Patient-derived SLC6A1 variant S295L results in an epileptic phenotype similar to haploinsufficient mice [0.03%]
SLC6A1基因上的患者衍生变异S295L导致的表型与半合子不足小鼠类似
Britta E Lindquist,Yuliya Voskobiynyk,Kimberly Goodspeed et al.
Britta E Lindquist et al.
The solute carrier family 6 member 1 (SLC6A1) gene encodes GAT-1, a γ-aminobutyric acid transporter expressed on astrocytes and inhibitory neurons. Mutations in SLC6A1 are associated with epilepsy and developmental disorders, including mot...
Creating rare epilepsy cohorts using keyword search in electronic health records [0.03%]
利用电子健康记录中的关键词搜索创建罕见癫痫队列
Kristen Barbour,Niu Tian,Elissa G Yozawitz et al.
Kristen Barbour et al.
Objective: Administrative codes to identify people with rare epilepsies in electronic health records are limited. The current study evaluated the use of keyword search as an alternative method for rare epilepsy cohort cre...
Sustainability of seizure reduction and seizure control with adjunctive cenobamate: Post hoc analysis of a phase 3, open-label study [0.03%]
附加用cenobamate减少发作和控制发作的可持续性：一项3期开放标签研究的事后分析
David G Vossler,William E Rosenfeld,Sean Stern et al.
David G Vossler et al.
Objective: In this post hoc analysis of a subset of patients from a long-term, open-label phase 3 study, we assessed ≥50%, ≥75%, ≥90%, and 100% seizure reduction and sustainability of these responses with cenobamate us...
A quality improvement initiative to improve folic acid supplementation counseling for adolescent females with epilepsy [0.03%]
一项质量改进计划：提高对患癫痫的女青春期患者服用叶酸建议的质量
Sara E Molisani,Darshana Parikh,Marissa DiGiovine et al.
Sara E Molisani et al.
Objective: We designed a quality improvement (QI) project to improve rates of documented folic acid supplementation counseling for adolescent females with epilepsy, consistent with a quality measure from the American Acad...
Initial case series of a novel sensing deep brain stimulation device in drug-resistant epilepsy and consistent identification of alpha/beta oscillatory activity: A feasibility study [0.03%]
新型深度脑刺激设备治疗难治性癫痫的初步病例系列及alpha/β振荡活动的一致识别：一项可行性研究
Melissa M J Chua,Matteo Vissani,David D Liu et al.
Melissa M J Chua et al.
Objective: Here, we report a retrospective, single-center experience with a novel deep brain stimulation (DBS) device capable of chronic local field potential (LFP) recording in drug-resistant epilepsy (DRE) and explore p...
Cognitive phenotype of juvenile absence epilepsy: An investigation of patients and unaffected siblings [0.03%]
青少年失神癫痫的认知表型：患者和未受影响的兄弟姐妹的研究
Lorenzo Caciagli,Corey Ratcliffe,Fenglai Xiao et al.
Lorenzo Caciagli et al.
Objective: The cognitive profile of juvenile absence epilepsy (JAE) remains largely uncharacterized. This study aimed to: (1) elucidate the neuropsychological profile of JAE; (2) identify familial cognitive traits by inve...
Neurofilament light, glial fibrillary acidic protein, and tau in a regional epilepsy cohort: High plasma levels are rare but related to seizures [0.03%]
神经丝轻链、胶质纤维酸性蛋白和tau蛋白在局部癫痫患者队列中的变化：高水平不常见，但与癫痫发作相关
Sarah Akel,Fredrik Asztely,Rakesh Kumar Banote et al.
Sarah Akel et al.
Objective: Higher levels of biochemical blood markers of brain injury have been described immediately after tonic-clonic seizures and in drug-resistant epilepsy, but the levels of such markers in epilepsy in general have ...
Premysl Jiruska,Dean Freestone,Vadym Gnatkovsky et al.
Premysl Jiruska et al.
Seizures beget seizures is a longstanding theory that proposed that seizure activity can impact the structural and functional properties of the brain circuits in ways that contribute to epilepsy progression and the future occurrence of seiz...
Are brief febrile seizures benign? A systematic review and narrative synthesis [0.03%]
短暂发热性癫痫发作无害吗？系统综述及叙述综合分析
Laura Gould,Victoria Delavale,Caitlin Plovnick et al.
Laura Gould et al.
Febrile seizures affect 2%-5% of U.S. children and are considered benign although associated with an increased risk of epilepsy and, rarely, with sudden unexplained death. We compared rates of mortality, neurodevelopmental disorders, and ne...
Machine learning using multimodal clinical, electroencephalographic, and magnetic resonance imaging data can predict incident depression in adults with epilepsy: A pilot study [0.03%]
一项使用多模态临床、脑电图和磁共振成像数据的机器学习预测癫痫成人新发抑郁的试点研究
Guillermo Delgado-García,Jordan D T Engbers,Samuel Wiebe et al.
Guillermo Delgado-García et al.
Objective: This study was undertaken to develop a multimodal machine learning (ML) approach for predicting incident depression in adults with epilepsy. Me...