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find Keyword "癫痫性脑病" 24 results
  • DNM1基因变异所致发育性癫痫性脑病一例

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  • Advances in the neurobiology and clinical diagnosis and treatment of hereditary developmental epileptic encephalopathies

    Developmental epileptic encephalopathies (DEEs) are a group of disorders characterized by early-onset seizures, abnormal electroencephalogram (EEG) patterns, and developmental delay or regression. They are characterized by complex etiology and are often refractory to treatment, severely impacting affected children, particularly infants and toddlers, and pose a challenge in pediatric neurology. In recent years, with the rise of precision medicine, an increasing number of pathogenic genes associated with DEEs have been discovered. However, the specific pathogenic mechanisms and signaling pathways of these genes in the body still require further investigation. This article primarily discusses the genetic patterns of DEEs and the selection of genetic testing, emphasizing the timing of genetic testing assisted by the epilepsy phenotype, especially in DEEs associated with single-gene mutations and new therapeutic drugs, to aid in clinical decision-making for DEEs. It also introduces the use of neurobiological models for DEE research to effectively advance epilepsy research, thereby enabling targeted gene therapy.

    Release date:2024-05-08 08:43 Export PDF Favorites Scan
  • 突触融合蛋白结合蛋白 1 基因与癫痫性脑病的研究进展

    癫痫性脑病(Epileptic encephalopathy,EE)是一类由难治性癫痫极度异常脑电活动导致的脑部疾病。近年来随着分子遗传学的进步,越来越多的研究表明突触融合蛋白结合蛋白 1(Synaptotagmin binding protein 1, STXBP1)基因突变与 EE 有关。文章对 EE 的病因及病理生理学机制进行综述,从而提高临床医生对 EE 的认识,并探讨将 STXBP1 作为靶点治疗 EE 的可能性,为临床治疗 EE 提供依据和指导。

    Release date:2018-09-18 10:17 Export PDF Favorites Scan
  • Dravet综合征——从癫痫性脑病到离子通道病

    编码电压门控钠通道α1亚单位(α1 subunit of the voltage gated sodium channel, SCN1A)的基因突变与多种癫痫综合征相关, 包括相对较轻的家族性全身性癫痫伴热性惊厥附加症(Genetic epilepsy with febrile seizures plus, GEFS+), 到严重的婴儿发病的Dravet综合征。已有证据显示, 大脑中不同神经元网络中SCN1A功能障碍的指向一个离子通道病模型, 使得Dravet综合征的神经科特征超越了单纯的发作相关损伤。基因改变的临床表型会随着其严重程度、个体的基因背景, 以及环境因素的不同而不同, 并且会根据离子通道的分布影响一系列神经元网络。原本就脆弱的系统可能很容易继发恶性事件, 如癫痫持续状态。离子通道模型预示着药物治疗并修复受损的γ-氨基丁酸(γ-aminobutyric acid, GABA)能神经传递也许不仅能预防癫痫发作, 还能治疗合并症。原综述研究关于在Dravet综合征中SCN1A突变的致病性, 及其对更广泛疾病表型的影响的最新证据, 并讨论了对这些特殊基因型的认识是否能影响临床实践。基因技术正在以前所未有的速度发展着, 将增加人们关于新的基因和基因间相互作用网络的知识。临床医生和遗传学家必将密切合作, 以保证基因测试结果能得到很好的解释和咨询服务

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  • PIGO基因变异相关发育性癫痫性脑病不伴碱性磷酸酶增高一例并文献复习

    Release date:2024-11-20 10:50 Export PDF Favorites Scan
  • DNM1 gene pathogenic variation in 3 cases with early infantile epileptic encephalopathy-31 and Literature review

    ObjectiveTo explore the clinical, genetic and prognostic features of early infantile epileptic encephalopathy caused by DNM1 gene pathogenic variations.MethodsClinical phenotype, genotype and prognosis of 3 individuals with de novo variants in DNM1 gene were analyzed retrospectively. Through using “Dynamin-1” or “DNM1” as key words to search literature at database of China National Knowledge Infrastructure, Wanfang, PubMed and OMIM. Genotype-phenotype correlations were analyzed by analysis of variance (ANOVA).ResultAmong the 3 patients, 1 female and 2 males. 2 cases with epileptic spasm and 1 case with focal clonic seizure or secondary generalized tonic-clonic seizure were manifested with onset age from 2 to 17 months. De novo variants at NM_004408.4: c.415 G>A(P. Gly 139Arg) in 2 inviduals and NM_004408.4: c.545 C>A(P. Ala 182Asp)in 1 invidual of DNM1 gene were identified by gene testing. After follow-up at age of 2~3 years, all patients were presented with hypotonia, severe intellectual disability, non-verbal, non-ambulatory, drug-resistant epilepsy and feeding difficulties. 36 cases with pathogenic DNM1 variants were reported by far, totally 39 cases were included. Of the 39 patients, hypotonia were found to be independent of the locus of genetic variants, while those inviduals with variants in the GTPase and middle domains almost presented severe or profound intellectual disability and epilepsy. 31 patients diagnosed with epilepsy and complete clinical data were further analyzed, epileptic spasm was the most common types of seizure. Absent seizure was significantly more common in those patients with variants in the GTPase domains (P=0.02), compared to those patients with variants in the middle domains. No statistical differences were found in gender, onset age, other types of seizure and drug treatment response between variants in the GTPase and middle domains.ConclusionHypotonia, early onset epilepsy, severe intellectual and movement disability were the common features in patients with DMN1 related encephalopathy. Epileptic spasm was the most common types of seizure, no significant differences were found in the phenotype between the GTPase and middle domains expect for absent seizure. Our patients also presented with feeding difficulties.

    Release date:2021-04-25 09:50 Export PDF Favorites Scan
  • 吡哆醇(胺)氧化酶缺乏的研究进展

    吡哆醇(胺)氧化酶(Pyridox(am)ine-5-phosphate oxidase, PNPO)缺乏是一种由编码PNPO的PNPO基因突变引起的罕见常染色体隐性遗传的先天性代谢缺陷, 其典型临床表现是新生儿癫痫性脑病, 抗癫痫药物治疗无效, 磷酸吡哆醛或吡哆醇可改善症状, 目前尚无特异性生物化学标志物, 确诊需要检测PNPO基因。PNPO缺乏作为一种可治疗的潜在病因, 应包含在大田原综合征和新生儿肌阵挛性脑病的鉴别诊断中。未经磷酸吡哆醛或吡哆醇治疗的PNPO缺乏患儿可导致早期死亡, 而早期正确治疗者神经发育可正常。

    Release date:2016-10-02 06:51 Export PDF Favorites Scan
  • 热性感染相关性癫痫综合征的诊治研究进展

    热性感染相关性癫痫综合征(Febrile infection-related epilepsy syndrome,FIRES)是近年来逐渐被人们认识的最严重癫痫性脑病之一,主要特征是急性热性疾病后数天出现难治性癫痫持续状态或成簇癫痫发作,并随即演变为局灶性发作为主的药物难治性癫痫和认知损害等神经心理学障碍。FIRES的病因和发病机制尚不完全清楚,可能是一种免疫性但不是自身免疫性疾病。其诊断主要依据其临床特征和排除其他相关性疾病,治疗十分困难,预后不良。但FIRES的早期诊断至关重要,可以指导治疗,尤其是选择最佳的一线治疗,有助于改善预后。

    Release date:2017-11-27 02:36 Export PDF Favorites Scan
  • Clinical electrophysiological features of cyclin-dependent kinase-like 5 gene induced developmental epileptic encephalopathy

    ObjectiveTo investigate the clinical electrophysiological characteristics of Cyclin-dependent kinase-like 5 gene induced developmental epileptic encephalopathy (CDKL5-DEE). MethodsThe clinical data and series of video EEGs of children with CDKL5-associated developmental epileptic encephalopathy (CDKL5-DEE) who were admitted to the Children’s Medical Center of Peking University First Hospital from June 2016 to May 2024 were retrospectively analyzed. Results A total of 16 patients with CDKL5-DEE were enrolled, including 13 females and 3 males. All patients had de novo variants of CDKL5 gene, including 6 cases of missense variants, 5 cases of frameshift variants, 4 cases of nonsense variants, and 1 case of large fragment deletion. The age of onset was 8 days (d) after birth ~1 year (y) and 10 months (m), and the median age was (85.94±95.76) days. Types of seizures at onset: 4 cases of tonic seizures [age of onset 10~52 days, median age (25.5±15.84) days]; There were 5 cases of focal seizures [age of onset 8 d~8 m, median age (77.76±85.97) d]. There were 4 cases of epileptic spasmodic seizures [age of onset 3 m~1 y 10 m, median age (6.25±3.49) m]; There were 2 cases of bilateral tonic-clonic seizures [age of onset 30~40 days, median age (35.00±5.00) days]; focal concurrent epileptic spasm seizures 1 case (age of onset 2 m). A total of 59 VEEG sessions were performed in the pediatric EEG room of Peking University First Hospital for 4 hours. All the results were abnormal, including 26 normal background, 25 slow rhythm difference with background, and 8 no background. The interictal was 16 posterior or focal discharges, 19 multifocal discharges, 17 generalized or accompanied by focal/multifocal discharges, and 7 hypsarrhythmia; The ictal was 33 epileptic seizures, 6 myoclonic seizures, 5 focal seizures, 2 tonic-clonic seizures, 2 atypical absence seizures, 2 tonic seizures, 1 myoclonic sequential focal seizure, 1 focal sequential epileptic spasm, and 1 hypermotor-tonic-spasms. The background of patients within 6 months of age was normal, and the background abnormality increased significantly with age. generalized discharges are evident after 2 years of age between seizures. Conclusion CDKL5-DEE seizures have an early onset and are refractory to medications. Epileptic spasms are the most common type of seizure in every patient and long-lasting, with generalized seizures increasing markedly with age. EEG is characterized by a normal background within 6 months. With the increase of age, the background and interictal discharges have a tendency to deteriorate.

    Release date:2024-08-23 04:11 Export PDF Favorites Scan
  • Efficacy and safety of the ketogenic diet in genetic developmental and epileptic encephalopathy

    Objective To explore the efficacy and safety of the ketogenic diet (KD) in the treatment of genetic developmental and epileptic encephalopathy (DEE). Methods Clinical data from 42 children with genetically confirmed refractory epileptic encephalopathy treated in the Department of Neurology, Jinan Children’s Hospital, between January 2021 and October 2023 were retrospectively analyzed. A classic KD protocol was implemented, and outcomes including seizure frequency, electroencephalogram (EEG) improvement, and adverse reactions were observed at 3, 6, and 12 months post-treatment. Results Among the 42 children, the seizure-free rates at 3, 6, and 12 months of KD treatment were 16.7%, 16.7%, and 14.3%, respectively, while the effective seizure control rates were 69.0%, 52.4%, and 35.7%. At 3 months, comparison of baseline characteristics between the effective and ineffective groups showed no statistically significant differences in gender (P=0.095), age at onset (P=0.648), age at KD initiation(P=0.768), disease duration before KD (P=0.519), presence of abnormal brain MRI findings (P=0.226), epilepsy syndrome classification(P=0.344), or ion channel gene involvement (P=0.066). EEG improvement rates at 6 and 12 months were 54.2% (24 cases) and 42.8% (14 cases), respectively. Retention rates for KD at 3, 6, and 12 months were 100.0%, 71.4%, and 42.8%. Adverse reactions occurred in 7 patients (16.7%), primarily gastrointestinal symptoms (vomiting, constipation, diarrhea; 6 cases) and elevated uric acid (1 case), with no severe adverse events reported. Conclusion KD is an effective treatment for genetic DEE with favorable short-term safety, though long-term adherence requires attention.

    Release date:2025-05-08 09:41 Export PDF Favorites Scan
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