Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center [0.03%]
外显子组测序在大型儿科癫痫队列中的临床应用及遗传谱系:来自土耳其三级护理中心的启示
Derya Karaer,Beste Kipçak Yüzbaşı,İpek Şahin et al.
Derya Karaer et al.
Objective: To evaluate the diagnostic utility and genetic spectrum of next-generation sequencing (NGS) in a large, well-phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. ...
From electroclinical phenotype to adult SCN1A diagnosis: Insights from the correspondence between Carlo Alberto Tassinari and Charlotte Dravet [0.03%]
从临床电生理表型到成人SCN1A诊断的思考——卡洛·阿尔贝托·塔萨尼和夏洛特·德拉维 correspondence中的启示
Giuseppe dOrsi,Leonardo DAgruma,Pietro Palumbo et al.
Giuseppe dOrsi et al.
Maria Emilia C Andraus,Bernard Liem,Sidra Aurangzeb et al.
Maria Emilia C Andraus et al.
Background: N-methyl-D-aspartate receptor antibody encephalitis (NMDAR-Ab-E) is an autoantibody-mediated disorder, characterized by acute development of neuropsychiatric symptoms, seizures, movement disorders, and autonom...
Côme-Alexandre Meyruey,Pierre Mégevand
Côme-Alexandre Meyruey
Complete seizure freedom following minimally invasive laser callosotomy in a patient with lissencephaly type 1: Challenging the traditional paradigm [0.03%]
I级皮层发育不良患者的微创激光胼胝体切开术取得完全无发作效果:挑战传统观念
Agilda Dema,Archie Baskaran,Joshua Chang et al.
Agilda Dema et al.
Predictors of long-term seizure outcomes and perceived quality of life outcomes after temporal lobe epilepsy surgery [0.03%]
颞叶癫痫手术后长期癫痫发作结果和生活质量影响因素的研究
Nilesh S Kurwale,Sarthak Jain,Sujit A Jagtap et al.
Nilesh S Kurwale et al.
Background: Balancing seizure outcomes and cognitive deficits is always a challenge in both mesial and neocortical temporal lobe epilepsy cohorts. The present study evaluated the long-term seizure outcomes and perceived q...
Age-dependent electroclinical evolution from focal seizures to epileptic spasms in NUSAP1-related malformations of cortical development [0.03%]
NUSAP1相关皮层发育畸形的年龄依赖性电临床演变:从局灶性发作到癫痫性痉挛
Yoshiyuki Kobayashi,Kasumi Sasaki,Yuta Eguchi et al.
Yoshiyuki Kobayashi et al.
Bilateral independent ictal genital automatisms in a patient with temporal lobe epilepsy [0.03%]
一位颞叶癫痫患者的双侧独立阵发性生殖器自动症
Margil Ranpariya,Imtiaz Nazam,Alexus Ludwig
Margil Ranpariya
Correction to "Blink-induced epileptic negative myoclonus in CHD2-related epilepsy: A novel seizure semiology linked to visual transient hyperexcitability"Wang W, Wan L, Hu L, Chen J, Zhao Y, Li Z, et al. Blink-induced epileptic negative myoclonus in CHD2-related epilepsy: A novel seizure semiology linked to visual transient hyperexcit [0.03%]
对“CHD2相关性癫痫瞬时视觉高兴奋性联结的眨眼诱导的癫痫性负向肌阵挛发作”的校正 Wang 等
Response to "Between pregnancies: An educational window in women with epilepsy" [0.03%]
对“两次怀孕期间的情况:癫痫女性患者的教育机会”的回应
Frank Vajda,Terence J OBrien,Janet Graham et al.
Frank Vajda et al.