Pub Date : 2024-01-02DOI: 10.1186/s42494-023-00143-2
Imen Ketata, Emna Ellouz, Rahil Mizouri
{"title":"Impact of prenatal, neonatal, and postnatal factors on epilepsy risk in children and adolescents: a systematic review and meta-analysis","authors":"Imen Ketata, Emna Ellouz, Rahil Mizouri","doi":"10.1186/s42494-023-00143-2","DOIUrl":"https://doi.org/10.1186/s42494-023-00143-2","url":null,"abstract":"","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"25 5","pages":"1-15"},"PeriodicalIF":0.0,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139124792","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}
Pub Date : 2023-12-14DOI: 10.1186/s42494-023-00144-1
Gengyao Hu, Bi Wang, Beibei Chen, Zezhi Wang, Zejie Chen, Yonghong Liu
{"title":"Status epilepticus in patients with genetic generalized epilepsy: a case series study","authors":"Gengyao Hu, Bi Wang, Beibei Chen, Zezhi Wang, Zejie Chen, Yonghong Liu","doi":"10.1186/s42494-023-00144-1","DOIUrl":"https://doi.org/10.1186/s42494-023-00144-1","url":null,"abstract":"","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"397 2","pages":"1-7"},"PeriodicalIF":0.0,"publicationDate":"2023-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138974155","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}
Pub Date : 2023-12-01DOI: 10.1186/s42494-023-00140-5
A. Al-Attas, O. K. Alshehri, Abdulrahman G. Malhan, Hani M. Alabdaly, Osamah K. Alfentokh, A. Bawazir
{"title":"Knowledge, attitudes and practices of the Saudi population toward people with epilepsy: narrow or wide?","authors":"A. Al-Attas, O. K. Alshehri, Abdulrahman G. Malhan, Hani M. Alabdaly, Osamah K. Alfentokh, A. Bawazir","doi":"10.1186/s42494-023-00140-5","DOIUrl":"https://doi.org/10.1186/s42494-023-00140-5","url":null,"abstract":"","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"111 30","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138609344","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}
Pub Date : 2023-11-15DOI: 10.1186/s42494-023-00137-0
K. T. Sumadewi, Saktivi Harkitasari, David Christopher Tjandra
{"title":"Biomolecular mechanisms of epileptic seizures and epilepsy: a review","authors":"K. T. Sumadewi, Saktivi Harkitasari, David Christopher Tjandra","doi":"10.1186/s42494-023-00137-0","DOIUrl":"https://doi.org/10.1186/s42494-023-00137-0","url":null,"abstract":"","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"12 1","pages":"1-22"},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139275388","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}
Pub Date : 2023-11-13DOI: 10.1186/s42494-023-00139-y
Suli Zhang, Shuangzhu Lin, Wanqi Wang, Yuru Gan, Cui Wang, Bangtao Li, Qiming Pang
Abstract Background Developmental and epileptic encephalopathy (DEE) is a group of rare inherited disorders characterized by intellectual disability, delayed development, epileptic seizures, and other related symptoms. DEE44 is caused by mutations in the UBA5 gene, which encodes a ubiquitin-like protein involved in protein degradation and cell signaling. However, there is limited information on the genotype–phenotype correlation of DEE44, and its clinical features remain to be fully characterized. Case presentation We report a 12-month-old infant who presented with epileptic spastic seizures beginning at 4 months of age, accompanied by overall developmental delay, short stature, microcephaly, inability to hold his head upright, chasing vision, and high muscle tone in the extremities. Genetic findings showed compound heterozygous mutations of the UBA5 gene: NM_024818 c.562C > T(p.R188X) from the mother and NM_024818 c.214C > T(p.R72C) from the father. Conclusions This case report expands the clinical spectrum of DEE44 and highlights the importance of considering DEE44 in the differential diagnosis of developmental delay and epilepsy, even in the absence of classical symptoms suggestive of the condition. We hope that this case report will advance the understanding of DEE44 and improve the expertise of clinicians and early diagnose of this disease.
摘要背景发育性癫痫性脑病(Developmental and epileptic enceopathy, DEE)是一组以智力残疾、发育迟缓、癫痫发作及其他相关症状为特征的罕见遗传性疾病。DEE44是由UBA5基因突变引起的，UBA5基因编码一种泛素样蛋白，参与蛋白质降解和细胞信号传导。然而，DEE44的基因型-表型相关性信息有限，其临床特征仍有待充分表征。我们报告了一个12个月大的婴儿，他在4个月大时出现癫痫性痉挛发作，伴有整体发育迟缓，身材矮小，小头畸形，无法保持头部直立，追逐视力，四肢肌肉张力高。遗传结果显示，UBA5基因存在复合杂合突变:NM_024818 c.562C >T(p.R188X)来自母体和NM_024818 c.214C >T(p.R72C)来自父亲。本病例报告扩大了DEE44的临床范围，并强调了在发育迟缓和癫痫的鉴别诊断中考虑DEE44的重要性，即使在没有提示该病症的经典症状的情况下。我们希望这一病例报告能够促进对DEE44的认识，提高临床医生的专业知识和对该病的早期诊断。
{"title":"Developmental and epileptic encephalopathy 44 due to compound heterozygous variants in the UBA5 gene: a case report","authors":"Suli Zhang, Shuangzhu Lin, Wanqi Wang, Yuru Gan, Cui Wang, Bangtao Li, Qiming Pang","doi":"10.1186/s42494-023-00139-y","DOIUrl":"https://doi.org/10.1186/s42494-023-00139-y","url":null,"abstract":"Abstract Background Developmental and epileptic encephalopathy (DEE) is a group of rare inherited disorders characterized by intellectual disability, delayed development, epileptic seizures, and other related symptoms. DEE44 is caused by mutations in the UBA5 gene, which encodes a ubiquitin-like protein involved in protein degradation and cell signaling. However, there is limited information on the genotype–phenotype correlation of DEE44, and its clinical features remain to be fully characterized. Case presentation We report a 12-month-old infant who presented with epileptic spastic seizures beginning at 4 months of age, accompanied by overall developmental delay, short stature, microcephaly, inability to hold his head upright, chasing vision, and high muscle tone in the extremities. Genetic findings showed compound heterozygous mutations of the UBA5 gene: NM_024818 c.562C > T(p.R188X) from the mother and NM_024818 c.214C > T(p.R72C) from the father. Conclusions This case report expands the clinical spectrum of DEE44 and highlights the importance of considering DEE44 in the differential diagnosis of developmental delay and epilepsy, even in the absence of classical symptoms suggestive of the condition. We hope that this case report will advance the understanding of DEE44 and improve the expertise of clinicians and early diagnose of this disease.","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"49 9","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136281583","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}
Pub Date : 2023-11-01DOI: 10.1186/s42494-023-00138-z
Di Wu, Jinghui Liu, Liankun Ren
Abstract Stroke is the leading cause of neurological diseases globally. Remarkably, epilepsy is a common complication of stroke, which greatly impairs the quality of life of patients and poses a significant clinical challenge. Therefore, a better understanding of the risk factors for poststroke epilepsy is crucial. A recent study published in JAMA Neurology studied the brain network associated with poststroke epilepsy in a group of 76 patients compared to a cohort of 625 control patients using lesion mapping techniques. The results showed that negative functional connectivity between lesion locations and regions in the basal ganglia and cerebellum confers a higher risk of developing epilepsy after stroke. The lesion network nodes associated with epilepsy were identical across different lesion types including hematomas, traumas, tumors, and tubers. Furthermore, the poststroke epilepsy brain network has potential therapeutic relevance to deep brain stimulation (DBS). In a cohort of 30 patients, the functional connectivity between anterior thalamic DBS sites and the lesion network nodes was found to correlate with seizure control after DBS. In summary, the finding provides a novel method for predicting the risk of poststroke epilepsy in patients and may guide brain stimulation treatments for epilepsy.
{"title":"Identification of a common brain network associated with lesional epilepsy","authors":"Di Wu, Jinghui Liu, Liankun Ren","doi":"10.1186/s42494-023-00138-z","DOIUrl":"https://doi.org/10.1186/s42494-023-00138-z","url":null,"abstract":"Abstract Stroke is the leading cause of neurological diseases globally. Remarkably, epilepsy is a common complication of stroke, which greatly impairs the quality of life of patients and poses a significant clinical challenge. Therefore, a better understanding of the risk factors for poststroke epilepsy is crucial. A recent study published in JAMA Neurology studied the brain network associated with poststroke epilepsy in a group of 76 patients compared to a cohort of 625 control patients using lesion mapping techniques. The results showed that negative functional connectivity between lesion locations and regions in the basal ganglia and cerebellum confers a higher risk of developing epilepsy after stroke. The lesion network nodes associated with epilepsy were identical across different lesion types including hematomas, traumas, tumors, and tubers. Furthermore, the poststroke epilepsy brain network has potential therapeutic relevance to deep brain stimulation (DBS). In a cohort of 30 patients, the functional connectivity between anterior thalamic DBS sites and the lesion network nodes was found to correlate with seizure control after DBS. In summary, the finding provides a novel method for predicting the risk of poststroke epilepsy in patients and may guide brain stimulation treatments for epilepsy.","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"195 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135321618","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}
Pub Date : 2023-10-13DOI: 10.1186/s42494-023-00136-1
Alhamdu Adamu, Rui Chen, An Li, Guofang Xue
Abstract Epilepsy affects 50 million people worldwide. Nearly 80% of people with epilepsy live in resource-constrained low-income and middle-income countries. In Asia, which has a population of over 4 billion or has 50% of the world's population, about 23 million people have epilepsy. In this review, we discuss the difficulties in managing epilepsy in Asia due to the limited resources. The medical expense, limited access to treatment, premature mortality, health transitions from pediatric care to adult care, and the huge population size make it challenging for epilepsy management. Even though certain countries have access to highly innovative treatments, up to 90% of patients with epilepsy do not receive proper care due to limited resources. The insufficiency of research on epilepsy in most countries makes it difficult to obtain accurate data to analyze the progress of epilepsy management. However, the current influx of research studies, acceptance of the latest international practices, and funding will contribute a long way to closing treatment gaps in communities.
{"title":"Epilepsy in Asian countries","authors":"Alhamdu Adamu, Rui Chen, An Li, Guofang Xue","doi":"10.1186/s42494-023-00136-1","DOIUrl":"https://doi.org/10.1186/s42494-023-00136-1","url":null,"abstract":"Abstract Epilepsy affects 50 million people worldwide. Nearly 80% of people with epilepsy live in resource-constrained low-income and middle-income countries. In Asia, which has a population of over 4 billion or has 50% of the world's population, about 23 million people have epilepsy. In this review, we discuss the difficulties in managing epilepsy in Asia due to the limited resources. The medical expense, limited access to treatment, premature mortality, health transitions from pediatric care to adult care, and the huge population size make it challenging for epilepsy management. Even though certain countries have access to highly innovative treatments, up to 90% of patients with epilepsy do not receive proper care due to limited resources. The insufficiency of research on epilepsy in most countries makes it difficult to obtain accurate data to analyze the progress of epilepsy management. However, the current influx of research studies, acceptance of the latest international practices, and funding will contribute a long way to closing treatment gaps in communities.","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"2 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135855607","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}
Pub Date : 2023-10-13DOI: 10.1186/s42494-023-00135-2
Meiling Cai, Yanfei Zhao, He Wang, Shicheng Liu, Huiyi Jiang
Abstract Background Smith-Kingsmore syndrome (SKS) is a rare autosomal dominant disorder caused by de novo mutations of gene MTOR in most cases and germline mosaicism in a few cases. The first case of SKS was reported in 2013. The incidence of SKS remains unknown. The clinical manifestations of SKS are diverse, and common features are macrocephaly, intellectual disability, and seizures. Some patients with SKS have special facial features. Case presentation The case was a 5-month-old baby girl, who was admitted to the hospital for nystagmus, delayed development for 2 months, and intermittent convulsions for 2 days. The patient had a head circumference of 42 cm (+ 2SD), and showed facial deformity, low limb muscle tension, large areas of pigmentation, as well as mosaic patchy and strip-like pigment loss in her trunk and limbs. Meanwhile, her development was lagging behind peers. Physical examination did not reveal other abnormalities. She was diagnosed with SKS based on whole-exome sequencing combined with clinical symptoms and signs. She successively received treatment with adrenocorticotropic hormone, methylprednisolone sodium succinate, topiramate, levetiracetam, and zonisamide to reduce the number of convulsions in a short time, but drug resistance appeared thereafter. After combined treatment with multiple antiseizure medications, the patient still had seizures, but the amplitude of limb movement during the seizures was reduced compared to that before treatment. Conclusions This case expanded the phenotypic spectrum of SKS for diagnosis. We also review the related literature to promote the awareness, diagnosis, clinical management, and follow-up of SKS patients with MTOR mutations.
背景Smith-Kingsmore综合征(SKS)是一种罕见的常染色体显性遗传病，多数由MTOR基因的新生突变引起，少数由种系嵌合体引起。首例SKS病例于2013年报告。SKS的发病率尚不清楚。SKS的临床表现多种多样，常见的特征是大头畸形、智力障碍和癫痫发作。一些SKS患者有特殊的面部特征。病例为一名5个月大的女婴，因眼球震颤、发育迟缓2个月、间歇性惊厥2天入院。患者头围42 cm (+ 2SD)，面部畸形，下肢肌肉紧张，大面积色素沉着，躯干及四肢出现马赛克斑片状、条状色素丢失。与此同时，她的发展落后于同龄人。体格检查未发现其他异常。根据全外显子组测序并结合临床症状和体征，诊断为SKS。先后给予促肾上腺皮质激素、甲泼尼龙琥珀酸钠、托吡酯、左乙拉西坦、唑尼沙胺治疗，短时间内减少惊厥次数，但此后出现耐药。经多种抗癫痫药物联合治疗后，患者仍有癫痫发作，但癫痫发作时肢体运动幅度较治疗前有所降低。结论本病例扩大了SKS的表型谱，为诊断提供了依据。我们也回顾了相关文献，以提高对MTOR突变的SKS患者的认识、诊断、临床管理和随访。
{"title":"Smith-Kingsmore syndrome with nystagmus as the initial symptom","authors":"Meiling Cai, Yanfei Zhao, He Wang, Shicheng Liu, Huiyi Jiang","doi":"10.1186/s42494-023-00135-2","DOIUrl":"https://doi.org/10.1186/s42494-023-00135-2","url":null,"abstract":"Abstract Background Smith-Kingsmore syndrome (SKS) is a rare autosomal dominant disorder caused by de novo mutations of gene MTOR in most cases and germline mosaicism in a few cases. The first case of SKS was reported in 2013. The incidence of SKS remains unknown. The clinical manifestations of SKS are diverse, and common features are macrocephaly, intellectual disability, and seizures. Some patients with SKS have special facial features. Case presentation The case was a 5-month-old baby girl, who was admitted to the hospital for nystagmus, delayed development for 2 months, and intermittent convulsions for 2 days. The patient had a head circumference of 42 cm (+ 2SD), and showed facial deformity, low limb muscle tension, large areas of pigmentation, as well as mosaic patchy and strip-like pigment loss in her trunk and limbs. Meanwhile, her development was lagging behind peers. Physical examination did not reveal other abnormalities. She was diagnosed with SKS based on whole-exome sequencing combined with clinical symptoms and signs. She successively received treatment with adrenocorticotropic hormone, methylprednisolone sodium succinate, topiramate, levetiracetam, and zonisamide to reduce the number of convulsions in a short time, but drug resistance appeared thereafter. After combined treatment with multiple antiseizure medications, the patient still had seizures, but the amplitude of limb movement during the seizures was reduced compared to that before treatment. Conclusions This case expanded the phenotypic spectrum of SKS for diagnosis. We also review the related literature to promote the awareness, diagnosis, clinical management, and follow-up of SKS patients with MTOR mutations.","PeriodicalId":33628,"journal":{"name":"Acta Epileptologica","volume":"25 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135853074","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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