导致难以识别癫痫的类型。这反过来又可能导致延误或错误的诊断具有重大意义。在这篇综述文章中,我们解释了符号学在癫痫中的作用,特别是在区分局灶性癫痫和广泛性癫痫方面,并涵盖了两组的符号学特征。我们还讨论了两组之间偶尔重叠的符号学,并提供了案例。
{"title":"Seizure Semiology in Focal and Generalized Epilepsies: Distinctive and Overlapping Features","authors":"Ahmad Marashly","doi":"10.1055/s-0040-1722300","DOIUrl":"https://doi.org/10.1055/s-0040-1722300","url":null,"abstract":"Abstract Studying seizure semiology is the first step in evaluating any patient with epilepsy which leads the way to further investigations and management, particularly in differentiating focal and generalized epilepsies. While the usefulness of semiological analysis has been confirmed through decades' worth of research and clinical practice, there remains some instances when the line between focal and generalized semiological features is blurred leading to difficulties identifying the type of epilepsy at hand. This in turn can lead to delayed or wrong diagnoses with significant implications.In this review article, we explain the role of semiology in epilepsy, specifically in differentiating focal versus generalized epilepsies and cover the semiological features for both groups. We also discuss the occasional overlapping semiology between the two groups and provide case examples.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77424568","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
Are Absence and Limbic Seizures Mutually Exclusive?: An Experimental Approach to Enigmatic Clinical Concept 脑功能缺失和边缘癫痫是相互排斥的吗?疑难临床概念的实验研究
IF 0.2 Pub Date : 2021-02-02 DOI: 10.1055/s-0041-1722870
F. Onat, E. Eşkazan
Abstract The impressive advances in the several disciplines including neurophysiology, molecular biology, neuroimmunology, neurogenetics, neuroimaging, and neuropharmacology of epilepsies have been stimulating a mutual interaction among basic scientists, clinicians, and professionals from other disciplines, leading to the identification of clinical questions and then the design of basic science paradigms to test enigmatic clinical issues. Based on a clinical observation that the coexistence of genetic (idiopathic) generalized typical absence and mesial temporal lobe epilepsy in the same patient is extremely rare and debatable, we addressed the rare coexistence in the same individual, designed an experimental approach to test the validity of this clinical concept and to study the underlying mechanisms involved. Here we presented evidence of a mutual cross-interaction in the circuits involved in typical absence and temporal lobe epilepsy. This article delineates a phenomenological picture and comprehends a theoretical understanding of a mutual cross-interaction in typical absence as a representative of genetic generalized epilepsies and limbic epilepsy in which seizures often start from the mesial temporal lobe.
癫痫的神经生理学、分子生物学、神经免疫学、神经遗传学、神经影像学和神经药理学等多个学科取得了令人印象深刻的进展,促进了基础科学家、临床医生和其他学科专业人员之间的相互交流,从而确定了临床问题,然后设计了基础科学范式来测试神秘的临床问题。根据临床观察,遗传性(特发性)广泛性典型缺失和内侧颞叶癫痫在同一患者中共存是非常罕见和有争议的,我们针对同一个体的罕见共存,设计了一种实验方法来测试这一临床概念的有效性,并研究其潜在机制。在这里,我们提出了在典型的缺失和颞叶癫痫所涉及的回路中相互交叉作用的证据。这篇文章描绘了一个现象学的画面,并理解了在典型的缺失中相互作用的理论理解,作为遗传性广泛性癫痫和边缘癫痫的代表,癫痫发作通常从内侧颞叶开始。
{"title":"Are Absence and Limbic Seizures Mutually Exclusive?: An Experimental Approach to Enigmatic Clinical Concept","authors":"F. Onat, E. Eşkazan","doi":"10.1055/s-0041-1722870","DOIUrl":"https://doi.org/10.1055/s-0041-1722870","url":null,"abstract":"Abstract The impressive advances in the several disciplines including neurophysiology, molecular biology, neuroimmunology, neurogenetics, neuroimaging, and neuropharmacology of epilepsies have been stimulating a mutual interaction among basic scientists, clinicians, and professionals from other disciplines, leading to the identification of clinical questions and then the design of basic science paradigms to test enigmatic clinical issues. Based on a clinical observation that the coexistence of genetic (idiopathic) generalized typical absence and mesial temporal lobe epilepsy in the same patient is extremely rare and debatable, we addressed the rare coexistence in the same individual, designed an experimental approach to test the validity of this clinical concept and to study the underlying mechanisms involved. Here we presented evidence of a mutual cross-interaction in the circuits involved in typical absence and temporal lobe epilepsy. This article delineates a phenomenological picture and comprehends a theoretical understanding of a mutual cross-interaction in typical absence as a representative of genetic generalized epilepsies and limbic epilepsy in which seizures often start from the mesial temporal lobe.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79427608","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
Focal versus Generalized Epilepsy—An Enigma 局灶性与全身性癫痫:一个谜
IF 0.2 Pub Date : 2021-01-23 DOI: 10.1055/s-0041-1725992
M. Ilyas, U. Işık
The diagnosis of focal versus generalized epilepsy can be precise in classic cases, and in other instances, we see many variabilities with overlapping features or atypical features in these epilepsies. This imperfect distinction between generalized and focal epilepsiesmakes it challenging in our clinical practice. The clinical information obtained through semiology, electroencephalography, and neuroimaging is essential for diagnostic and therapeutic purposes. There are different scenarios and practical challenges we face in evaluating distinctly diverse focal versus generalized epilepsy. The presence of various overlapping features of focal andgeneralizedepilepsies, differentmanifestationsofepilepsy syndrome, and other epileptiform discharges’ characteristics may represent a continuum between focal and generalized epilepsies. There is a spectrum with generalized appearing epileptiform discharges emanating from focal epileptic activity concordant with magnetic resonance imaging (MRI) lesion for consideration of epilepsy surgery on one side and the awareness of focal clinical and electroencephalographic (EEG) features in generalized epilepsy to help select appropriate antiepileptic drugs (AEDs) and avoid inappropriate consideration for epilepsy surgery on the other side. There are other challenging scenarios where imaging modalities such as magnetoencephalography may be useful in differentiating secondarygeneralizedepileptiformdischarges versusprimary generalized discharges and the use of positron emission tomography in case of nonconcordant electroclinical data or finding a focus in difficult-to-treat generalized epilepsy. This enigma of focal and generalized epilepsies is further compounded by challenging situations with unclear semiological features, nonlocalizing or inconclusive EEG and negative MRI. The challenge of choosing appropriate antiseizure medications and finding a good epilepsy surgery candidate may help decide the prognosis. Knowing these variabilities will not only prepare us for the challenge but also highlights the importance of analyzing the electroclinical-imaging data in depth to be in concordance. This special issue of the Journal of Pediatric Epilepsy covers this enigma of focal versus generalized epilepsy. We bring together an expert panel of basic science neuroscientists, epileptologists, neuroradiologists, andneurosurgeonsto review and discuss some carefully selected topics. In this special edition, Onat and Eskazan tested the hypothesis whether the mechanisms underlying focal limbic epilepsy are distinctively diverse than those responsible for genetic generalized epilepsies (previously known as idiopathic generalized) by using a combination of electrophysiological, genetic, and pharmacological models in rats. Ahmad Marashly provided a detailed review on the use of the semiological classification coined by Lüders et al, which allows for accurate categorization, lateralization, and localization of epilepsy based solely on
在典型病例中,局灶性癫痫与全面性癫痫的诊断是精确的,而在其他病例中,我们看到这些癫痫中有许多重叠特征或非典型特征的变异性。广泛性癫痫和局灶性癫痫之间的不完全区分使其在我们的临床实践中具有挑战性。通过符号学、脑电图和神经影像学获得的临床信息对于诊断和治疗是必不可少的。在评估明显不同的局灶性癫痫和全身性癫痫时,我们面临不同的情况和实际挑战。局灶性癫痫和全身性癫痫的各种重叠特征、不同表现的癫痫综合征和其他癫痫样放电特征的存在可能代表局灶性癫痫和全身性癫痫之间的连续性。从局灶性癫痫活动发出的全身性癫痫样放电谱与磁共振成像(MRI)病变相一致,可以考虑一侧癫痫手术,同时认识全身性癫痫的局灶性临床和脑电图(EEG)特征,有助于选择合适的抗癫痫药物(aed),避免另一侧癫痫手术的不适当考虑。在其他具有挑战性的情况下,成像方式如脑磁图可能有助于区分继发性全身性癫痫放电和原发性全身性放电,以及在电临床数据不一致的情况下使用正电子发射断层扫描或寻找难以治疗的全身性癫痫的焦点。由于符号学特征不明确、脑电图不定位或不确定以及MRI阴性,这种局灶性和全身性癫痫的谜题进一步复杂化。选择合适的抗癫痫药物和找到一个好的癫痫手术候选人的挑战可能有助于决定预后。了解这些变量不仅将使我们为挑战做好准备,而且还强调了深入分析临床电成像数据以保持一致性的重要性。小儿癫痫杂志的这一期特刊涵盖了局灶性癫痫与全身性癫痫的这个谜题。我们汇集了一个由基础科学神经科学家、癫痫学家、神经放射学家和神经外科医生组成的专家小组来回顾和讨论一些精心挑选的主题。在这个特别版中,Onat和Eskazan在大鼠身上使用电生理、遗传和药理学模型,验证了局灶性边缘癫痫的机制是否与遗传性全身性癫痫(以前称为特发性全身性癫痫)的机制有明显不同的假设。Ahmad Marashly对l ders等人创造的符号学分类的使用进行了详细的回顾,该分类允许仅基于符号学特征对癫痫进行准确的分类,侧化和定位。Jayaram等人提供了几个不同情况的例子,其中继发性广泛性癫痫与原发性广泛性癫痫的局灶性发作仍然是一个谜。Assadsangabi等人通过深入研究局灶性癫痫和全身性癫痫的结构异常,讨论了用于评估癫痫的神经影像学模式和特征性影像学发现。Sannagowdara和Khan试图在抗局灶性和全面性癫痫发作的广泛范围内对可用的AED进行总体概述,并讨论了AED的适当选择及其含义,如应避免的药物和应考虑的最佳组合。作者最后讨论了精准医疗的未来所在。最后,
{"title":"Focal versus Generalized Epilepsy—An Enigma","authors":"M. Ilyas, U. Işık","doi":"10.1055/s-0041-1725992","DOIUrl":"https://doi.org/10.1055/s-0041-1725992","url":null,"abstract":"The diagnosis of focal versus generalized epilepsy can be precise in classic cases, and in other instances, we see many variabilities with overlapping features or atypical features in these epilepsies. This imperfect distinction between generalized and focal epilepsiesmakes it challenging in our clinical practice. The clinical information obtained through semiology, electroencephalography, and neuroimaging is essential for diagnostic and therapeutic purposes. There are different scenarios and practical challenges we face in evaluating distinctly diverse focal versus generalized epilepsy. The presence of various overlapping features of focal andgeneralizedepilepsies, differentmanifestationsofepilepsy syndrome, and other epileptiform discharges’ characteristics may represent a continuum between focal and generalized epilepsies. There is a spectrum with generalized appearing epileptiform discharges emanating from focal epileptic activity concordant with magnetic resonance imaging (MRI) lesion for consideration of epilepsy surgery on one side and the awareness of focal clinical and electroencephalographic (EEG) features in generalized epilepsy to help select appropriate antiepileptic drugs (AEDs) and avoid inappropriate consideration for epilepsy surgery on the other side. There are other challenging scenarios where imaging modalities such as magnetoencephalography may be useful in differentiating secondarygeneralizedepileptiformdischarges versusprimary generalized discharges and the use of positron emission tomography in case of nonconcordant electroclinical data or finding a focus in difficult-to-treat generalized epilepsy. This enigma of focal and generalized epilepsies is further compounded by challenging situations with unclear semiological features, nonlocalizing or inconclusive EEG and negative MRI. The challenge of choosing appropriate antiseizure medications and finding a good epilepsy surgery candidate may help decide the prognosis. Knowing these variabilities will not only prepare us for the challenge but also highlights the importance of analyzing the electroclinical-imaging data in depth to be in concordance. This special issue of the Journal of Pediatric Epilepsy covers this enigma of focal versus generalized epilepsy. We bring together an expert panel of basic science neuroscientists, epileptologists, neuroradiologists, andneurosurgeonsto review and discuss some carefully selected topics. In this special edition, Onat and Eskazan tested the hypothesis whether the mechanisms underlying focal limbic epilepsy are distinctively diverse than those responsible for genetic generalized epilepsies (previously known as idiopathic generalized) by using a combination of electrophysiological, genetic, and pharmacological models in rats. Ahmad Marashly provided a detailed review on the use of the semiological classification coined by Lüders et al, which allows for accurate categorization, lateralization, and localization of epilepsy based solely on ","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79571408","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
Carbamazepine-Induced Nonepileptic Myoclonus in a Child with Autism and Epilepsy 卡马西平诱导的非癫痫性肌阵挛患儿的自闭症和癫痫
IF 0.2 Pub Date : 2021-01-20 DOI: 10.1055/s-0040-1721731
S. Kırık, U. Yiş
Abstract This study deals with a child with different type of seizures several times in week and unresponsive to antiepileptic drugs. Distinguishing between epileptic seizure and motor tic in a patient diagnosed with epilepsy and autism can be challenging. In this study we presented a male child patient on carbamazepine (CBZ) therapy. In the first days of treatment seizure frequency decreased, but after CBZ treatment dosage reached 15 mg/kg/day (at the 25th day of the treatment), the patient presented to the clinic describing several episodes of myoclonus. There were no changes in electroencephalography during the myoclonus. In follow-up, myoclonus was not described after the cessation of CBZ.
摘要本研究涉及一名儿童,不同类型的癫痫发作在一周内多次,抗癫痫药物无反应。在被诊断为癫痫和自闭症的患者中,区分癫痫发作和运动性抽搐是具有挑战性的。在这项研究中,我们提出了一名男性儿童患者卡马西平(CBZ)治疗。在治疗的头几天癫痫发作频率下降,但在CBZ治疗剂量达到15mg /kg/天后(治疗的第25天),患者向诊所描述了几次肌阵挛发作。肌阵挛发作时脑电图无变化。在随访中,停止CBZ后未出现肌阵挛。
{"title":"Carbamazepine-Induced Nonepileptic Myoclonus in a Child with Autism and Epilepsy","authors":"S. Kırık, U. Yiş","doi":"10.1055/s-0040-1721731","DOIUrl":"https://doi.org/10.1055/s-0040-1721731","url":null,"abstract":"Abstract This study deals with a child with different type of seizures several times in week and unresponsive to antiepileptic drugs. Distinguishing between epileptic seizure and motor tic in a patient diagnosed with epilepsy and autism can be challenging. In this study we presented a male child patient on carbamazepine (CBZ) therapy. In the first days of treatment seizure frequency decreased, but after CBZ treatment dosage reached 15 mg/kg/day (at the 25th day of the treatment), the patient presented to the clinic describing several episodes of myoclonus. There were no changes in electroencephalography during the myoclonus. In follow-up, myoclonus was not described after the cessation of CBZ.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77761212","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: 2
Pediatric Epilepsy Surgery in Focal and Generalized Epilepsy: Current Trends and Recent Advancements 局灶性和广泛性癫痫的小儿癫痫手术:当前趋势和最新进展
IF 0.2 Pub Date : 2021-01-20 DOI: 10.1055/s-0040-1722298
W. B. Harris, H. Phillips, A. Fallah, G. Mathern
Abstract For a subset of children with medically intractable epilepsy, surgery may provide the best chances of seizure freedom. Whereas the indications for epilepsy surgery are commonly thought to be limited to patients with focal epileptogenic foci, modern imaging and surgical interventions frequently permit successful surgical treatment of generalized epilepsy. Resection continues to be the only potentially curative intervention; however, the advent of various neuromodulation interventions provides an effective palliative strategy for generalized or persistent seizures. Although the risks and benefits vary greatly by type and extent of intervention, the seizure outcomes appear to be uniformly favorable. Advances in both resective and nonresective surgical interventions provide promise for improved seizure freedom, function, and quality of life. This review summarizes the current trends and recent advancements in pediatric epilepsy surgery from diagnostic workup and indications through surgical interventions and postoperative outcomes.
对于顽固性癫痫患儿的一部分,手术可能提供最好的癫痫发作自由的机会。虽然癫痫手术的适应症通常被认为仅限于局灶性癫痫灶患者,但现代影像学和外科干预经常允许全身性癫痫的成功手术治疗。切除仍然是唯一可能治愈的干预措施;然而,各种神经调节干预措施的出现为全身性或持续性癫痫发作提供了有效的姑息策略。虽然风险和收益因干预类型和程度而有很大差异,但癫痫发作的结果似乎一致有利。切除和非切除手术干预的进展为改善癫痫发作自由、功能和生活质量提供了希望。本文综述了目前小儿癫痫手术的趋势和最新进展,从诊断检查和适应症到手术干预和术后结果。
{"title":"Pediatric Epilepsy Surgery in Focal and Generalized Epilepsy: Current Trends and Recent Advancements","authors":"W. B. Harris, H. Phillips, A. Fallah, G. Mathern","doi":"10.1055/s-0040-1722298","DOIUrl":"https://doi.org/10.1055/s-0040-1722298","url":null,"abstract":"Abstract For a subset of children with medically intractable epilepsy, surgery may provide the best chances of seizure freedom. Whereas the indications for epilepsy surgery are commonly thought to be limited to patients with focal epileptogenic foci, modern imaging and surgical interventions frequently permit successful surgical treatment of generalized epilepsy. Resection continues to be the only potentially curative intervention; however, the advent of various neuromodulation interventions provides an effective palliative strategy for generalized or persistent seizures. Although the risks and benefits vary greatly by type and extent of intervention, the seizure outcomes appear to be uniformly favorable. Advances in both resective and nonresective surgical interventions provide promise for improved seizure freedom, function, and quality of life. This review summarizes the current trends and recent advancements in pediatric epilepsy surgery from diagnostic workup and indications through surgical interventions and postoperative outcomes.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90908529","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
Establishment of First Afebrile Fit Telephone Clinic at Royal Berkshire Hospital, Reading, United Kingdom 在英国雷丁的皇家伯克郡医院建立第一个热风电话诊所
IF 0.2 Pub Date : 2021-01-06 DOI: 10.1055/s-0040-1721801
A. Khistriya, A. Aldouri, Catherine Hagan, S. Hughes, Tammy Ives, Rati Gill, Inés Baños, Georgina K. Carey
Abstract Children presenting with a suspected seizure are recommended to be seen by a specialist for the diagnosis and management of the epilepsies within 2 weeks of presentation. As part of the Royal College of Pediatrics and Child Health Quality Improvement Project, our project aim was to establish a first afebrile fit telephone clinic in line with The National Institute for Health and Care Excellence guidance. Our results showed safety information was poorly provided and retained at the initial consultation and a follow-up telephone call reinforced safety information and provided a point of contact for patients and families to use. The telephone follow-up also resulted in eight direct referrals into an epilepsy clinic. It is hoped the results from this project will act as a stepping stone to setting up a consultant-led first fit clinic.
摘要:儿童提出怀疑癫痫发作建议看由专家诊断和癫痫的管理2周内提出。作为皇家儿科学院和儿童健康质量改善项目的一部分,我们的项目目标是根据国家健康和护理卓越研究所的指导,建立第一个适合发烧的电话诊所。我们的研究结果表明,在最初的咨询中,安全信息的提供和保留很差,而后续的电话通话加强了安全信息,并为患者和家属提供了一个联络点。电话随访还导致8人直接转介到癫痫诊所。希望这个项目的结果将成为建立顾问主导的首次健康诊所的垫脚石。
{"title":"Establishment of First Afebrile Fit Telephone Clinic at Royal Berkshire Hospital, Reading, United Kingdom","authors":"A. Khistriya, A. Aldouri, Catherine Hagan, S. Hughes, Tammy Ives, Rati Gill, Inés Baños, Georgina K. Carey","doi":"10.1055/s-0040-1721801","DOIUrl":"https://doi.org/10.1055/s-0040-1721801","url":null,"abstract":"Abstract Children presenting with a suspected seizure are recommended to be seen by a specialist for the diagnosis and management of the epilepsies within 2 weeks of presentation. As part of the Royal College of Pediatrics and Child Health Quality Improvement Project, our project aim was to establish a first afebrile fit telephone clinic in line with The National Institute for Health and Care Excellence guidance. Our results showed safety information was poorly provided and retained at the initial consultation and a follow-up telephone call reinforced safety information and provided a point of contact for patients and families to use. The telephone follow-up also resulted in eight direct referrals into an epilepsy clinic. It is hoped the results from this project will act as a stepping stone to setting up a consultant-led first fit clinic.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2021-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84870750","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
期刊
Journal of Pediatric Epilepsy
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1