De novo SRCAP variants cause developmental and epileptic encephalopathy and the phenotypic spectrum [0.03%]
DEPCC16：SRCAP新发变异导致的发育和癫痫性脑病及其表型谱系
Xiao-Yu Liang,Xiang-Hong Meng,Wu-Chen Wu et al.
Xiao-Yu Liang et al.
Objective: The SRCAP gene encodes a core catalytic subunit of adenosine triphosphate-dependent chromatin remodeling complexes that play an essential role in chromatin regulation and neurodevelopment. Our recent study show...
A randomized, double-blind, placebo-controlled, multicenter study to evaluate the efficacy and safety of adjunctive cenobamate in Asian patients with focal seizures [0.03%]
司来巴坦他唑巴坦治疗复杂尿路感染和急性肾盂肾炎中国多中心、随机双盲三期临床试验：研究方案
Sang Kun Lee,Peimin Yu,Eunyeong Choe et al.
Sang Kun Lee et al.
Objectives: This randomized, double-blind, placebo-controlled study (NCT04557085), conducted in China, Japan, and the Republic of Korea, evaluated the efficacy and safety of adjunctive cenobamate in patients with uncontro...
Chemogenetic astrocyte modulation reduces spontaneous hippocampal discharges and metabolite changes in an epilepsy mouse model [0.03%]
化学遗传学调节星形胶质细胞可降低癫痫小鼠模型的海马自发放电及代谢物变化
Liam Nestor,Yana Van Den Herrewegen,Marcus Dyer et al.
Liam Nestor et al.
Objectives: Temporal lobe epilepsy (TLE) is characterized by recurrent, focal seizures, and up to one third of patients are not adequately treated by the current standard of care. This emphasizes the need for continued re...
Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology [0.03%]
单基因起源的失神癫痫的临床和遗传图谱
Simona Balestrini,Ilaria Galli,Maria Luisa Ricci et al.
Simona Balestrini et al.
Objective: To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications...
Respiratory dysfunction and fatal apnea during pilocarpine-induced status epilepticus [0.03%]
毛果芸香碱诱导的癫痫状态伴呼吸功能障碍及致死性呼吸暂停
Chengsan Sun,Rachel Spera,John M Williamson et al.
Chengsan Sun et al.
Objective: Status epilepticus (SE) is second only to sudden unexpected death in epilepsy as a cause of seizure-related mortality. The progression of respiratory dysfunction during experimental SE remains poorly characteri...
Characteristics, therapeutic pathway and the economic burden of patients with drug-resistant epilepsy: A real-world analysis following the introduction of cenobamate in Italy [0.03%]
意大利引入左乙拉西坦后难治性癫痫患者的特点、治疗途径及经济负担的真实世界分析
Valentina Perrone,Chiara Veronesi,Maria Cappuccilli et al.
Valentina Perrone et al.
Objectives: Drug-resistant epilepsy (DRE) remains a major clinical challenge, affecting approximately one-third of patients with epilepsy. Cenobamate, a novel antiseizure medication (ASM) approved in Italy in 2022, has sh...
Comparing three natural language processing methods for the automatic identification of epilepsy patients from French clinical notes [0.03%]
比较三种自然语言处理方法的优劣以自动识别法国临床记录中的癫痫患者
François Le Gac,Quentin Calonge,Candice Estellat et al.
François Le Gac et al.
Objective: Manual review of clinical notes by experts remains the reference standard for identifying patients with epilepsy in health databases. However, this process is labor-intensive and time-consuming due to the unstr...
Development and validation of clinico-imaging machine learning and deep learning models to predict responses to initial antiseizure medications in epilepsy [0.03%]
开发和验证临床影像机器学习和深度学习模型以预测癫痫初始抗惊厥药物的反应
Mohammad-Reza Nazem-Zadeh,Richard Shek-Kwan Chang,Sarah Barnard et al.
Mohammad-Reza Nazem-Zadeh et al.
Objective: Antiseizure medications (ASMs) are the first-line treatment for epilepsy, yet they are ineffective in controlling seizures in about 40% of patients with unpredictable individual response to treatment. This stud...
De novo missense variants in BAIAP2 are associated with developmental and epileptic encephalopathies [0.03%]
BAIAP2错义突变与发育性和癫痫性脑病相关
Gang Zhang,Yaping Lu,Lingling Xie et al.
Gang Zhang et al.
Objective: Brain-specific angiogenesis inhibitor 1-associated protein 2 (BAIAP2) plays a crucial role in dendritic spine morphogenesis and excitatory synapse formation. We establish de novo variants in BAIAP2 as a novel g...
Bexicaserin for the treatment of seizures in developmental and epileptic encephalopathies: A phase 1b/2a trial (PACIFIC) [0.03%]
贝西塞林治疗发育性和癫痫性脑病患者的发作：一项I期/Ib期试验（太平洋试验）
Dennis J Dlugos,Ingrid E Scheffer,Jacqueline A French et al.
Dennis J Dlugos et al.
Objective: This randomized, double-blind, phase 1b/2a clinical trial was designed to evaluate the safety, tolerability, and efficacy of oral bexicaserin versus placebo for the treatment of seizures in adolescents and adul...