Journal of Pediatric Epilepsy最新文献_第2页

Self-limited Familial Neonatal Epilepsy due to the c.1589G > A Novel Pathogenic Variant in KCNQ2 : A Family Report c.1589G >一种新的KCNQ2致病变异所致的自限性家族性新生儿癫痫:一份家族报告

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Journal of Pediatric Epilepsy Pub Date : 2023-03-23 DOI: 10.1055/s-0043-1770794

Gunce Basarir, Ozge Ozer Kaya, Fatma Kusgoz, Nihal Olgac Dundar, P. Gençpınar

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Relationship Between Multiple Sclerosis and Spiritual Distress 多发性硬化症与精神痛苦的关系

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Journal of Pediatric Epilepsy Pub Date : 2023-03-10 DOI: 10.1055/s-0043-1764149

H. Çaksen

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SYNGAP1 Encephalopathy Presenting with a Phenotype of Epilepsy with Eyelid Myoclonia (Jeavons Syndrome) SYNGAP1脑病表现为癫痫伴眼睑肌阵挛(Jeavons综合征)的表型

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Journal of Pediatric Epilepsy Pub Date : 2023-03-03 DOI: 10.1055/s-0043-1762908

Wadih Baajour, Deepa Sirsi

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Safety and Tolerability of COVID-19 Vaccination in Adolescents and Young Adults with Epilepsy: A Multicenter Questionnaire Study 青少年和年轻癫痫患者接种COVID-19疫苗的安全性和耐受性:一项多中心问卷研究

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Journal of Pediatric Epilepsy Pub Date : 2023-03-01 DOI: 10.1055/s-0043-1770363

Yoshiyuki Kobayashi, N. Ishikawa, Yuichi Tateishi, Hiroki Izumo, Yuta Eguchi, Y. Fujii, H. Ono, S. Okada

{"title":"Safety and Tolerability of COVID-19 Vaccination in Adolescents and Young Adults with Epilepsy: A Multicenter Questionnaire Study","authors":"Yoshiyuki Kobayashi, N. Ishikawa, Yuichi Tateishi, Hiroki Izumo, Yuta Eguchi, Y. Fujii, H. Ono, S. Okada","doi":"10.1055/s-0043-1770363","DOIUrl":"https://doi.org/10.1055/s-0043-1770363","url":null,"abstract":"Abstract Background Coronavirus disease 2019 (COVID-19) is caused by severe acute respiratory syndrome coronavirus 2 and was first recorded in December 2019. COVID-19 became a pandemic involving almost all countries, including Japan. We evaluated the tolerability and safety of coronavirus vaccines in terms of seizures in adolescents and young adults with epilepsy (AYAWE). Methods We administered a questionnaire to AYAWE who visited the pediatrics departments of Hiroshima University Hospital, Hiroshima Prefectural Hospital, and Hiroshima City Funairi Citizens Hospital in January and February 2022. Tolerability and safety after immunization were assessed. Results In total, 114 vaccinations were delivered to 57 AYAWE aged 12 to 25 years (mean, 15 ± 3.1 years). Fifty-two (91.2%) experienced more than or equal to 1 adverse event postvaccination. The most commonly reported adverse events were fever (dose 1, 33.3%; dose 2, 73.7%) and fatigue (dose 1, 24.6%; dose 2, 50.9%). The incidences of headache (5.2 vs. 21.0%, p = 0.024), fever (33.3 vs. 73.7%, p < 0.001), and fatigue (24.6 vs. 50.9%, p = 0.004) differed significantly between the first and second doses. Only 5.2% of patients experienced transient seizure worsening, and only one patient reported a change in seizure semiology. Conclusion COVID-19 vaccines were well-tolerated in our cohort. The vaccines did not affect the number or manifestations of seizures. Similar to other illnesses, vaccination for COVID-19 can be administered to AYAWE without worsening their seizures.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82354812","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}

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Neonatal Status Epilepticus Secondary to Nonketotic Hyperglycinemia: Efficacy of Low-Dose Dextromethorphan 继发于非酮症性高血糖症的新生儿癫痫持续状态:低剂量右美沙芬的疗效

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Journal of Pediatric Epilepsy Pub Date : 2023-03-01 DOI: 10.1055/s-0043-1770052

S. Vila-Bedmar, Maite La-Vega Talbott

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Cerebellar Atrophy and Epilepsy in Twins with a Novel SCN8A Mutation 新型SCN8A突变双胞胎的小脑萎缩和癫痫

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Journal of Pediatric Epilepsy Pub Date : 2023-02-10 DOI: 10.1055/s-0043-1768657

I. Aleksandrova, A. Asenova, T. Todorov, S. Atemin, A. Maver, B. Peterlin, V. Mitev, A. Todorova, V. Bojinova

{"title":"Cerebellar Atrophy and Epilepsy in Twins with a Novel SCN8A Mutation","authors":"I. Aleksandrova, A. Asenova, T. Todorov, S. Atemin, A. Maver, B. Peterlin, V. Mitev, A. Todorova, V. Bojinova","doi":"10.1055/s-0043-1768657","DOIUrl":"https://doi.org/10.1055/s-0043-1768657","url":null,"abstract":"Abstract Purpose Pathogenic SCN8A variants are associated with a wide spectrum of clinical presentation, ranging from mild to severe epileptic phenotypes, cases of intellectual disability, or movement disorders without epilepsy. Ataxia and cerebellar atrophy are rarely described as components of the disease phenotype. Case Presentation We present the cases of male twins, born after normal pregnancy and delivery, both with normal neuropsychological but with delayed motor development in the first 2 years of life. Between 8 months and 9 years of age, the boys experienced generalized tonic-clonic seizures, several times per year. When 9 years old, the children suffered an increase in seizure frequency, and the family reported gradual worsening in coordination, speech, communication, and social skills. When 9 and a half years of age, the patients were admitted to the Clinic of Child Neurology for the first time. They both had coordination syndrome (intention tremor, dysmetria, dysdiadochokinesia) that had worsened compared with previous reports, and magnetic resonance imaging of the brain showed cerebellar atrophy. The genetic testing confirmed a mutation c.2617G > T, p.Gly873Cys in SCN8A gene. After adding lamotrigine to valproate and levetiracetam, and adjusting the dosage of valproate and levetiracetam, we observed good seizure control accompanied by improvement in the coordination syndrome. Conclusion The cerebellar atrophy in our patients is likely due to the underlying sodium channelopathy, as it was presented at the time of the seizure worsening, but we cannot exclude the role of the epileptic seizures as the worsening of the coordination syndrome accompanied the seizure aggravation, and the tendency toward improvement was evident after seizure control.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83389241","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}

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An Unusual Case of Progressive Myoclonic Epilepsy (PME): Familial Encephalopathy with Neuroserpin Inclusion Body (FENIB) 进行性肌阵挛性癫痫1例:家族性脑病伴神经丝素包涵体(FENIB)

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Journal of Pediatric Epilepsy Pub Date : 2023-02-06 DOI: 10.1055/s-0043-1769116

Debarup Das, U. Chakraborty, S. Dubey, Bhaswar Bhattacharya, A. Pandit

{"title":"An Unusual Case of Progressive Myoclonic Epilepsy (PME): Familial Encephalopathy with Neuroserpin Inclusion Body (FENIB)","authors":"Debarup Das, U. Chakraborty, S. Dubey, Bhaswar Bhattacharya, A. Pandit","doi":"10.1055/s-0043-1769116","DOIUrl":"https://doi.org/10.1055/s-0043-1769116","url":null,"abstract":"Abstract Progressive myoclonic epilepsy (PME) is a spectrum with epileptic encephalopathy and myoclonus. In this case report authors describe a young patient presenting with refractory multifocal myoclonus with multiple seizure types with dyscognitive features. He was bed-bound with complete dependency on his caregivers. His electroencephalogram had an encephalopathy pattern, and his magnetic resonance imaging showed gross cortical atrophy. In this patient, the working clinical diagnosis of epileptic encephalopathy with PME phenotype had a wide differential list including neuronal ceroid lipofuscinosis, Lafora body disease, sialidosis, myoclonic epilepsy with ragged red fibers, dentatorubro-pallidoluysian atrophy, Unverricht–Lundborg, and other rare disorders such as Gaucher's disease and other genetic causes. Eventually after ruling out all common etiologies, whole-exome sequencing revealed a SERPINI1 gene mutation in exon 9 showing a pathogenic variant c1175G > A (p.Gly392Glu) which associated with PME as a part of familial encephalopathy with neuroserpin inclusion bodies.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85425543","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}

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Contributing Reviewers in 2022 2022年投稿审稿人

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Journal of Pediatric Epilepsy Pub Date : 2023-01-30 DOI: 10.1055/s-0043-1761401

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Study on Effectiveness and Tolerability of Adjunctive Perampanel Treatment in Children with Refractory Epilepsy in a Tertiary Care Center 三级医疗中心辅助Perampanel治疗难治性癫痫患儿的疗效和耐受性研究

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Journal of Pediatric Epilepsy Pub Date : 2023-01-22 DOI: 10.1055/s-0043-1768658

V.K. Gowda, Jincy Thavalenga, R. C. Nanjundappa

{"title":"Study on Effectiveness and Tolerability of Adjunctive Perampanel Treatment in Children with Refractory Epilepsy in a Tertiary Care Center","authors":"V.K. Gowda, Jincy Thavalenga, R. C. Nanjundappa","doi":"10.1055/s-0043-1768658","DOIUrl":"https://doi.org/10.1055/s-0043-1768658","url":null,"abstract":"Abstract Background Nearly 30% of patients with epilepsy are refractory to currently available antiseizure drugs (ASDs). Although the U.S. Food and Drug Administration approved perampanel (PER) for patients as young as 4 years, there are limited data on using PER in children. Objective The aim of this study was to determine the efficacy and tolerability of adjunctive PER treatment in children with refractory epilepsy (RE). Methodology This prospective intervention study was conducted in the tertiary care center, in Bengaluru, India from December 2020 to May 2022. PER was added after the failure of a minimum of two ASDs and patients with 6 months follow-up. Treatment response was classified as complete, partial, or none with ≥90, ≥50, and <50% reduction in seizure frequency, respectively. Adverse events and discontinuation data were used to assess tolerability. Results Our cohort consisted of 100 cases, a mean age of 9.3 ± 3.8 years and male:female ratio of 3:1. The predominant seizure type was generalized seizures (74%), and concomitant enzyme-inducing ASD use was noted in 27%. Structural etiology was noted in 57%. A total of 76% of participants responded to PER therapy (46% complete response and 30% partial response), while 23% showed no response and 1% discontinued the treatment. Adverse events were observed in 25% of participants (11/25 [44%] drowsiness/sedation, 10/25 [40%] behavioral problems, and 4 [16%] other side effects). Early PER add-on provided a statistically significant benefit over late PER add-on ( p = 0.01). Response to PER did not differ significantly with the type of seizure and ASD used ( p > 0.05). Conclusion Adjunctive PER therapy is safe and effective for treating children with RE. An early add-on of PER is more beneficial in controlling seizures than a late add-on.","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78590655","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}

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Special Issue on Minimally Invasive Pediatric Epilepsy Surgery 微创小儿癫痫外科特刊

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Journal of Pediatric Epilepsy Pub Date : 2023-01-05 DOI: 10.1055/s-0042-1760414

J. Riviello, Irfan Ali, D. Curry

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