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排序方式: 共有210条查询结果,搜索用时 15 毫秒
1.
Jan H. Dring Julian Schrter Jerome Jüngling Saskia Biskup Kerstin A. Klotz Thomas Bast Tobias Dietel G. Christoph Korenke Sophie Christoph Heiko Brennenstuhl Guido Rubboli Rikke S. Mller Gaetan Lesca Yves Chaix Stefan Klker Georg F. Hoffmann Johannes R. Lemke Steffen Syrbe 《International journal of molecular sciences》2021,22(6)
Pathogenic variants in KCNA2, encoding for the voltage-gated potassium channel Kv1.2, have been identified as the cause for an evolving spectrum of neurological disorders. Affected individuals show early-onset developmental and epileptic encephalopathy, intellectual disability, and movement disorders resulting from cerebellar dysfunction. In addition, individuals with a milder course of epilepsy, complicated hereditary spastic paraplegia, and episodic ataxia have been reported. By analyzing phenotypic, functional, and genetic data from published reports and novel cases, we refine and further delineate phenotypic as well as functional subgroups of KCNA2-associated disorders. Carriers of variants, leading to complex and mixed channel dysfunction that are associated with a gain- and loss-of-potassium conductance, more often show early developmental abnormalities and an earlier onset of epilepsy compared to individuals with variants resulting in loss- or gain-of-function. We describe seven additional individuals harboring three known and the novel KCNA2 variants p.(Pro407Ala) and p.(Tyr417Cys). The location of variants reported here highlights the importance of the proline(405)–valine(406)–proline(407) (PVP) motif in transmembrane domain S6 as a mutational hotspot. A novel case of self-limited infantile seizures suggests a continuous clinical spectrum of KCNA2-related disorders. Our study provides further insights into the clinical spectrum, genotype–phenotype correlation, variability, and predicted functional impact of KCNA2 variants. 相似文献
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Gaku Yamanaka Shinichiro Morichi Tomoko Takamatsu Yusuke Watanabe Shinji Suzuki Yu Ishida Shingo Oana Takashi Yamazaki Fuyuko Takata Hisashi Kawashima 《International journal of molecular sciences》2021,22(9)
Accumulating evidence has demonstrated that the pathogenesis of epilepsy is linked to neuroinflammation and cerebrovascular dysfunction. Peripheral immune cell invasion into the brain, along with these responses, is implicitly involved in epilepsy. This review explored the current literature on the association between the peripheral and central nervous systems in the pathogenesis of epilepsy, and highlights novel research directions for therapeutic interventions targeting these reactions. Previous experimental and human studies have demonstrated the activation of the innate and adaptive immune responses in the brain. The time required for monocytes (responsible for innate immunity) and T cells (involved in acquired immunity) to invade the central nervous system after a seizure varies. Moreover, the time between the leakage associated with blood–brain barrier (BBB) failure and the infiltration of these cells varies. This suggests that cell infiltration is not merely a secondary disruptive event associated with BBB failure, but also a non-disruptive event facilitated by various mediators produced by the neurovascular unit consisting of neurons, perivascular astrocytes, microglia, pericytes, and endothelial cells. Moreover, genetic manipulation has enabled the differentiation between peripheral monocytes and resident microglia, which was previously considered difficult. Thus, the evidence suggests that peripheral monocytes may contribute to the pathogenesis of seizures. 相似文献
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Classification of focal and nonfocal EEG signals using ANFIS classifier for epilepsy detection
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S. Deivasigamani C. Senthilpari Wong Hin Yong 《International journal of imaging systems and technology》2016,26(4):277-283
The electroencephalogram (EEG) is the frequently used signal to detect epileptic seizures in the brain. For a successful epilepsy surgery, it is very essential to localize epileptogenic area in the brain. The signals from the epileptogenic area are focal signals and signals from other area of the brain region nonfocal signals. Hence, the classification of focal and nonfocal signals is important for locating the epileptogenic area for epilepsy surgery. In this article, we present a computer aided automatic detection and classification method for focal and nonfocal EEG signal. The EEG signal is decomposed by Dual Tree Complex Wavelet Transform (DT‐CWT) and the features are computed from the decomposed coefficients. These features are trained and classified using Adaptive Neuro Fuzzy Inference System (ANFIS) classifier. The proposed system achieves 98% sensitivity, 100% specificity, and 99% accuracy for EEG signal classification. The experimental results are presented to show the effectiveness of the proposed classification method to classify the focal and nonfocal EEG signals. © 2016 Wiley Periodicals, Inc. Int J Imaging Syst Technol, 26, 277–283, 2016 相似文献
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Incisa della Rocchetta A.; Samson S.; Ehrlé N.; Denos M.; Hasboun D.; Baulac M. 《Canadian Metallurgical Quarterly》2004,18(1):15
This study addressed the role of the medial temporal lobe regions and, more specifically, the contribution of the human hippocampus in memory for body-centered (egocentric) and environment-centered (allocentric) spatial location. Twenty-one patients with unilateral atrophy of the hippocampus secondary to long-standing epilepsy (left, n = 7; right, n = 14) and 15 normal control participants underwent 3 tasks measuring recall of egocentric or allocentric spatial location. Patients with left hippocampal sclerosis were consistently impaired in the allocentric conditions of all 3 tasks but not in the egocentric conditions. Patients with right hippocampal sclerosis were impaired to a lesser extent and in only 2 of the 3 tasks. It was concluded that hippocampal structures are crucial for allocentric, but not egocentric, spatial memory. (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
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摘要:致痫区脑电识别能够为癫痫外科手术提供重要的参考价值。提出了一种基于深度网络迁移学习的致痫区脑电识别算法。首先利用连续小波变换(CWT)对脑电信号进行时频分析,获得脑电信号时频图;然后迁移学习AlexNet网络模型,调整网络结构使之适应于致痫区脑电识别,将模型第7层全连接层输出作为脑电信号时频图的特征表示,最后利用支持向量机(SVM)、BP神经网络、长短期记忆网络(LSTM)、基于稀疏表达分类算法(SRC)、线性判别分析(LDA)等分类算法进行特征分类。基于开源脑电数据集采用十折交叉验证的方法对算法进行了验证,比较6种分类器的效果,得到SVM算法的平均特异性为8881%,灵敏度为8807%,准确率为8844%,证明了该方法识别致痫区脑电信号的有效性。 .txt 相似文献
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Barbara Sita Mihaela Bobi-Rasonja Goran Mrak Sara Trnski Magdalena Krbot Skori Darko Orekovi Vinka Knezovi
eljka Petelin Gade Zdravko Petanjek Goran imi Danijela Kolenc Nataa Jovanov Miloevi 《International journal of molecular sciences》2022,23(15)
The extracellular matrix (ECM) is an important regulator of excitability and synaptic plasticity, especially in its highly condensed form, the perineuronal nets (PNN). In patients with drug-resistant mesial temporal lobe epilepsy (MTLE), hippocampal sclerosis type 1 (HS1) is the most common histopathological finding. This study aimed to evaluate the ECM profile of HS1 in surgically treated drug-resistant patients with MTLE in correlation to clinical findings. Hippocampal sections were immunohistochemically stained for aggrecan, neurocan, versican, chondroitin-sulfate (CS56), fibronectin, Wisteria floribunda agglutinin (WFA), a nuclear neuronal marker (NeuN), parvalbumin (PV), and glial-fibrillary-acidic-protein (GFAP). In HS1, besides the reduced number of neurons and astrogliosis, we found a significantly changed expression pattern of versican, neurocan, aggrecan, WFA-specific glycosylation, and a reduced number of PNNs. Patients with a lower number of epileptic episodes had a less intense diffuse WFA staining in Cornu Ammonis (CA) fields. Our findings suggest that PNN reduction, changed ECM protein, and glycosylation expression pattern in HS1 might be involved in the pathogenesis and persistence of drug-resistant MTLE by contributing to the increase of CA pyramidal neurons’ excitability. This research corroborates the validity of ECM molecules and their modulators as a potential target for the development of new therapeutic approaches to drug-resistant epilepsy. 相似文献