Interictal epileptiform discharges contribute to word-finding difficulty in epilepsy through multiple cognitive mechanisms [0.03%]
癫痫持续期痫性放电通过多种认知机制导致词句寻找困难
Alexander B Silva,Matthew K Leonard,Yulia Oganian et al.
Alexander B Silva et al.
Objective: Cognitive impairment often impacts quality of life in epilepsy even if seizures are controlled. Word-finding difficulty is particularly prevalent and often attributed to etiological (static, baseline) circuit a...
Katrine M Johannesen,Zeynep Tümer,Sarah Weckhuysen et al.
Katrine M Johannesen et al.
Many patients with epilepsy undergo exome or genome sequencing as part of a diagnostic workup; however, many remain genetically unsolved. There are various factors that account for negative results in exome/genome sequencing for patients wi...
4-Phenylbutyrate promoted wild-type γ-aminobutyric acid type A receptor trafficking, reduced endoplasmic reticulum stress, and mitigated seizures in Gabrg2+/Q390X mice associated with Dravet syndrome [0.03%]
4-苯基丁酸促进野生型γ-氨基丁酸A型受体转运，减少内质网应激并缓解Gabrg2+/Q390X小鼠（与Dravet综合征相关）的癫痫发作
Wangzhen Shen,Carson Flamm,Aiden J Delahanty et al.
Wangzhen Shen et al.
Objective: γ-Aminobutyric acid type A (GABAA ) receptor subunit gene mutations are major causes of various epilepsy syndromes, including severe kinds such as Dravet syndrome. Although the GABAA receptor is a major target...
A novel de novo HCN2 loss-of-function variant causing developmental and epileptic encephalopathy treated with a ketogenic diet [0.03%]
一种新的基因突变导致的发育性和癫痫性脑病用生酮饮食治疗有效
Jacopo C DiFrancesco,Francesca Ragona,Carmen Murano et al.
Jacopo C DiFrancesco et al.
Missense variants of hyperpolarization-activated, cyclic nucleotide-gated (HCN) ion channels cause variable phenotypes, ranging from mild generalized epilepsy to developmental and epileptic encephalopathy (DEE). Although variants of HCN1 ar...
Case Reports
Epilepsia. 2023 Dec;64(12):e222-e228. DOI:10.1111/epi.17777 2023
GRIN1 variants associated with neurodevelopmental disorders reveal channel gating pathomechanisms [0.03%]
GRIN1变异与神经发育障碍揭示通道闸控制病理机制
Lotten Ragnarsson,Zihan Zhang,Sooraj S Das et al.
Lotten Ragnarsson et al.
Objective: N-methyl-d-aspartate (NMDA) receptors are expressed at synaptic sites, where they mediate fast excitatory neurotransmission. NMDA receptors are critical to brain development and cognitive function. Natural vari...
A scoping review of the functional magnetic resonance imaging-based functional connectivity of focal cortical dysplasia-related epilepsy [0.03%]
局灶性皮质发育不良相关癫痫的功能磁共振成像功能连接的综述研究
Nathan T Cohen,Hua Xie,Taha Gholipour et al.
Nathan T Cohen et al.
Focal cortical dysplasia (FCD) is the most frequent etiology of operable pharmacoresistant epilepsy in children. There is burgeoning evidence that FCD-related epilepsy is a disorder that involves distributed brain networks. Functional magne...
Role of optically pumped magnetometers in presurgical epilepsy evaluation: Commentary of the American Clinical Magnetoencephalography Society [0.03%]
美国临床脑磁图学会在术前癫痫评估中关于光学泵浦磁力仪作用的评论
Anto I Bagić,Susan M Bowyer,Richard C Burgess et al.
Anto I Bagić et al.
One of the major challenges of modern epileptology is the underutilization of epilepsy surgery for treatment of patients with focal, medication resistant epilepsy (MRE). Aggravating this distressing failure to deliver optimum care to these ...
Health equity integrated epilepsy care and research: A narrative review [0.03%]
兼顾健康公平的癫痫综合诊疗和研究：一篇叙述性综述
Evelyn G Gotlieb,Leah Blank,Allison W Willis et al.
Evelyn G Gotlieb et al.
Background: With the unanimous approval of the Intersectoral Global Action Plan on epilepsy and other neurological disorders by the World Health Organization in May 2022, there are strong imperatives to work towards equit...
Artificial intelligence-enhanced epileptic seizure detection by wearables [0.03%]
基于可穿戴设备的智能癫痫发作检测技术
Shuang Yu,Rima El Atrache,Jianbin Tang et al.
Shuang Yu et al.
Objective: Wrist- or ankle-worn devices are less intrusive than the widely used electroencephalographic (EEG) systems for monitoring epileptic seizures. Using custom-developed deep-learning seizure detection models, we de...
Rapid eye movement sleep affects interictal epileptic activity differently in mesiotemporal and neocortical areas [0.03%]
快速眼动睡眠对中颞区和新皮质区间歇性癫痫活动的影响不同
Alyssa Ho,Sana Hannan,John Thomas et al.
Alyssa Ho et al.
Objective: Rapid eye movement (REM) sleep reduces the rate and extent of interictal epileptiform discharges (IEDs). Breakthrough epileptic activity during REM sleep is therefore thought to best localize the seizure onset ...