S Beumer,I Rigoni,S Lagarde et al.
S Beumer et al.
Expanding the phenotypic spectrum of CACNA1A-related developmental and epileptic encephalopathy in adults [0.03%]
CACNA1A相关性发育性和癫痫性脑病的表型谱系在成人中的扩展
Orazio Palumbo,Umberto Costantino,Mario Benvenuto et al.
Orazio Palumbo et al.
Deleterious variants in the CACNA1A gene, encoding the CaV2.1 P/Q-type voltage-gated calcium channel, cause a broad spectrum of neurological disorders, including familial hemiplegic migraine, episodic ataxia, and developmental and epileptic...
Changes in artistic expression after deep brain stimulation of the anterior thalamic nucleus [0.03%]
前丘脑核深部电刺激后艺术表现形式的变化
Masaki Izumi,Yuuki Ishida,Miho Takata et al.
Masaki Izumi et al.
Hemant Kumar Tiwari,Mamta Bhushan Singh,Usha Raman et al.
Hemant Kumar Tiwari et al.
Effective doctor-patient communication has been reported to transform the experiences of people with epilepsy and their families in healthcare settings. An integrative review was conducted to integrate findings across existing evidence to p...
Silvia Maio,Mariana Fernandes,Cinzia Costa et al.
Silvia Maio et al.
Objective: The bidirectional relationship between epilepsy and sleep is well established. People with epilepsy frequently experience sleep and wake disturbances, which may be more frequent in older adults. With 15%-20% of...
Vagus nerve stimulation for drug-resistant epilepsy and predictors for seizure freedom: A nationwide multicenter cohort study in Mexico [0.03%]
墨西哥全国多中心队列研究：迷走神经刺激治疗难治性癫痫及无发作预测因素分析
María F Castelo-Pablos,Alma M Huerta-Hurtado,Immer Armendáriz-Betancourt et al.
María F Castelo-Pablos et al.
Objective: To evaluate clinical outcomes, treatment response and predictors of seizure freedom after vagus nerve stimulation in patients with drug-resistant epilepsy in a Mexican cohort. ...
Beyond seizure control: The impact of SEEG-guided radiofrequency thermocoagulation on quality of life [0.03%]
立体脑电图引导射频热凝治疗对生活质量的影响
Judit Catalán-Aguilar,Rocío Uriel-Lavin,Adriana Celdrán de Castro et al.
Judit Catalán-Aguilar et al.
Objective: Stereoencephalography (SEEG)-guided radiofrequency thermocoagulation (RF-TC) is an effective method in improving seizure control. However, as far as we know, no studies have addressed the effectiveness of this ...
The emerging role of citrate as a diagnostic biomarker in SLC13A5-developmental and epileptic encephalopathy [0.03%]
柠檬酸作为SLC13A5发育和癫痫性脑病诊断生物标志物的作用不容小觑
Laia Nou-Fontanet,Noelia Muñoz-Puga,Irene Madrigal et al.
Laia Nou-Fontanet et al.
SLC13A5-developmental and epileptic encephalopathy (SLC13A5-DEE) is a rare autosomal recessive disorder characterized by neonatal-onset seizures, global developmental delay, and amelogenesis imperfecta. Diagnosis can be particularly challen...
Startle-sensitive myoclonus with spastic-ataxic gait in 4p duplication: A clinical vignette [0.03%]
四号染色体短臂重复引起的惊跳反应敏感性肌阵挛及痉挛共济失调步态：一例临床报道
Aliakbar Netterwala,Abdul Mannan Khan,Priya Ranganath et al.
Aliakbar Netterwala et al.
Electrophysiological patterns and therapeutic outcomes in DEE-SWAS: A cohort study from a tertiary pediatric neurology center [0.03%]
DEE-SWAS电生理模式及疗效的队列研究
Fatma Hanci,Ayşegül Daniş
Fatma Hanci
Objective: This study aimed to evaluate the clinical, electrophysiological, and radiological characteristics of pediatric patients diagnosed with developmental and epileptic encephalopathy with spike-wave activation durin...