Exploring the role of apolipoprotein ε4 in progressive myoclonic epilepsy type 1 [0.03%]
载脂蛋白ε4在进行性肌阵挛性癫痫1型中作用的探究
Janina Gunnar,Yawu Liu,Henri Eronen et al.
Janina Gunnar et al.
Objective: Progressive myoclonic epilepsy type 1 (EPM1) is a neurodegenerative disease caused by biallelic variants in the cystatin B (CSTB) gene. Despite a progressive course, phenotype severity varies among patients, ev...
Miguel Saianda Duarte,Vasco Fonseca,Joana Neiva Correia et al.
Miguel Saianda Duarte et al.
Objective: Myoclonic status epilepticus (MSE) is a critical neurological condition in elderly patients, characterized by near-continuous myoclonus associated with epileptiform EEG abnormalities. Despite its clinical signi...
Flashing lights, fading facts. The problem of poor seizure education on Tiktok [0.03%]
闪烁的灯光，褪色的事实。关于TikTok上癫痫教育不足的问题
Mina Stojković,Mihailo Svetozarević,Boban Biševac et al.
Mina Stojković et al.
Objective: TikTok has rapidly become one of the most influential social media platforms, so understanding the quality of medical content on this platform is essential for evaluating its role in public health communication...
Toward a working definition of ketogenic diet resistance in GLUT1 deficiency syndrome [0.03%]
向GLUT1缺陷症生酮饮食抵抗的运作定义迈进
Raffaele Falsaperla,Vincenzo Sortino,Gerhard Josef Kluger et al.
Raffaele Falsaperla et al.
Objective: The ketogenic diet (KD) is the standard treatment for glucose transporter type 1 deficiency syndrome (GLUT1-DS), typically yielding seizure reduction and cognitive/motor gains. However, a small subset of patien...
Stephan Schuele,Robyn M Busch,Birgit Frauscher et al.
Stephan Schuele et al.
All patients with drug-resistant seizures benefit from a comprehensive evaluation to confirm their seizure diagnosis and explore surgical treatment options. This seminar in epileptology discusses advancements in the field and provides speci...
Induction of yawning by cortical stimulation of the left premotor cortex: A novel insight into the motor circuitry of yawning [0.03%]
通过刺激左半球额前区诱导打哈欠：对打哈欠运动回路的新认识
Thuppanattumadam Ananthasubramanian Sangeeth,Noel E James,Lakshminarayanapuram Gopal Viswanathan et al.
Thuppanattumadam Ananthasubramanian Sangeeth et al.
Enhancing medication adherence in drug-resistant epilepsy using "Epilepto": A pilot randomized controlled trial (EMPOWER-E) [0.03%]
增强难治性癫痫患者用药依从性的试点随机对照试验（EMPOWER-E）：“癫痫助手”应用程序的效果
Paras Tewari,Saurabh Agarwal,Lokesh Saini et al.
Paras Tewari et al.
Objective: Drug-resistant epilepsy is a disabling, chronic condition in children. Long-term prognosis depends on the extent of seizure control. Ensuring compliance with medication can help reduce the seizure burden. Forge...
Adult-onset drug-resistant progressive epilepsy in a patient with novel MECP2 mutation [0.03%]
MECP2新型突变患者的成人难治性进行性癫痫
Sophey Ho,Constance Smith-Hicks,Madeline C Fields
Sophey Ho
Mutations in the Methyl-CpG-binding protein 2 (MECP2) gene are associated with a spectrum of neurologic disorders, most commonly of which is Rett syndrome (RTT). As these mutations occur in germ cells, neurologic symptoms usually begin in e...
Eyelid myoclonia in Lafora disease: Diagnostic and clinical challenges [0.03%]
Lafora病的 eyelid 我导症：诊断和临床挑战
Volkan Tasdemir,Atakan Aydogan,Ozgu Kizek et al.
Volkan Tasdemir et al.
CHD8-related neurodevelopmental disorder with non-epileptic myoclonus in an adult [0.03%]
成人CHD8相关神经发育障碍伴非癫痫性肌阵挛病例报告
Kaley J Marcinski Nascimento,Laura Xavier,Réjean M Guerriero et al.
Kaley J Marcinski Nascimento et al.