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Anti-N-Methyl-D-Aspartate Receptor Encephalitis after BNT162b2 COVID-19 Vaccination BNT162b2新冠肺炎疫苗接种后抗N-甲基-D-天冬氨酸受体脑炎
Pub Date : 2022-12-01 DOI: 10.14581/jer.220013
Hyoung Cheol Lee, Byung-Kun Kim, K. Kang, Woong-Woo Lee, Ilhan Yoo, Yong Soo Kim, Jung-Ju Lee
After the coronavirus disease 2019 (COVID-19) pandemic emerged, the development of vaccines was accelerated. Neurologic complications of COVID-19 vaccination had been reported, which included encephalitis. In this study, we report a very rare case of a female with anti-N-methyl-D-aspartate receptor encephalitis associated with ovarian teratoma that would be triggered by BNT162b2 m-RNA COVID-19 vaccination.
2019冠状病毒病(新冠肺炎)大流行出现后,疫苗的开发加快。报道了新冠肺炎疫苗接种的神经并发症,其中包括脑炎。在这项研究中,我们报告了一例非常罕见的女性抗N-甲基-D-天冬氨酸受体脑炎伴卵巢畸胎瘤的病例,该病例将由BNT162b2 m-RNA新冠肺炎疫苗接种引发。
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引用次数: 1
Dapsone Protects Against Lithium-Pilocarpine-Induced Status Epilepticus in Rats through Targeting Tumor Necrosis Factor-α and Nitrergic Pathway. 氨苯砜通过靶向肿瘤坏死因子-α和氮能通路,对锂-匹洛卡品诱导的大鼠癫痫持续状态有保护作用。
Pub Date : 2022-12-01 DOI: 10.14581/jer.22008
Amirhossein Koohfar, Faezeh Eslami, Maryam Shayan, Nastaran Rahimi, Farid Moradi, Hasti Tashak Golroudbari, Mehdi Ghasemi, Ahmad Reza Dehpour

Background and purpose: Status epilepticus (SE) results in permanent neuronal brain damage in the central nervous system. One of the complex etiologies underlying SE pathogenesis is neuroinflammation. Dapsone has been recently considered as a potential neuroprotective agent in neuroinflammatory conditions. Therefore, the present study aims to investigate effects of dapsone on lithium-pilocarpine-induced SE in rats and assess whether tumor necrosis factor-alpha (TNF-α) and nitric oxide (NO) pathway participate in this effect.

Methods: SE was established by injecting lithium chloride (127 mg/kg, intraperitoneally [i.p.]) and pilocarpine (60 mg/kg, i.p.). The animals received pre-treatment dapsone (2, 5, 10, and 20 mg/kg, oral gavage) and post-treatment dapsone (10 mg/kg). Subsequently, seizure score and mortality rate were documented. To assess the underlying signaling pathway, L-Nω-Nitro-L-arginine methyl ester hydrochloride (a non-specific NO synthase [NOS] inhibitor), 7-nitroindazole (a specific neuronal NOS inhibitor), and aminoguanidine (a specific inducible NOS inhibitor) were administered 15 minutes before dapsone (10 mg/kg) pre- or post-treatment. Hippocampal tissue TNF-α and NO concentrations were quantified using the enzyme-linked immunosorbent assay method.

Results: Dapsone (10 mg/kg) pre-and post-treatment significantly attenuated the increased seizure score and mortality rate due to lithium-pilocarpine-induced SE. The development of SE in animals was associated with higher TNF-α and NO metabolites levels, which notably decreased in the dapsone-treated rats. Moreover, co-administration of NOS inhibitors with dapsone markedly reversed the anti-epileptic effects of dapsone and caused an escalation in TNF-α level but a significant reduction in NO concentration level.

Conclusions: It seems that dapsone may exert an anti-epileptic effect on lithium-pilocarpine-induced SE through TNF-α inhibition and modulation of the nitrergic pathway.

背景与目的:癫痫持续状态(SE)可导致中枢神经系统永久性神经元脑损伤。SE发病的复杂病因之一是神经炎症。氨苯砜最近被认为是治疗神经炎症的潜在神经保护剂。因此,本研究旨在探讨氨苯砜对锂-匹罗卡品诱导的大鼠SE的影响,并评估肿瘤坏死因子-α (TNF-α)和一氧化氮(NO)途径是否参与了这种影响。方法:采用氯化锂(127 mg/kg,腹腔注射)和匹罗卡品(60 mg/kg,腹腔注射)建立SE。各组动物分别给予治疗前氨苯砜(2、5、10、20 mg/kg,灌胃)和治疗后氨苯砜(10 mg/kg)。随后记录癫痫发作评分和死亡率。为了评估潜在的信号通路,在氨苯砜(10 mg/kg)治疗前或治疗后15分钟给药l -n ω-硝基- l -精氨酸甲酯盐酸盐(非特异性NO合成酶[NOS]抑制剂)、7-硝基吲唑(特异性神经元NOS抑制剂)和氨基胍(特异性诱导型NOS抑制剂)。采用酶联免疫吸附法定量海马组织TNF-α和NO浓度。结果:10 mg/kg的氨苯砜治疗前后显著降低了锂-匹罗卡品引起的癫痫发作评分和死亡率。动物SE的发展与较高的TNF-α和NO代谢产物水平相关,在氨苯砜治疗的大鼠中显著降低。此外,NOS抑制剂与氨苯砜联合使用可显著逆转氨苯砜的抗癫痫作用,并导致TNF-α水平升高,但NO浓度水平显著降低。结论:氨苯砜可能通过抑制TNF-α和调节氮能通路,对锂-匹罗卡品诱导的SE发挥抗癫痫作用。
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引用次数: 0
Is Functional Connectivity after a First Unprovoked Seizure Different Based on Subsequent Seizures and Future Diagnosis of Epilepsy? 根据随后的癫痫发作和癫痫的未来诊断,第一次未发作后的功能连接是否不同?
Pub Date : 2022-12-01 DOI: 10.14581/jer.220011
Ga Eun Koo, H. Jeong, Y. Youn, Su-Hyun Han
Background and Purpose There are no highly sensitive biomarkers for epilepsy to date. Recently, promising results regarding functional connectivity analysis have been obtained, which may improve epilepsy diagnosis even in the absence of visible abnormality in electroencephalography. We aimed to investigate the differences in functional connectivity after a first unprovoked seizure between patients diagnosed with epilepsy within 1 year due to subsequent seizures and those who were not. Methods We compared quantitative electroencephalography power spectra and functional connectivity between 12 patients who were diagnosed with epilepsy (two or more unprovoked seizures) within 1 year and 17 controls (those not diagnosed within 1 year) using iSyncBrain® (iMediSync Inc., Suwon, Korea; https://isyncbrain.com/). In the source-level analysis, the current distribution across the brain was assessed using the standardized low-resolution brain electromagnetic tomography technique, to compare relative power values in 68 regions of interest and connectivity (the imaginary part of coherency) between regions of interest. Results In the epilepsy group, quantitative electroencephalography showed lower alpha2 band power in left frontal, central, superior temporal, and parietal regions and higher beta2 power in both frontal, central, temporal, occipital, and left parietal regions compared with the control group. Additionally, epilepsy patients had significantly lower connectivity in alpha2 and beta2 bands than the controls. Conclusions Patients experiencing their first unprovoked seizure presented different brain function according to whether they have subsequent seizures and future epilepsy. Our results propose the potential clinical ability to diagnose epilepsy after the first unprovoked seizure in the absence of interictal epileptiform discharges.
背景和目的迄今为止还没有高度敏感的癫痫生物标志物。最近,在功能连接分析方面取得了令人鼓舞的结果,这可能会在脑电图没有明显异常的情况下提高癫痫的诊断。我们的目的是研究在1年内诊断为癫痫的患者和未诊断为癫痫的患者在首次非诱发性癫痫发作后的功能连通性差异。方法采用iSyncBrain®(iMediSync Inc.,韩国水原)对12例1年内被诊断为癫痫(两次或两次以上非诱发性癫痫发作)患者和17例对照组(1年内未被诊断为癫痫的患者)的定量脑电图功率谱和功能连通性进行比较;https://isyncbrain.com/)。在源级分析中,使用标准化的低分辨率脑电磁断层扫描技术评估整个大脑的电流分布,以比较68个感兴趣区域的相对功率值和感兴趣区域之间的连通性(相干性的虚部)。结果癫痫组定量脑电图显示,与对照组相比,左额叶、中央、颞上和顶叶区α 2波功率较低,额叶、中央、颞叶、枕叶和左顶叶区α 2波功率较高。此外,癫痫患者在α 2和β 2波段的连通性明显低于对照组。结论首次非诱发性癫痫发作患者的脑功能根据是否有后续发作和未来癫痫发作而有所不同。我们的研究结果提出了潜在的临床能力,诊断癫痫后的第一次非诱发性发作,在没有癫痫样放电间期。
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引用次数: 0
Isolated Unilateral EEG Findings in Juvenile Myoclonic Epilepsy: A Case Report 青少年肌阵挛性癫痫孤立单侧脑电图1例报告
Pub Date : 2022-12-01 DOI: 10.14581/jer.220014
Merve Aktan Suzgun, V. Demirbilek
Juvenile myoclonic epilepsy (JME) has well-defined clinical and electrophysiological features. On the other hand, large case series have shown that focal and asymmetrical discharges may accompany generalized epileptiform activities in JME. Although it is known that these non-generalized electrophysiological findings do not exclude the diagnosis of this syndrome, some findings may create confusion in the differential diagnosis. In this case report, a case of JME with electroencephalographic findings characterized by isolated unilateral epileptiform activities without typical generalized discharges was discussed. The current case clinically presented with involuntary jerk movements in the bilateral upper extremities. It has been determined that these movements are uni/bilateral myoclonic beats based on home video recordings. Metabolic, toxic and structural problems were excluded in the investigations for the etiology of myoclonus. In the electrophysiological examination performed for epileptic processes, epileptiform discharges localized to the isolated right hemisphere were observed. JME was considered primarily due to clinical findings in the patient, and effective seizure control was achieved in a 4-year follow-up under anti-seizure treatment. The peculiarity of the case is the presence of electrophysiology recordings of isolated unilateral epileptiform activity during the 4-year follow-up period. It should be emphasized that there is no case of JME diagnosed with isolated unilateral epileptiform activity in the absence of generalized spike-slow waves or multiple spike-slow waves in the literature.
青少年肌阵挛性癫痫(JME)具有明确的临床和电生理特征。另一方面,大量病例系列表明,在JME中,局灶性和不对称放电可能伴随着广泛的癫痫样活动。尽管已知这些非全身性电生理学发现并不排除该综合征的诊断,但一些发现可能会在鉴别诊断中造成混乱。在本病例报告中,讨论了一例JME,其脑电图表现为孤立的单侧癫痫样活动,没有典型的全身性放电。目前的病例临床表现为双侧上肢不自主的急动。根据家庭录像,已经确定这些动作是单/双侧肌阵挛搏动。肌阵挛病因的研究排除了代谢、毒性和结构问题。在对癫痫过程进行的电生理检查中,观察到癫痫样放电局限于孤立的右半球。JME主要是由于患者的临床表现而被考虑的,并且在抗癫痫治疗的4年随访中实现了有效的癫痫控制。该病例的特点是在4年的随访期间存在孤立的单侧癫痫样活动的电生理记录。需要强调的是,在文献中没有普遍性棘波慢波或多发性棘波缓波的情况下,没有一例JME被诊断为孤立的单侧癫痫样活动。
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引用次数: 0
Evaluating the Role of Perilesional Tissue in Pathobiology of Epileptogenesis of Vascular Malformations of the Central Nervous System. 评估病灶周围组织在中枢神经系统血管畸形癫痫发生病理生物学中的作用。
Pub Date : 2022-12-01 DOI: 10.14581/jer.22010
R T Rajeswarie, H R Aravinda, A Arivazhagan, N Nandeesh Bevinahalli, Malla Bhaskara Rao, Anita Mahadevan

Background and purpose: Seizures are common presentation of cerebral vascular malformation (CVM). Topography and haemodynamic alterations are proposed as mechanisms for epileptogenesis, but the role of glial/neuronal alterations in perilesional tissue has not received much attention. Identification of the exact pathophysiologic basis could have therapeutic implications. To evaluate whether angioarchitectural factors of CVM or alterations in neuroglial/stroma of the adjacent cortex contribute to seizures.

Method: The clinical, imaging and histological characteristics of arteriovenous malformation (AVM) and cerebral cavernous malformation (CCM) with and without seizures was evaluated using neuroimaging imaging and digital subtraction angiography parameters and histopathology by morphology and immunohistochemistry.

Results: Fifty-six cases of CVM were diagnosed over a 2-year study period. Of these, 32 had adequate perilesional tissue for evaluation (AVM, 24; CCM, 8). Seizures at presentation was seen in 12/24 (50%) of AVM and 5/8 (62.5%) CCM. In AVM, hemosiderin deposition and gliosis in parenchyma (p=0.01) had significant association with seizure. Siderotic vessels in the adjacent cortex was exclusively seen only in CCM with seizures (p=0.018). Angioarchitectural features of CVM on imaging and neuronal alterations in adjacent cortex on histology failed to show any statistically significant difference between the two groups (p>0.05).

Conclusions: We propose that changes in adjacent cortex appear to be epileptogenic rather than the malformation per se. Reactive gliosis and hemosiderin deposits in perilesional tissue in AVM and siderotic vessels in CCM were associated with seizure. This explains the better outcomes following extended lesionectomy that includes epileptogenic perilesional tissues.

背景与目的:癫痫发作是脑血管畸形(CVM)的常见表现。地形和血流动力学改变被认为是癫痫发生的机制,但神经胶质/神经元改变在病变周围组织中的作用尚未得到太多关注。确定确切的病理生理基础可能具有治疗意义。评估CVM的血管构建因素或相邻皮质神经胶质/基质的改变是否与癫痫发作有关。方法:应用神经影像学和数字减影血管造影参数,结合形态学和免疫组织化学方法对伴有和不伴有癫痫发作的动静脉畸形(AVM)和脑海绵状血管瘤(CCM)的临床、影像学和组织学特征进行评价。结果:在2年的研究期间,诊断出56例CVM。其中32例有足够的病变周围组织进行评估(AVM, 24例;12/24(50%)的AVM和5/8(62.5%)的CCM在发病时出现癫痫发作。在AVM中,含铁血黄素沉积和实质胶质瘤与癫痫发作有显著相关性(p=0.01)。相邻皮质侧缩血管仅在癫痫发作的CCM中可见(p=0.018)。两组CVM影像学血管建筑学特征及相邻皮层组织学上神经元改变差异无统计学意义(p>0.05)。结论:我们认为邻近皮质的改变似乎是癫痫性的,而不是畸形本身。AVM的反应性胶质瘤和含铁血黄素沉积在病灶周围组织和CCM的含铁血黄素血管与癫痫发作有关。这解释了包括致痫性病变周围组织在内的扩展病变切除术的更好结果。
{"title":"Evaluating the Role of Perilesional Tissue in Pathobiology of Epileptogenesis of Vascular Malformations of the Central Nervous System.","authors":"R T Rajeswarie,&nbsp;H R Aravinda,&nbsp;A Arivazhagan,&nbsp;N Nandeesh Bevinahalli,&nbsp;Malla Bhaskara Rao,&nbsp;Anita Mahadevan","doi":"10.14581/jer.22010","DOIUrl":"https://doi.org/10.14581/jer.22010","url":null,"abstract":"<p><strong>Background and purpose: </strong>Seizures are common presentation of cerebral vascular malformation (CVM). Topography and haemodynamic alterations are proposed as mechanisms for epileptogenesis, but the role of glial/neuronal alterations in perilesional tissue has not received much attention. Identification of the exact pathophysiologic basis could have therapeutic implications. To evaluate whether angioarchitectural factors of CVM or alterations in neuroglial/stroma of the adjacent cortex contribute to seizures.</p><p><strong>Method: </strong>The clinical, imaging and histological characteristics of arteriovenous malformation (AVM) and cerebral cavernous malformation (CCM) with and without seizures was evaluated using neuroimaging imaging and digital subtraction angiography parameters and histopathology by morphology and immunohistochemistry.</p><p><strong>Results: </strong>Fifty-six cases of CVM were diagnosed over a 2-year study period. Of these, 32 had adequate perilesional tissue for evaluation (AVM, 24; CCM, 8). Seizures at presentation was seen in 12/24 (50%) of AVM and 5/8 (62.5%) CCM. In AVM, hemosiderin deposition and gliosis in parenchyma (<i>p</i>=0.01) had significant association with seizure. Siderotic vessels in the adjacent cortex was exclusively seen only in CCM with seizures (<i>p</i>=0.018). Angioarchitectural features of CVM on imaging and neuronal alterations in adjacent cortex on histology failed to show any statistically significant difference between the two groups (<i>p</i>>0.05).</p><p><strong>Conclusions: </strong>We propose that changes in adjacent cortex appear to be epileptogenic rather than the malformation per se. Reactive gliosis and hemosiderin deposits in perilesional tissue in AVM and siderotic vessels in CCM were associated with seizure. This explains the better outcomes following extended lesionectomy that includes epileptogenic perilesional tissues.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9830028/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10636662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Anti-N-Methyl-D-Aspartate Receptor Encephalitis after BNT162b2 COVID-19 Vaccination. BNT162b2疫苗接种后抗n -甲基- d -天冬氨酸受体脑炎
Pub Date : 2022-12-01 DOI: 10.14581/jer.22013
Hyoung Cheol Lee, Byung-Kun Kim, Kyusik Kang, Woong-Woo Lee, Ilhan Yoo, Yong Soo Kim, Jung-Ju Lee

After the coronavirus disease 2019 (COVID-19) pandemic emerged, the development of vaccines was accelerated. Neurologic complications of COVID-19 vaccination had been reported, which included encephalitis. In this study, we report a very rare case of a female with anti-N-methyl-D-aspartate receptor encephalitis associated with ovarian teratoma that would be triggered by BNT162b2 m-RNA COVID-19 vaccination.

2019冠状病毒病(COVID-19)大流行出现后,疫苗研发加快。已报道了COVID-19疫苗接种的神经系统并发症,包括脑炎。在本研究中,我们报告了一例非常罕见的女性抗n -甲基- d -天冬氨酸受体脑炎与卵巢畸胎瘤相关的病例,该病例将由BNT162b2 m-RNA COVID-19疫苗引发。
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引用次数: 0
Topiramate in an Experimental Model of Epilepsy - Similarity between Generic, Similar and Reference Drugs. 托吡酯在癫痫实验模型中的应用——仿制药、类似药和参比药的相似性。
Pub Date : 2022-06-30 eCollection Date: 2022-06-01 DOI: 10.14581/jer.22001
George Linard Silva Malveira, Sacha Aubrey Alves Rodrigues Santos, Gerlânia de Oliveira Leite, Gdayllon Cavalcante Meneses, Adriana Rolim Campos

Background and purpose: The literature is still controversial in relation to therapeutic differences between innovative, generic, and similar anti-seizures medications (ASM). Topiramate (TPM) is an ASM used in the treatment of various seizure types and in different epileptic syndromes, as well as in other groups of morbidities, and it is available in many generic and similar forms, besides the innovator. The aim of this translational work was to compare different brands of TPM by using animal models of seizures induced by pentylenetetrazole (PTZ).

Methods: Five brands of TPM (one reference, two similar and two generics) were tested in mice. Animals were previously treated with TPM (n=6/brand) and latencies from PTZ injection to onset of manifestations, first seizure and death were measured and compared between groups. Experiment was conducted in two settings: acute seizure model (PTZ 80 mg/kg) and kindling model (PTZ 20, 30, and 40 mg/kg in 8 alternate days).

Results: The experiment did not demonstrate significant differences between the TPM brands regarding the protective effect in the acute seizure and kindling models.

Conclusions: In conclusion, results can be explained by true therapeutic equivalence or insufficiency of the PTZ model to reveal differences among brands.

背景和目的:关于创新、通用和类似抗癫痫药物(ASM)之间的治疗差异,文献仍然存在争议。托吡酯(TPM)是一种ASM,用于治疗各种癫痫类型和不同的癫痫综合征,以及其他组的发病率,它有许多通用和类似的形式,除了创新。这项转化工作的目的是通过使用戊四唑(PTZ)诱发癫痫的动物模型来比较不同品牌的TPM。方法:对5个品牌的TPM(1个参比、2个同类、2个仿制)进行小鼠实验。动物先前接受TPM治疗(n=6/brand),测量PTZ注射到出现症状、首次发作和死亡的潜伏期,并比较各组之间的差异。实验分为急性发作模型(PTZ 80 mg/kg)和点火模型(PTZ 20、30、40 mg/kg,隔天8天)。结果:TPM品牌对急性发作模型和点火模型的保护作用无显著性差异。结论:综上所述,结果可以通过PTZ模型的真正治疗等效或不足来解释,以揭示品牌之间的差异。
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引用次数: 0
Epilepsy and Hearing Loss in a Patient with a Rare Heterozygous Variant in the CACNA1H Gene. 罕见的CACNA1H基因杂合变异患者的癫痫和听力损失。
Pub Date : 2022-06-30 eCollection Date: 2022-06-01 DOI: 10.14581/jer.22006
Hussein A Algahtani, Bader H Shirah, Ahmed Samman, Abdulellah Alhazmi

The calcium voltage-gated channel subunit alpha 1 H (CACNA1H) is a gene present in eukaryotic cells located on chromosome 16 that encodes the T-type calcium channels, which are important for calcium influx and depolarization of cells. Pathogenic variants in CACNA1H cause autosomal dominant susceptibility to idiopathic generalized epilepsy 6 (OMIM: 611942), which is a broad term that encompasses several common seizure phenotypes. In this article, we reported a Saudi female with a heterozygous variant in the CACNA1H gene (OMIM: 607904) who had epilepsy and hearing loss. This is the first case to report the association of epilepsy and hearing loss with a variant in CACNA1H. We believe that variant may be the reason for developing both epilepsy and sensorineural hearing loss. Further studies are needed to identify the role of CACNA1H in the physiology of the ear to allow for a better understanding of the effects of mutations. In children who present with early childhood hearing loss, genetic studies in highly selected cases including those with a strong family history of hearing loss and epilepsy may help detect a CACNA1H variant early and help with the early screening and diagnosis of other associated disorders including subclinical epilepsy.

钙电压门控通道亚单位α 1h (CACNA1H)是真核细胞中一个位于16号染色体上的基因,它编码t型钙通道,这对钙内流和细胞去极化很重要。CACNA1H的致病变异导致特发性全面性癫痫的常染色体显性易感性6 (OMIM: 611942),这是一个广泛的术语,包括几种常见的癫痫发作表型。在这篇文章中,我们报道了一名患有癫痫和听力损失的沙特女性CACNA1H基因杂合变异(OMIM: 607904)。这是首次报道癫痫和听力损失与CACNA1H变异相关的病例。我们认为这种变异可能是癫痫和感音神经性听力损失的原因。需要进一步的研究来确定CACNA1H在耳朵生理中的作用,以便更好地理解突变的影响。在患有早期儿童听力损失的儿童中,对高选择性病例(包括具有强烈的听力损失和癫痫家族史的病例)进行遗传研究可能有助于早期发现CACNA1H变异,并有助于早期筛查和诊断其他相关疾病,包括亚临床癫痫。
{"title":"Epilepsy and Hearing Loss in a Patient with a Rare Heterozygous Variant in the <i>CACNA1H</i> Gene.","authors":"Hussein A Algahtani,&nbsp;Bader H Shirah,&nbsp;Ahmed Samman,&nbsp;Abdulellah Alhazmi","doi":"10.14581/jer.22006","DOIUrl":"https://doi.org/10.14581/jer.22006","url":null,"abstract":"<p><p>The calcium voltage-gated channel subunit alpha 1 H (<i>CACNA1H</i>) is a gene present in eukaryotic cells located on chromosome 16 that encodes the T-type calcium channels, which are important for calcium influx and depolarization of cells. Pathogenic variants in <i>CACNA1H</i> cause autosomal dominant susceptibility to idiopathic generalized epilepsy 6 (OMIM: 611942), which is a broad term that encompasses several common seizure phenotypes. In this article, we reported a Saudi female with a heterozygous variant in the <i>CACNA1H</i> gene (OMIM: 607904) who had epilepsy and hearing loss. This is the first case to report the association of epilepsy and hearing loss with a variant in <i>CACNA1H</i>. We believe that variant may be the reason for developing both epilepsy and sensorineural hearing loss. Further studies are needed to identify the role of <i>CACNA1H</i> in the physiology of the ear to allow for a better understanding of the effects of mutations. In children who present with early childhood hearing loss, genetic studies in highly selected cases including those with a strong family history of hearing loss and epilepsy may help detect a <i>CACNA1H</i> variant early and help with the early screening and diagnosis of other associated disorders including subclinical epilepsy.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0d/af/jer-22006.PMC9289382.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40573408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Psychiatric Comorbidities in Epilepsy. 癫痫的精神合并症。
Pub Date : 2022-06-30 eCollection Date: 2022-06-01 DOI: 10.14581/jer.22004
Carlos Arteaga Rodríguez, Mariana Menine Kubis, Carlos Bruno Teixeira Arteaga, Otto Jesus Hernandez Fustes

Background and purpose: Psychiatric comorbidities (PC) occur more frequently in patients with epilepsy than in the general population. To determine the main PC associated with epilepsy and its association with demographic data and clinical features of epilepsy.

Methods: A retrospective study was carried out on patients with epilepsy at the Medical Specialties Center of the Municipal Health Department. Demographic data, crisis onset, time range of seizures evolution, type of epileptic seizures, types of epilepsy, etiology, brain injury, topographic location, hemispheric location, type of antiepileptic drugs (AEDs), use of monotherapy or polytherapy, control of epileptic seizures and the PC were recorded.

Results: One hundred forty adult patients were studied 51.4% male, mean age 44.9 years, time of evolution of the crises was 14 years, focal crisis 88.6%, mesial temporal sclerosis 42%, controlled 92.4%, monotherapy 66.1%, and the most used AEDs were carbamazepine (33.1%), valproic acid (28.2%), and phenobarbital (10.4%). The PC present in 67.1% of the patients was depression (22.8%), anxiety disorder (AD) (17.8%), psychosis (10%), dementia (9.2%) and bipolar affective disorder (BAD) (8.5%). The relationship between PC and crisis control was significant (p<0.009).

Conclusions: Schooling was lower than that reported in the general population in Brazil, and we found a low rate of unemployment or retirement. Epilepsy is associated with PC, the most frequent being depression, AD, psychosis, dementia and BAD. The absence of a relationship between depression and brain damage; anxiety disorder with education, types of epilepsy and etiology; psychosis with sex and time of epilepsy evolution were significant.

背景和目的:精神合并症(PC)在癫痫患者中比在一般人群中更常见。确定与癫痫相关的主要PC及其与癫痫人口统计学资料和临床特征的关系。方法:对市卫生厅医学专科中心收治的癫痫患者进行回顾性研究。记录人口统计学资料、危重发作、发作演变时间范围、癫痫发作类型、癫痫类型、病因、脑损伤、地理位置、半球位置、抗癫痫药物(aed)类型、单药或多药的使用、癫痫发作的控制情况和PC。结果:140例成人患者中男性占51.4%,平均年龄44.9岁,危机演变时间为14年,局灶性危机占88.6%,内侧颞叶硬化症占42%,对照占92.4%,单药治疗占66.1%,使用最多的AEDs为卡马西平(33.1%)、丙戊酸(28.2%)和苯巴比妥(10.4%)。67.1%的患者存在的PC是抑郁症(22.8%)、焦虑症(17.8%)、精神病(10%)、痴呆(9.2%)和双相情感障碍(8.5%)。PC与危机控制之间的关系是显著的(p结论:巴西的受教育程度低于一般人群的报告,我们发现失业率或退休率较低。癫痫与PC相关,最常见的是抑郁症、AD、精神病、痴呆和BAD。抑郁症和脑损伤之间没有关系;焦虑障碍与教育、癫痫类型和病因;精神病与性别、癫痫发展时间有显著性差异。
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引用次数: 4
Anti-Epileptic Drugs in Geriatric Neurosurgery: A Review of 669 Neurosurgical Cases. 抗癫痫药物在老年神经外科中的应用——附669例神经外科病例分析。
Pub Date : 2022-06-30 eCollection Date: 2022-06-01 DOI: 10.14581/jer.22005
Omar Al-Taei, Abdulrahman Al-Mirza, Humaid Al Kalbani, Mohammed Ali, Tariq Al-Saadi

Background and purpose: Patients over the age of 75 are more likely to develop epilepsy than children under the age of 10. Patients of all ages are prescribed anti-epileptic drugs; however, those over the age of 65 are the most typically prescribed group.

Methods: This is a retrospective study of geriatric cases admitted to the Neurosurgery Department in Khoula Hospital from January 1, 2016 to December 31, 2019. A medical records of 669 patients were identified. Patients' demographics, risk factors, usage of anti-epileptic drug (AED), type of tumor, tumor location, neuro-vital signs diagnosis, Glasgow coma scale on arrival, treatment types, and length of stay (LOS) were recorded.

Results: The prevalence of AEDs use was 19%. Patients with traumatic brain injury (TBI) were found to have a higher rate of using AEDs (32.1%) followed by patients with oncological and vascular pathologies, respectively (30.1% and 21.6%). There was a significant relationship between the utilization of AEDs among different neurological diseases investigated (p<0.05). Patients who received surgical interventions were using AEDs much more than patients with conservative management (p=0.001). There was a significant difference in the LOS and the usage of AEDs. Added to that, the results signify a relationship between the intensive care unit (ICU) admission and the utilization of AEDs in which the majority of the patients who were not on AEDs were not admitted to the ICU (p<0.05). Phenytoin was the most commonly used AED among different neurosurgical pathologies in the present study (n=110).

Conclusions: AEDs are used as prophylaxis to prevent seizures before most neurosurgical procedures and were commonly prescribed in TBI patients. Phenytoin was found to be the commonest AEDs utilized among the different neurosurgical categories followed by levetiracetam.

背景和目的:75岁以上的患者比10岁以下的儿童更容易患癫痫。所有年龄的患者都要服用抗癫痫药物;然而,65岁以上的人是最典型的处方群体。方法:对2016年1月1日至2019年12月31日在Khoula医院神经外科收治的老年病例进行回顾性研究。确定了669名患者的医疗记录。记录患者的人口统计学、危险因素、抗癫痫药物(AED)使用情况、肿瘤类型、肿瘤位置、神经生命体征诊断、到达时格拉斯哥昏迷评分、治疗类型、住院时间(LOS)。结果:aed使用率为19%。创伤性脑损伤(TBI)患者使用aed的比例最高(32.1%),其次是肿瘤患者(30.1%)和血管病变患者(21.6%)。不同神经系统疾病患者对aed的使用有显著相关性(pp=0.001)。在LOS和aed的使用方面存在显著差异。此外,结果表明重症监护病房(ICU)入院与使用aed之间存在关系,其中大多数未使用aed的患者未入住ICU(结论:aed在大多数神经外科手术前用于预防癫痫发作,并且通常用于TBI患者。苯妥英是不同神经外科类别中最常用的抗癫痫药,其次是左乙拉西坦。
{"title":"Anti-Epileptic Drugs in Geriatric Neurosurgery: A Review of 669 Neurosurgical Cases.","authors":"Omar Al-Taei,&nbsp;Abdulrahman Al-Mirza,&nbsp;Humaid Al Kalbani,&nbsp;Mohammed Ali,&nbsp;Tariq Al-Saadi","doi":"10.14581/jer.22005","DOIUrl":"https://doi.org/10.14581/jer.22005","url":null,"abstract":"<p><strong>Background and purpose: </strong>Patients over the age of 75 are more likely to develop epilepsy than children under the age of 10. Patients of all ages are prescribed anti-epileptic drugs; however, those over the age of 65 are the most typically prescribed group.</p><p><strong>Methods: </strong>This is a retrospective study of geriatric cases admitted to the Neurosurgery Department in Khoula Hospital from January 1, 2016 to December 31, 2019. A medical records of 669 patients were identified. Patients' demographics, risk factors, usage of anti-epileptic drug (AED), type of tumor, tumor location, neuro-vital signs diagnosis, Glasgow coma scale on arrival, treatment types, and length of stay (LOS) were recorded.</p><p><strong>Results: </strong>The prevalence of AEDs use was 19%. Patients with traumatic brain injury (TBI) were found to have a higher rate of using AEDs (32.1%) followed by patients with oncological and vascular pathologies, respectively (30.1% and 21.6%). There was a significant relationship between the utilization of AEDs among different neurological diseases investigated (<i>p</i><0.05). Patients who received surgical interventions were using AEDs much more than patients with conservative management (<i>p</i>=0.001). There was a significant difference in the LOS and the usage of AEDs. Added to that, the results signify a relationship between the intensive care unit (ICU) admission and the utilization of AEDs in which the majority of the patients who were not on AEDs were not admitted to the ICU (<i>p</i><0.05). Phenytoin was the most commonly used AED among different neurosurgical pathologies in the present study (n=110).</p><p><strong>Conclusions: </strong>AEDs are used as prophylaxis to prevent seizures before most neurosurgical procedures and were commonly prescribed in TBI patients. Phenytoin was found to be the commonest AEDs utilized among the different neurosurgical categories followed by levetiracetam.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e9/d3/jer-22005.PMC9289378.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40573410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
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Journal of epilepsy research
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