Novel splice-site and recurrent p.Arg729* CNKSR2 variants in ESES/CSWS: insights into sex-dependent expression [0.03%]
ESES/CSWS中CNKSR2基因的新剪接位点和复发性p.Arg729*变异：对性别依赖表达的启示
Adnan Deniz,Eyyüp Üçtepe,Fatma Müjgan Sönmez
Adnan Deniz
Purpose: Pathogenic variants in CNKSR2 (Xp22.12) cause an X-linked neurodevelopmental disorder with intellectual disability, language impairment, and a distinctive epilepsy phenotype, including encephalopathy with status ...
Electroclinical features of epilepsy in AUTS2-related syndrome: case description and narrative review [0.03%]
与AUTS2相关综合征的癫痫电临床特征：病例描述和叙述性综述
Gaetano Maria Celardo,Matilde Neri,Gemma Marinella et al.
Gaetano Maria Celardo et al.
Purpose: Pathogenic variants in AUTS2 are associated with neurodevelopmental disorders, commonly characterized by intellectual disability and autism spectrum disorder. Epilepsy in AUTS2-related syndromes has been reported...
The prevalence of post-traumatic stress disorder in functional / dissociative seizures: A systematic review and meta-analysis [0.03%]
PTSD在功能/分离性发作患者中的流行病学：系统评价和Meta分析
Danielle Nicholson,Chris Gaskell,Gregg Harry Rawlings et al.
Danielle Nicholson et al.
Objectives: Individual studies have highlighted elevated rates of post-traumatic stress disorder (PTSD) in cohorts of people with functional / dissociative seizures; however, prevalence estimates vary and the strength of ...
Status epilepticus in the prehospital setting: treatment gaps and their association with hospital course [0.03%]
现场治疗局灶性癫痫持续状态的缺口及其与院内病程的关系
Justas Dijokas,Benas Matuzevičius,Kristijonas Puteikis et al.
Justas Dijokas et al.
Purpose: Status epilepticus (SE) is a time-critical neurological emergency associated with significant morbidity and mortality, making timely recognition and treatment particularly crucial. We aimed to evaluate whether pr...
Fadi Ahmed,Alexander Wallace,Amr Mohamed et al.
Fadi Ahmed et al.
Vagus nerve stimulation for refractory status epilepticus: A systematic review [0.03%]
难治性癫痫持续状态的迷走神经刺激治疗系统综述
Chun-Lin Kuo,Hung-Yu Lin,Chia-Kuang Tsai et al.
Chun-Lin Kuo et al.
Rationale: Refractory status epilepticus (RSE) is associated with high morbidity and mortality; however, evidence supporting standardized, effective medical treatments remains limited, and the role of vagus nerve stimulat...
Memory performance, hippocampal volumes and memory fMRI in frontal versus temporal lobe epilepsy [0.03%]
frontal lobe癫痫与temporal lobe癫痫的记忆表现、海马体积和记忆功能磁共振影像的比较研究
Anna Doll,Martin Wegrzyn,Friedrich G Woermann et al.
Anna Doll et al.
Purpose: Patients with temporal lobe epilepsy (TLE) and patients with frontal lobe epilepsy (FLE) show an increased risk of memory impairment relative to healthy controls, alongside structural and functional encoding-rela...
Epilepsy with fever-sensitivity in patients with ATP6V0C pathogenic variants [0.03%]
ATP6V0C病灶变异患者的发热敏感性癫痫
Federica Martina Abigail Tanganelli,Maria Francesca Di Feo,Francesca Madia et al.
Federica Martina Abigail Tanganelli et al.
Objective: Fever can trigger seizures in several early-onset epilepsies. SCN1A-related epilepsies, including Dravet Syndrome, are the best characterised conditions in this spectrum, but a growing number of genes implicate...
Driving Restrictions in Photosensitive Epilepsy: Evidence, Assumptions, and Unanswered Questions [0.03%]
光敏性癫痫的驾驶限制：证据、假设与未解问题
Lena Bender,Andreas Schulze-Bonhage
Lena Bender
Background: Driving restrictions for people with epilepsy are primarily based on the risk of seizure recurrence. Photosensitive epilepsy (PSE) could increase the risk of traffic accidents due to visually provoked seizures...
Association of hospital location and academic variations with status epilepticus outcomes: A national cohort study [0.03%]
医院位置、学术差异与癫痫持续状态结局的关系：一项全国队列研究
Amelia N Pham,Alexander Hall,Ali Al-Salahat et al.
Amelia N Pham et al.
Background/introduction: Outcomes in status epilepticus (SE) depend on rapid seizure control, yet transport times/resources differ by hospital type. We hypothesized that hospital outcomes vary across hospital types: metro...