Journal of Pediatric Epilepsy最新文献_第6页

Case Report of 3-Phosphoglycerate Dehydrogenase Deficiency: A Baby with Severe Microcephaly, Psychomotor Delay, and Seizures 3-磷酸甘油酸脱氢酶缺乏一例:伴有严重小头畸形、精神运动迟缓和癫痫发作的婴儿

IF 0.2

Journal of Pediatric Epilepsy Pub Date : 2021-06-01 DOI: 10.1055/s-0041-1728646

Hafizah Salleh, Nahin Hussain, B. Rai

引用次数: 0

Norovirus Causes Pediatric Encephalopathy and Status Epilepticus: A Case Report and Review of the Literature 诺如病毒引起儿童脑病和癫痫持续状态:一例报告和文献回顾

IF 0.2

Journal of Pediatric Epilepsy Pub Date : 2021-03-23 DOI: 10.1055/s-0041-1725990

G. Tantillo, N. Kagita, Maite LaVega-Talbott, Anuradha Singh, D. Kaufman

引用次数: 1

The Benefits of Physical Activity in Children and Adolescents with Epilepsy: A Systematic Review 体育活动对儿童和青少年癫痫患者的益处:一项系统综述

IF 0.2

Journal of Pediatric Epilepsy Pub Date : 2021-03-10 DOI: 10.1055/s-0041-1725991

Loyane de Fátima Svierkovski, A. Stein, T. Cavazzotto, A. Paludo

{"title":"The Benefits of Physical Activity in Children and Adolescents with Epilepsy: A Systematic Review","authors":"Loyane de Fátima Svierkovski, A. Stein, T. Cavazzotto, A. Paludo","doi":"10.1055/s-0041-1725991","DOIUrl":"https://doi.org/10.1055/s-0041-1725991","url":null,"abstract":"Abstract The aim of this study was to review the literature about the effect of physical activity intervention in children and adolescents with epilepsy. Articles were searched in the central electronic databases of MEDLINE, Embase, PsycAriticles, and CINAHL for the following keywords: “epilepsy,” “seizure,” “physical activity,” “physical exercise,” “exercise therapy,” “sport,” using the Boolean operator “AND” and “OR.” The quality of the selected articles was evaluated by the Physiotherapy Evidence Database scale. Out of the 22 articles selected, 18 did not involve intervention or did not have pre- and postresults and therefore were excluded from the study. The remaining four were studies from Canada and Korea which comprised two long-period interventions and were included in the analysis. Both programs demonstrated a positive effect of physical activity on variables related to psychological well-being and cognitive function. All the four articles demonstrated a lower score of quality. In conclusion, reviewed studies suggest that physical exercise program induces some benefits in children and adolescents with epilepsy. However, the noncontrolled trials and the varied analyses (quantitative vs. qualitative) make it difficult to establish a consensus about benefits of physical activity in epilepsy.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"15 1","pages":"097 - 103"},"PeriodicalIF":0.2,"publicationDate":"2021-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91002528","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

A Case of Musicogenic Epilepsy 音乐源性癫痫1例

IF 0.2

Journal of Pediatric Epilepsy Pub Date : 2021-03-10 DOI: 10.1055/s-0041-1725993

A. Bhandari, M. Gourie‐Devi, Praveen Kumar, L. Khanna

引用次数: 0

Managing Status Epilepticus in a Child with Dravet Syndrome: How Difficult It Could Be? 管理癫痫持续状态的儿童与德拉韦综合征:它可能有多难?

IF 0.2

Journal of Pediatric Epilepsy Pub Date : 2021-02-19 DOI: 10.1055/s-0041-1723951

R. S. Badv, A. Ghamari, M. Ashrafi, Mahmoud Mohammadi, R. A. Malamiri, Morteza Heidari

{"title":"Managing Status Epilepticus in a Child with Dravet Syndrome: How Difficult It Could Be?","authors":"R. S. Badv, A. Ghamari, M. Ashrafi, Mahmoud Mohammadi, R. A. Malamiri, Morteza Heidari","doi":"10.1055/s-0041-1723951","DOIUrl":"https://doi.org/10.1055/s-0041-1723951","url":null,"abstract":"Abstract Previously known as severe myoclonic epilepsy of infancy, Dravet syndrome is characterized by febrile or afebrile prolonged hemiconvulsive seizures or generalized status epilepticus in an infant with previously normal development. Immediate management of status epilepticus is critical in these patients. Early control of status epilepticus prevents further brain damage; however, there is no consensus regarding the management of status epilepticus in children with Dravet syndrome, as many conventional antiseizure medications that are recommended in the management of status epilepticus worsen the seizures in these patients. A 2.5-year-old girl child patient was referred due to status epilepticus which was refractory to antiseizure medications. Sodium valproate, nitrazepam, ketogenic diet, intravenous phenytoin, and midazolam continuous infusion were administered. After controlling status epilepticus, the probable diagnosis of Dravet syndrome was proposed and confirmed by a mutation in SCN1A. As previously stated in numerous case reports, phenytoin worsens seizures in patients with Dravet syndrome. Therefore, it seems logical that in every infant with status epilepticus and probable Dravet syndrome, the practicing physician considers administering intravenous valproate or even midazolam continuous infusion instead of intravenous phenytoin.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":"50 1","pages":"128 - 134"},"PeriodicalIF":0.2,"publicationDate":"2021-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84623720","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

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

Journal of Pediatric Epilepsy Pub Date : 2021-02-19 DOI: 10.1055/s-0041-1722869

Shoba Jayaram, M. Alkhaldi, Asim M Shahid

{"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":"10 1","pages":"058 - 064"},"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

Journal of Pediatric Epilepsy 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

{"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":"88 1","pages":"124 - 127"},"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

Journal of Pediatric Epilepsy Pub Date : 2021-02-02 DOI: 10.1055/s-0040-1722297

Kumar Sannagowdara, N. Khan

{"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":"14 1","pages":"081 - 087"},"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

Journal of Pediatric Epilepsy Pub Date : 2021-02-02 DOI: 10.1055/s-0040-1722301

R. Assadsangabi, A. Ozturk, Trishna Kantamneni, Nazarin Azizi, S. Asaikar, L. Hacein-Bey

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

Journal of Pediatric Epilepsy Pub Date : 2021-02-02 DOI: 10.1055/s-0041-1722870

F. Onat, E. Eşkazan

{"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":"188 1","pages":"045 - 050"},"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