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The Dilemma of Choroidal Fissure Cyst and Seizure. 脉络膜裂囊肿与癫痫的困境。
Pub Date : 2020-06-30 eCollection Date: 2020-06-01 DOI: 10.14581/jer.20001
Tariq Al-Saadi
which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Editorial Journal of Epilepsy Research pISSN 2233-6249 / eISSN 2233-6257 The Dilemma of Choroidal Fissure Cyst and Seizure Tariq Al-Saadi, MD Department of Neurology & Neurosurgery, Faculty of Medicine, McGill University, Montreal, Canada; Department of Neurosurgery, Khoula Hospital, Muscat, Sultanate of Oman
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引用次数: 1
Epilepsy in Children with Tuberous Sclerosis Complex: A Prospective Observational Study in Bangladesh. 患有结节性硬化症的儿童癫痫:孟加拉国的一项前瞻性观察研究。
Pub Date : 2020-06-30 eCollection Date: 2020-06-01 DOI: 10.14581/jer.20004
Md Mizanur Rahman, Kanij Fatema

Background and purpose: Epilepsy is an important neurologic feature of patients with tuberous sclerosis complex (TSC). Most common seizure types are focal seizure and epileptic spasm. Seizure control often requires multiple antiepileptic drugs. This study has been done to evaluate the seizure types, electro-encephalography (EEG), neuroimaging features, and drug treatment of epilepsy in TSC.

Methods: This prospective observational study has been conducted on epilepsy patients with TSC at Bangabandhu Sheikh Mujib Medical University from 2011 to 2019.

Results: Seventy patients with a mean±standard deviation age of 5.64±3.96 years were identified and 57.1% were female. Most common type of seizure was focal seizure (46%). Epileptic spasm occurred in 17% of patients and all of them had seizure onset before 1 year. In 47% of patients EEG showed focal epileptic discharge; hypsarrhythmia was found in most of the patients with epileptic spasm. Majority of the patients needed more than one drug to control seizure. Only 34% of patients were seizure free for at least 12 months and 22.8% had drug resistant epilepsy.

Conclusions: This study highlights the pattern of seizure, treatment pattern, response to drug, and short-time outcome of children with TSC with epilepsy in a developing country like Bangladesh.

背景与目的:癫痫是结节性硬化症(TSC)患者的重要神经系统特征。最常见的发作类型是局灶性发作和癫痫性痉挛。控制癫痫发作通常需要多种抗癫痫药物。本研究对TSC患者癫痫发作类型、脑电图、神经影像学特征及药物治疗进行了评价。方法:对2011 - 2019年Bangabandhu Sheikh Mujib医科大学癫痫合并TSC患者进行前瞻性观察研究。结果:共发现70例患者,平均±标准差年龄5.64±3.96岁,其中女性占57.1%。最常见的癫痫类型是局灶性癫痫发作(46%)。17%的患者发生癫痫性痉挛,均在1年前发作。47%的患者脑电图显示局灶性癫痫放电;多数癫痫性痉挛患者伴有低心律失常。大多数患者需要一种以上的药物来控制癫痫发作。只有34%的患者至少12个月没有癫痫发作,22.8%的患者患有耐药癫痫。结论:本研究突出了孟加拉国等发展中国家TSC癫痫患儿的癫痫发作模式、治疗模式、药物反应和短期结局。
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引用次数: 3
Burden and Its Predictors among Caregivers of Patient with Epilepsy. 癫痫患者护理人员负担及其预测因素。
Pub Date : 2020-06-30 eCollection Date: 2020-06-01 DOI: 10.14581/jer.20005
Rita Pokharel, Prakash Poudel, Sami Lama, Kriti Thapa, Rambha Sigdel, Erina Shrestha

Background and purpose: Epilepsy is a chronic unpredictable debilitating condition. Epilepsy has great impacts not only on patients with epilepsies but also the persons around them. Burden among caregivers is understudied area. In view of the dearth of literature or studies focused on caregivers of children with epilepsy in Nepalese context, this study is expected to assess burden and its predictors among caregivers of children with epilepsy.

Methods: A total of 106 caregivers were interviewed using purposive sampling technique. The Zarit Burden Interview Scale short version was used to assess burden and Hospital Anxiety Depression Scale was used to assess anxiety and depression. Data were analysed using SPSS ver. 16.0. Chi-square test, multinomial logistic regression and linear regression analysis were done for analysis of inferential statistics to find out the predictors of burden.

Results: Majority of the caregivers (71.7%) were females and 64.2% of caregivers were mothers of children. Majority of responders (77.4%) were Hindus. Mild to moderate burden was found in 27.4% and high burden was found in 14.2% of the caregivers. Borderline anxiety, borderline depression, anxiety and depression were present in 7.5%, 8.5%, 6.6%, and 6.6% caregivers respectively. Burden was significantly higher in caregivers of epileptic children with poorly controlled seizure (p=0.003) and with co-morbidities (p=0.009). Similarly, burden score had significant positive correlation (p=0.001) with depression and significant negative correlation (p=0.005) with age of onset of epilepsy in children.

Conclusions: Burden, anxiety and depression are common problems in caregivers of children with epilepsy. Poorly controlled seizure, presence of associated comorbidities, younger age of onset of seizure in children and presence of depression in caregivers are the important factors that predict burden among caregivers of children with epilepsy.

背景和目的:癫痫是一种慢性、不可预测的衰弱性疾病。癫痫不仅对癫痫患者,而且对患者周围的人都有很大的影响。照顾者的负担是研究不足的领域。鉴于缺乏文献或研究聚焦于尼泊尔癫痫儿童照料者,本研究预计将评估癫痫儿童照料者的负担及其预测因素。方法:采用目的抽样法对106名护理人员进行访谈。负担评估采用Zarit负担访谈量表,焦虑抑郁评估采用医院焦虑抑郁量表。数据采用SPSS分析软件进行分析。16.0. 通过卡方检验、多项逻辑回归和线性回归分析进行推理统计分析,找出负担的预测因素。结果:照顾者以女性居多(71.7%),以儿童母亲居多(64.2%)。大多数应答者(77.4%)是印度教徒。轻度至中度负担占27.4%,重度负担占14.2%。7.5%、8.5%、6.6%和6.6%的照顾者存在边缘性焦虑、边缘性抑郁、焦虑和抑郁。癫痫发作控制不佳(p=0.003)和有合并症(p=0.009)的癫痫儿童的照料者负担明显更高。同样,负担评分与儿童抑郁呈显著正相关(p=0.001),与儿童癫痫发病年龄呈显著负相关(p=0.005)。结论:负担、焦虑和抑郁是癫痫患儿照料者普遍存在的问题。癫痫发作控制不佳、存在相关合并症、儿童癫痫发作年龄更小以及照顾者是否存在抑郁症是预测癫痫患儿照顾者负担的重要因素。
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引用次数: 17
Seizures and Epilepsy in Times of Corona Virus Disease 2019 Pandemic. 2019冠状病毒病大流行时期的癫痫发作和癫痫。
Pub Date : 2020-06-30 eCollection Date: 2020-06-01 DOI: 10.14581/jer.20002
Jasmine Parihar, Manjari Tripathi, Rajinder K Dhamija

The end of the year 2019 was marked by novel coronavirus (severe acute respiratory syndrome coronavirus-2, SARS-CoV-2) outbreak in China that rapidly spread to the rest of the world. While the involvement of the lower respiratory system causing pneumonia is identified as the primary target of the virus, extra-pulmonary manifestations, especially of the central nervous system, are also being increasingly reported. Previous research on Middle East respiratory syndrome coronavirus and SARS-CoV have shown neurological involvement in human coronavirus infections. While several cases of seizures have been reported in patients with coronavirus disease 2019 (COVID-19) patients, there is no specific data to suggest an association of COVID-19 with epilepsy. Epilepsy patients on immunosuppressive medications may have a higher risk of contracting the viral infection. There can be an indirect relation of COVID-19 to epilepsy as the viral infection is associated with fever in most COVID-19 cases, which can lower seizure threshold. Additionally, inadequate sleep and stress due to ongoing pandemic of coronavirus can be another trigger for seizure precipitation in epilepsy patients. Drug compliance, availability of antiepileptic drugs, and drug interactions with COVID-19 experimental drugs are major concerns in epilepsy patients. Adopting telemedicine services and the use of epilepsy helplines may be important in assisting epilepsy patients and ensuring that treatment continues uninterrupted.

2019年年底,中国爆发了新型冠状病毒(严重急性呼吸综合征冠状病毒-2,SARS-CoV-2),并迅速蔓延到世界其他地区。虽然下呼吸系统引起的肺炎被确定为该病毒的主要目标,但肺外表现,特别是中枢神经系统的表现也越来越多地被报道。先前对中东呼吸综合征冠状病毒和sars冠状病毒的研究表明,人类冠状病毒感染与神经系统有关。虽然在2019冠状病毒病(COVID-19)患者中报告了几例癫痫发作,但没有具体数据表明COVID-19与癫痫有关。服用免疫抑制药物的癫痫患者感染病毒的风险更高。COVID-19与癫痫可能存在间接关系,因为大多数COVID-19病例的病毒感染与发烧相关,这可以降低癫痫发作阈值。此外,持续的冠状病毒大流行导致的睡眠不足和压力可能是癫痫患者癫痫发作沉淀的另一个触发因素。药物依从性、抗癫痫药物的可获得性以及药物与COVID-19实验药物的相互作用是癫痫患者关注的主要问题。采用远程医疗服务和使用癫痫求助热线对于协助癫痫患者和确保不间断地继续治疗可能很重要。
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引用次数: 7
Eating Epilepsy in North India: Case Series and Its Management. 印度北部食性癫痫:病例系列及其管理。
Pub Date : 2019-12-31 eCollection Date: 2019-12-01 DOI: 10.14581/jer.19019
Pankaj Singh, Atma Ram Bansal, Aniruddha More, Susant Bhuyan, Arun Garg

Eating epilepsy is a rare form of reflex epilepsy where seizures are triggered by eating. We describe a case series of 12 such patients presenting to our epilepsy clinic based in North India. Eating epilepsy was noted to have male predominance with focal seizures with impaired awareness. Most of these patients had either temporal or perisylvian localization. Clobazam taken half an hour before meal was found to be an effective add-on therapy in its management.

进食性癫痫是一种罕见的反射性癫痫,发作是由进食引起的。我们描述了一个病例系列的12这样的病人提出我们的癫痫诊所设在北印度。进食性癫痫以男性为主,伴局灶性癫痫发作伴意识受损。这些患者大多有颞部或外侧壁的定位。饭前半小时服用氯巴唑是一种有效的辅助治疗方法。
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引用次数: 4
Parry-Romberg Syndrome and Temporal Lobe Refractory Epilepsy: Case Report. Parry-Romberg综合征和颞叶难治性癫痫:1例报告。
Pub Date : 2019-12-31 eCollection Date: 2019-12-01 DOI: 10.14581/jer.19020
A Velandia-Martínez, M A Ortega-Sanchez, S O Martínez-Perez, I Peña, O Pradilla, R Gomez, A Martínez-Perez

The Parry-Romberg syndrome (PRS), also known as hemifacial atrophy, is a rare neurocutaneous disease with the prevalence of 1/700,000 cases. It is more common in women than men, with an early onset of disease usually within the first two decades of life. Even though the etiology of PRS is unknown, it is thought to be a multifactorial disease that involves hereditary, posttraumatic, autoimmune, infectious, and neoplastic factors. There are a variety of systemic manifestations described in PRS including neurological conditions that range from intractable headache to refractory epilepsy. The manifestations must be identified in a timely manner to ensure an early therapeutic intervention, considering that an appropriate approach during the initial phase might halt the disease progression and markedly improve the quality of life in these patients. This article is aimed to describe the case of a 23 years old female with left hemifacial atrophy and dermatologic, dental, and neurologic compromise, associated with refractory temporal lobe epilepsy evidenced in neuroimaging and electrodiagnostic testings.

Parry-Romberg综合征(PRS),又称面神经萎缩症,是一种罕见的神经皮肤疾病,发病率为70万例之一。它在女性中比男性更常见,通常在生命的前20年发病。尽管PRS的病因尚不清楚,但它被认为是一种多因素疾病,涉及遗传、创伤后、自身免疫、感染和肿瘤因素。PRS有多种系统性表现,包括从顽固性头痛到难治性癫痫的神经系统疾病。考虑到在初始阶段采取适当的方法可能阻止疾病进展并显着改善这些患者的生活质量,必须及时确定其表现以确保早期治疗干预。这篇文章的目的是描述一个23岁的女性左半面萎缩和皮肤,牙科和神经系统的损害,与难治性颞叶癫痫相关的神经影像学和电诊断测试的证据。
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引用次数: 2
Surgical Prognostic Value of Epileptic Aura Based on History and Electrical Stimulation. 基于病史和电刺激的癫痫先兆的手术预后价值。
Pub Date : 2019-12-31 eCollection Date: 2019-12-01 DOI: 10.14581/jer.19013
Hye-Jin Moon, Chun Kee Chung, Sang Kun Lee

Background and purpose: We attempted to evaluate the surgical prognostic value of various types of aura in conjunction with the results of other presurgical evaluations in patients with an intracranial ictal onset zone confirmed by invasive studies and focal resection. We also attempted to determine how often the habitual auras could be elicited and to demonstrate the prognostic value of these stimulation-induced auras (SIAs).

Methods: We reviewed retrospectively the records of patients who had undergone intracranial electroencephalography evaluation and focal resective surgery for intractable partial epilepsy between 1995 and 2009. We identified the localizing value and prognostic value of the patients' auras. We correlated the resection of the area with SIA and surgical outcome.

Results: Aura was reported in 225 out of 300 patients. Patients with medial temporal lobe epilepsy (TLE) or occipital lobe epilepsy had a higher chance of having aura. The presence of aura, medial TLE, hippocampal sclerosis on pathology, focal lesions on magnetic resonance imaging (MRI), and ipsilateral abnormality on fluorodeoxyglucose-positron emission tomography were significantly correlated with seizure-free outcome. The presence of auditory aura, parietal lobe epilepsy, multifocal epilepsy, and dual pathology was associated with poor outcomes. Multivariate analysis revealed that auditory aura, multifocal epilepsy, hippocampal sclerosis, and lesion on MRI were prognostic factors for intractable partial epilepsy. SIA was observed in 29 out of the 134 patients who had habitual aura on history. The degree of complete resection of the area with SIA was not related to seizure-free outcome.

Conclusions: The presence of aura favors good surgical outcome and certain types of aura, such as auditory aura, have poor prognostic value. SIA, which was encountered in 21.6% of patients, was not related to seizure-free outcome.

背景和目的:我们试图评估不同类型先兆的手术预后价值,并结合其他手术前评估的结果,对有侵入性研究和局灶性切除证实的颅内起病区患者进行评估。我们还试图确定习惯性的光环可以被激发的频率,并证明这些刺激诱导的光环(SIAs)的预后价值。方法:回顾性分析1995 ~ 2009年顽固性部分性癫痫患者行颅内脑电图评估和局灶切除手术的资料。我们确定了患者气场的定位价值和预后价值。我们将该区域的切除与SIA和手术结果联系起来。结果:300例患者中有225例出现先兆。内侧颞叶癫痫(TLE)或枕叶癫痫患者出现先兆的几率较高。先兆、内侧TLE、病理上的海马硬化、磁共振成像(MRI)上的局灶性病变以及氟脱氧葡萄糖-正电子发射断层扫描上的同侧异常与无癫痫发作的结果显著相关。听觉先兆、顶叶癫痫、多灶性癫痫和双重病理的存在与不良预后相关。多因素分析显示,听觉先兆、多灶性癫痫、海马硬化和MRI病变是难治性部分性癫痫的预后因素。134例有习惯性先兆的患者中有29例出现SIA。SIA完全切除该区域的程度与无癫痫发作的结果无关。结论:先兆的存在有利于良好的手术效果,而某些类型的先兆,如听觉先兆,预后价值较差。21.6%的患者出现SIA,与无癫痫发作结果无关。
{"title":"Surgical Prognostic Value of Epileptic Aura Based on History and Electrical Stimulation.","authors":"Hye-Jin Moon,&nbsp;Chun Kee Chung,&nbsp;Sang Kun Lee","doi":"10.14581/jer.19013","DOIUrl":"https://doi.org/10.14581/jer.19013","url":null,"abstract":"<p><strong>Background and purpose: </strong>We attempted to evaluate the surgical prognostic value of various types of aura in conjunction with the results of other presurgical evaluations in patients with an intracranial ictal onset zone confirmed by invasive studies and focal resection. We also attempted to determine how often the habitual auras could be elicited and to demonstrate the prognostic value of these stimulation-induced auras (SIAs).</p><p><strong>Methods: </strong>We reviewed retrospectively the records of patients who had undergone intracranial electroencephalography evaluation and focal resective surgery for intractable partial epilepsy between 1995 and 2009. We identified the localizing value and prognostic value of the patients' auras. We correlated the resection of the area with SIA and surgical outcome.</p><p><strong>Results: </strong>Aura was reported in 225 out of 300 patients. Patients with medial temporal lobe epilepsy (TLE) or occipital lobe epilepsy had a higher chance of having aura. The presence of aura, medial TLE, hippocampal sclerosis on pathology, focal lesions on magnetic resonance imaging (MRI), and ipsilateral abnormality on fluorodeoxyglucose-positron emission tomography were significantly correlated with seizure-free outcome. The presence of auditory aura, parietal lobe epilepsy, multifocal epilepsy, and dual pathology was associated with poor outcomes. Multivariate analysis revealed that auditory aura, multifocal epilepsy, hippocampal sclerosis, and lesion on MRI were prognostic factors for intractable partial epilepsy. SIA was observed in 29 out of the 134 patients who had habitual aura on history. The degree of complete resection of the area with SIA was not related to seizure-free outcome.</p><p><strong>Conclusions: </strong>The presence of aura favors good surgical outcome and certain types of aura, such as auditory aura, have poor prognostic value. SIA, which was encountered in 21.6% of patients, was not related to seizure-free outcome.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b3/a5/jer-19013.PMC7251338.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38019985","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: 5
Clinical Relevance of Interictal Spikes in Tumor-Related Epilepsy: An Electrocorticographic Study. 肿瘤相关性癫痫发作间峰的临床相关性:一项皮质电图研究。
Pub Date : 2019-12-31 eCollection Date: 2019-12-01 DOI: 10.14581/jer.19015
Changik Lee, Woorim Jeong, Chun Kee Chung

Background and purpose: Although some surgeons utilize interictal spikes recorded via electrocorticography (ECoG) when planning extensive peritumoral resection in patients with tumor-related epilepsy, the association between interictal spikes and epileptogenesis has not been fully described. We investigated whether the resection of interictal spikes recorded by ECoG is associated with more favorable surgical outcomes in tumor-related epilepsy.

Methods: Of 132 patients who underwent epilepsy surgery for tumor-related epilepsy from 2006 to 2013, seven patients who underwent extraoperative ECoG were included in this study. In each patient, ECoG interictal spike sources were localized using standardized low-resolution brain electromagnetic tomography and were co-registered into a reconstructed brain model. Correspondence to the resection volume was estimated by calculating the percentage of interictal spike sources in the resection volume.

Results: All patients achieved gross total resection without oncological recurrence. Five patients achieved favorable surgical outcomes, whereas the surgical outcomes of two patients were unfavorable. Correspondence rates to the resection volume in the favorable and unfavorable surgical outcome groups were 44.6%±27.8% and 43.5%±22.8%, respectively (p=0.96). All patients had interictal spike source clusters outside the resection volume regardless of seizure outcome.

Conclusions: In these cases of tumor-related epilepsy, the extent of the resection of ECoG interictal spikes was not associated with postoperative seizure outcomes. Furthermore, the presence of interictal spike sources outside of the resection area was not related to seizure outcomes. Instead, concentrating more on the complete removal of the brain tumor appears to be a rational approach.

背景和目的:尽管一些外科医生在对肿瘤相关性癫痫患者进行肿瘤周围大范围切除时利用皮质电图(ECoG)记录的间期尖峰,但间期尖峰与癫痫发生之间的关系尚未得到充分描述。我们研究了ECoG记录的间期尖峰切除是否与肿瘤相关性癫痫的手术结果更有利相关。方法:选取2006 - 2013年收治的132例因肿瘤相关性癫痫而行癫痫手术的患者,其中7例患者行术外ECoG。在每个患者中,使用标准化的低分辨率脑电磁断层扫描定位ECoG间期尖峰源,并将其共同登记到重建的脑模型中。通过计算间隔尖峰源在切除体积中的百分比来估计与切除体积的对应关系。结果:所有患者均获得大体全切除,无肿瘤复发。5例患者手术效果良好,2例患者手术效果不佳。手术结果有利组和不利组与切除体积的对应率分别为44.6%±27.8%和43.5%±22.8% (p=0.96)。无论癫痫发作结果如何,所有患者在切除体积外均存在间期尖峰源簇。结论:在这些肿瘤相关性癫痫病例中,脑电图间期尖峰切除的程度与术后癫痫发作结果无关。此外,切除区域外的间期尖峰源的存在与癫痫发作结果无关。相反,更专注于完全切除脑肿瘤似乎是一种合理的方法。
{"title":"Clinical Relevance of Interictal Spikes in Tumor-Related Epilepsy: An Electrocorticographic Study.","authors":"Changik Lee,&nbsp;Woorim Jeong,&nbsp;Chun Kee Chung","doi":"10.14581/jer.19015","DOIUrl":"https://doi.org/10.14581/jer.19015","url":null,"abstract":"<p><strong>Background and purpose: </strong>Although some surgeons utilize interictal spikes recorded via electrocorticography (ECoG) when planning extensive peritumoral resection in patients with tumor-related epilepsy, the association between interictal spikes and epileptogenesis has not been fully described. We investigated whether the resection of interictal spikes recorded by ECoG is associated with more favorable surgical outcomes in tumor-related epilepsy.</p><p><strong>Methods: </strong>Of 132 patients who underwent epilepsy surgery for tumor-related epilepsy from 2006 to 2013, seven patients who underwent extraoperative ECoG were included in this study. In each patient, ECoG interictal spike sources were localized using standardized low-resolution brain electromagnetic tomography and were co-registered into a reconstructed brain model. Correspondence to the resection volume was estimated by calculating the percentage of interictal spike sources in the resection volume.</p><p><strong>Results: </strong>All patients achieved gross total resection without oncological recurrence. Five patients achieved favorable surgical outcomes, whereas the surgical outcomes of two patients were unfavorable. Correspondence rates to the resection volume in the favorable and unfavorable surgical outcome groups were 44.6%±27.8% and 43.5%±22.8%, respectively (<i>p</i>=0.96). All patients had interictal spike source clusters outside the resection volume regardless of seizure outcome.</p><p><strong>Conclusions: </strong>In these cases of tumor-related epilepsy, the extent of the resection of ECoG interictal spikes was not associated with postoperative seizure outcomes. Furthermore, the presence of interictal spike sources outside of the resection area was not related to seizure outcomes. Instead, concentrating more on the complete removal of the brain tumor appears to be a rational approach.</p>","PeriodicalId":73741,"journal":{"name":"Journal of epilepsy research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/89/32/jer-19015.PMC7251339.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38019987","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: 3
Antiepileptic Drugs Usage in Pregnant Women with Epilepsy in Saudi Arabia. 沙特阿拉伯孕妇癫痫患者抗癫痫药物的使用。
Pub Date : 2019-12-31 eCollection Date: 2019-12-01 DOI: 10.14581/jer.19014
Hussein Algahtani, Bader Shirah, Faisal Alkahtani, Khalid Alrefaei, Abdulrahman Alamri, Ahmed Aldarmahi

Background and purpose: Epilepsy is one of the most common neurological disorders requiring continuous treatment during pregnancy. In Saudi Arabia, there is only one publication that studied the outcome of pregnancies in women with epilepsy, published in 1999. The aim of the study is to determine the major congenital malformations in infants resulting from exposure to antiepileptic drugs in pregnant women with epilepsy.

Methods: This is a retrospective observational study that was conducted at King Abdulaziz Medical City, Jeddah, Saudi Arabia, involving pregnant women with epilepsy using antiepileptic drugs during pregnancy. We also studied babies born to those mothers. The study period was 5 years from 2014 to 2018.

Results: Six hundred babies were included in the study, born to 154 mothers with epilepsy using antiepileptic drugs during pregnancy. In addition, there were 111 losses of fetuses before 20 weeks of gestation. The only malformation detected was a ventricular septal defect in one child, whose mother was using polytherapy (valproic acid and levetiracetam). Three babies were born with epilepsy, and four babies had other associated disorders (Down syndrome, osteoporosis, esotropia, and hearing impairment).

Conclusions: The results of this small study are an urgent call for the establishment of congenital malformations registry in Saudi Arabia. In addition, specialized epilepsy clinics utilizing multidisciplinary care are highly recommended. A specific group of interest for such clinics are married women, who have epilepsy and are using antiepileptic drugs since planning of pregnancy is not part of the culture in Saudi Arabia.

背景和目的:癫痫是妊娠期间最常见的需要持续治疗的神经系统疾病之一。在沙特阿拉伯,只有1999年出版的一份出版物研究了患有癫痫的妇女怀孕的结果。该研究的目的是确定癫痫孕妇暴露于抗癫痫药物导致的婴儿主要先天性畸形。方法:这是一项回顾性观察性研究,在沙特阿拉伯吉达阿卜杜勒阿齐兹国王医疗城进行,涉及妊娠期间使用抗癫痫药物的癫痫孕妇。我们还研究了这些母亲所生的婴儿。研究期为2014年至2018年的5年。结果:研究纳入了600名婴儿,其中154名患有癫痫的母亲在怀孕期间使用抗癫痫药物。此外,在妊娠20周之前有111例胎儿丢失。唯一检测到的畸形是一个孩子的室间隔缺损,他的母亲正在使用综合治疗(丙戊酸和左乙拉西坦)。3名婴儿出生时患有癫痫,4名婴儿患有其他相关疾病(唐氏综合症、骨质疏松症、内斜视和听力障碍)。结论:这项小型研究的结果迫切呼吁在沙特阿拉伯建立先天性畸形登记处。此外,强烈建议利用多学科护理的专门癫痫诊所。这些诊所特别关注的群体是已婚妇女,她们患有癫痫,正在使用抗癫痫药物,因为在沙特阿拉伯,计划怀孕不是文化的一部分。
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引用次数: 1
SCN8A Mutation in Infantile Epileptic Encephalopathy: Report of Two Cases. 小儿癫痫性脑病SCN8A突变:附2例报告
Pub Date : 2019-12-31 eCollection Date: 2019-12-01 DOI: 10.14581/jer.19017
Kanij Fatema, Md Mizanur Rahman, Omar Faruk

Early infantile epileptic encephalopathy type 13 is a severe form of epilepsy caused by mutations in the sodium channel 8 alpha (SCN8A) gene. This gene encodes the neuronal voltage-gated sodium channel which plays vital role in neuronal excitability. Here we present two cases with SCN8A encephalopathy. Both cases had mutation in p.Arg1872Gin the SCN8A gene, which was detected by targeted next generation sequencing. Case 1 was a 14-month old boy, who had a normal birth history with normal development up to 6 months and then developed repeated generalized seizure, which was nonresponsive to multiple antiepileptic drugs. He also had neuroregression and dystonia. His electroencephalogram (EEG) showed progressive background abnormality with burst suppression pattern. His metabolic panel was normal and had partial response to carbamazepine. The second case was for an 11-month old boy with the onset of seizure at the age of 7 months. Seizure was generalized, resistant to multiple antiepileptic drugs. He had developmental delay from beginning, no movement disorder. EEG showed focal discharge from left temporal and occipital region. He showed partial response to oxcarbazepine. Our cases had similarities with the previously reported cases. The detailed discussion of our cases would contribute to early detection and targeted treatment of SCN8A encephalopathy. This also gives special emphasis on a genetic test in infants with intractable epilepsy, movement disorder and developmental delay.

早期婴儿癫痫性脑病13型是一种由钠通道8 α (SCN8A)基因突变引起的严重癫痫。该基因编码在神经元兴奋性中起重要作用的电压门控钠通道。我们在此报告两例SCN8A脑病。这两个病例都有p.a arg1872gin (SCN8A基因)突变,通过靶向下一代测序检测到。病例1为14个月大的男婴,出生史正常,6个月前发育正常,后反复出现全身性癫痫发作,对多种抗癫痫药物无反应。他还有神经退化和肌张力障碍。他的脑电图显示进行性背景异常,伴有脉冲抑制模式。代谢指标正常,对卡马西平有部分反应。第二个病例是一名11个月大的男孩,在7个月大时癫痫发作。癫痫发作全身性,对多种抗癫痫药物耐药。他从一开始就发育迟缓,没有运动障碍。脑电图显示左侧颞枕区局灶性放电。他对奥卡西平有部分反应。我们的病例与以前报道的病例有相似之处。对我们病例的详细讨论将有助于SCN8A脑病的早期发现和靶向治疗。这也特别强调对患有顽固性癫痫、运动障碍和发育迟缓的婴儿进行基因检测。
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引用次数: 1
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Journal of epilepsy research
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