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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
IF 0.2 Pub Date : 2023-03-23 DOI: 10.1055/s-0043-1770794
Gunce Basarir, Ozge Ozer Kaya, Fatma Kusgoz, Nihal Olgac Dundar, P. Gençpınar
Abstract Self-limited familial neonatal epilepsy is an autosomal dominant epileptic syndrome characterized by episodes of seizures occurring in the first days of life. Most patients have heterozygous mutations of KCNQ2 gene located on 20q13. A variety of clinical phenotypes have been associated with KCNQ2 mutations, making the prediction of this rare entity difficult. Herein, we report a rare KCNQ2 variant in two siblings with self-limited familial neonatal epilepsy. The siblings had tonic seizures accompanied by clonic jerks in the first few days after birth. Genetic analysis of the siblings revealed a heterozygous KCNQ2 variant: c.1589G > A; (p.Ser530Asn). The identical variant subsequently was identified in the mother. To our knowledge, this variant has not been previously reported in individuals with KCNQ2 -related disease. This is the first report that reveals c.1589G > A variant of KCNQ2 gene as a pathogenic variant in two siblings.
自限性家族性新生儿癫痫是一种常染色体显性癫痫综合征,其特征是在出生后的头几天发生癫痫发作。大多数患者存在位于20q13的KCNQ2基因杂合突变。多种临床表型与KCNQ2突变相关,这使得预测这种罕见的实体变得困难。在此,我们报告了两个患有自限性家族性新生儿癫痫的兄弟姐妹中罕见的KCNQ2变异。这对兄弟姐妹在出生后的最初几天出现强直性癫痫发作并伴有阵挛性抽搐。兄弟姐妹遗传分析显示一个杂合的KCNQ2变异:c.1589G > a;(p.Ser530Asn)。随后在母亲身上发现了相同的变异。据我们所知,这种变异在KCNQ2相关疾病患者中尚未报道。这是首次报道在两个兄弟姐妹中发现c.1589G > A变异的KCNQ2基因是致病变异。
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引用次数: 0
Relationship Between Multiple Sclerosis and Spiritual Distress 多发性硬化症与精神痛苦的关系
IF 0.2 Pub Date : 2023-03-10 DOI: 10.1055/s-0043-1764149
H. Çaksen
Multiple sclerosis
多发性硬化症
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引用次数: 0
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
IF 0.2 Pub Date : 2023-03-03 DOI: 10.1055/s-0043-1762908
Wadih Baajour, Deepa Sirsi
A 10-year-oldgirlwas evaluated for developmental delayand constipation at age 15 months and was subsequently diagnosed with intellectual disability and autism spectrum dis-order at 2 years. There was no family history of epilepsy or cognitive impairment. She had signi fi cant self-injurious behavior and aggression. Magnetic resonance imaging at age 18 months was normal. At age of 4 years, she had seizure onset with multiple daily episodesofstaringandeye fl utter.Electroencephalogram(EEG) showed eye closure induced generalized spike and wave dis-charges with associated eyelid myoclonia ( ► Video 1 ), absence seizures,andphotoparoxysmalresponse, fi ndingssuggestiveof Epilepsy with Eyelid Myoclonia (EEM). 2 Interictal EEG also showed bi-occipital spikes which could represent fragments of generalized spikes. Antiseizure medications tried included levetiracetam, topiramate, valproic acid, ethosuximide, and cannabidiol. Seizures persisted but there was a reduction of seizures with cannabidiol and ethosuximide. She was treated with clonidine and sertraline for aggression and self-injurious behavior.
一名10岁女孩在15个月大时被评估为发育迟缓和便秘,随后在2岁时被诊断为智力障碍和自闭症谱系障碍。没有癫痫或认知障碍的家族史。她有明显的自残行为和攻击性。18个月时磁共振成像正常。4岁时,患者癫痫发作,每日多次出现凝视和眼球震颤,脑电图显示闭眼引起的全身性峰状放电和波状放电,并伴有眼睑肌阵挛(►视频1)、失神性发作和光性发作小反应,提示癫痫合并眼睑肌阵挛(EEM)。2间期脑电图也显示双枕尖峰,可能代表广义尖峰的片段。抗癫痫药物包括左乙拉西坦、托吡酯、丙戊酸、乙砜胺和大麻二酚。癫痫发作持续存在,但大麻二酚和乙砜胺减少了癫痫发作。她因攻击性和自残行为接受了可乐定和舍曲林治疗。
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引用次数: 0
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
IF 0.2 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
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.
背景2019冠状病毒病(COVID-19)是由严重急性呼吸综合征冠状病毒2型引起的新型冠状病毒,于2019年12月首次记录。COVID-19成为包括日本在内的几乎所有国家的大流行。我们评估了冠状病毒疫苗在青少年和年轻癫痫患者(AYAWE)癫痫发作方面的耐受性和安全性。方法对于2022年1月和2月访问广岛大学医院、广岛市立医院和广岛市船井市民医院儿科的AYAWE进行问卷调查。评估免疫后的耐受性和安全性。结果共为57例12 ~ 25岁的AYAWE(平均15±3.1岁)接种了114次疫苗。52例(91.2%)在接种疫苗后发生了1次以上或等于1次的不良事件。最常见的不良反应是发热(剂量1,33.3%;剂量2,73.7%)和疲劳(剂量1,24.6%;剂量2,50.9%)。头痛(5.2 vs. 21.0%, p = 0.024)、发热(33.3 vs. 73.7%, p < 0.001)和疲劳(24.6 vs. 50.9%, p = 0.004)的发生率在第一次和第二次剂量之间有显著差异。只有5.2%的患者经历了短暂性癫痫发作恶化,只有1例患者报告了癫痫发作符号学的改变。结论COVID-19疫苗在我们的队列中耐受性良好。疫苗对癫痫发作的次数和表现没有影响。与其他疾病类似,AYAWE患者可以接种COVID-19疫苗,而不会加重癫痫发作。
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引用次数: 0
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
IF 0.2 Pub Date : 2023-03-01 DOI: 10.1055/s-0043-1770052
S. Vila-Bedmar, Maite La-Vega Talbott
Abstract Nonketotic hyperglycinemia is a severe form of early onset epileptic encephalopathy caused by disturbances in the glycine cleavage system, leading to neurological damage attributed to overstimulation of the N-methyl-D-aspartate receptor. Although there are no interventions known to be effective in altering the natural history of nonketotic hyperglycinemia, it is very important that the clinician recognizes this disease and initiates early evaluation and treatment to attain the best possible outcome. Here we present a newborn diagnosed with a severe form of nonketotic hyperglycinemia with frequent myoclonic seizures, which were resistant to phenobarbital, levetiracetam, ketogenic diet, sodium benzoate, and perampanel. Dextromethorphan reduced epileptic myoclonic jerks and improved the background activity on the electroencephalogram.
非酮症型高甘氨酸血症是由甘氨酸裂解系统紊乱引起的一种严重的早发性癫痫性脑病,由于n -甲基- d -天冬氨酸受体的过度刺激而导致神经损伤。虽然目前还没有干预措施可以有效地改变非酮症高血糖症的自然史,但临床医生认识到这种疾病并开始早期评估和治疗以获得最佳可能的结果是非常重要的。在这里,我们提出了一个新生儿诊断为严重形式的非酮症高血糖症,频繁的肌阵挛性发作,这是耐苯巴比妥,左乙曲坦,生酮饮食,苯甲酸钠,和perampanel。右美沙芬减少癫痫性肌阵挛性抽搐,改善脑电图背景活动。
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引用次数: 0
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
IF 0.2 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
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.
致病性SCN8A变异与广泛的临床表现相关,从轻度到重度癫痫表型,智力残疾病例或无癫痫的运动障碍。共济失调和小脑萎缩很少被描述为疾病表型的组成部分。我们报告了一对正常怀孕和分娩后出生的男性双胞胎,他们的神经心理正常,但在生命的前2年运动发育迟缓。在8个月至9岁之间,男孩经历全身性强直阵挛发作,每年数次。当孩子9岁时,癫痫发作频率增加,家庭报告在协调、言语、沟通和社交技能方面逐渐恶化。9岁半时,患者第一次住进儿童神经病学诊所。与之前的报道相比,他们都患有协调综合征(意图性震颤、节律障碍、运动障碍),并且大脑磁共振成像显示小脑萎缩。基因检测证实SCN8A基因c.2617G > T, p.Gly873Cys突变。在丙戊酸钠和左乙拉西坦的基础上加入拉莫三嗪,并调整丙戊酸钠和左乙拉西坦的剂量后,我们观察到癫痫发作控制良好,并伴有协调综合征的改善。结论本组患者的小脑萎缩可能是由于潜在的钠通道病变引起的,因为它是在癫痫发作加重时出现的,但我们不能排除癫痫发作的作用,因为协调综合征的恶化伴随着癫痫发作的加重,而癫痫控制后改善的趋势明显。
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引用次数: 0
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)
IF 0.2 Pub Date : 2023-02-06 DOI: 10.1055/s-0043-1769116
Debarup Das, U. Chakraborty, S. Dubey, Bhaswar Bhattacharya, A. Pandit
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.
进行性肌阵挛性癫痫(PME)是一种癫痫性脑病和肌阵挛的频谱。在这个案例中,报告作者描述了一个年轻的患者,表现为难治性多局灶性肌阵挛,并伴有多种癫痫发作类型和认知障碍特征。他卧床不起,完全依赖照顾他的人。脑电图表现为脑病型,核磁共振显示皮质严重萎缩。本例患者PME表型癫痫性脑病的临床有效诊断鉴别范围很广,包括神经元样脂褐质病、拉福拉体病、唾液增多症、红色纤维粗糙的肌阵挛性癫痫、齿状体-苍白球萎缩症、Unverricht-Lundborg,以及其他罕见疾病如戈谢病和其他遗传原因。最终,在排除了所有常见病因后,全外显子组测序显示,第9外显子serini1基因突变显示致病变异c1175G > a (p.Gly392Glu),该变异与PME作为家族性脑病的一部分与神经丝氨酸蛋白包涵体相关。
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引用次数: 0
Contributing Reviewers in 2022 2022年投稿审稿人
IF 0.2 Pub Date : 2023-01-30 DOI: 10.1055/s-0043-1761401
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引用次数: 0
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
IF 0.2 Pub Date : 2023-01-22 DOI: 10.1055/s-0043-1768658
V.K. Gowda, Jincy Thavalenga, R. C. Nanjundappa
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.
背景近30%的癫痫患者对现有抗癫痫药物(asd)难以治愈。尽管美国食品和药物管理局批准perampanel (PER)用于4岁以下的患者,但在儿童中使用PER的数据有限。目的探讨PER辅助治疗小儿难治性癫痫(RE)的疗效和耐受性。该前瞻性干预研究于2020年12月至2022年5月在印度班加罗尔的三级保健中心进行。在至少两例asd和患者6个月随访失败后添加PER。治疗反应分为完全、部分或无(≥90、≥50和0.05)。结论PER辅助治疗儿童RE安全有效,早期加用比晚期加用更有利于控制癫痫发作。
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引用次数: 0
Special Issue on Minimally Invasive Pediatric Epilepsy Surgery 微创小儿癫痫外科特刊
IF 0.2 Pub Date : 2023-01-05 DOI: 10.1055/s-0042-1760414
J. Riviello, Irfan Ali, D. Curry
{"title":"Special Issue on Minimally Invasive Pediatric Epilepsy Surgery","authors":"J. Riviello, Irfan Ali, D. Curry","doi":"10.1055/s-0042-1760414","DOIUrl":"https://doi.org/10.1055/s-0042-1760414","url":null,"abstract":"","PeriodicalId":42559,"journal":{"name":"Journal of Pediatric Epilepsy","volume":null,"pages":null},"PeriodicalIF":0.2,"publicationDate":"2023-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86019147","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
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