Perampanel Monotherapy in Epileptic Children: A Systematic Review with Pooled Descriptive Analysis [0.03%]
儿童癫痫单用帕瑞莫泮治疗的系统性回顾及汇总描述分析
Chandan Raybarman
Chandan Raybarman
This systematic review with a pooled descriptive analysis aimed to improve our understanding of perampanel monotherapy for epilepsy in children today. The databases were created following a PubMed search, adhering to PRISMA guidelines. A to...
Childhood-Onset Refractory Absence Epilepsy as a Presentation of Glucose Transporter 1 Deficiency Syndrome Type 2: A Case Report With a Diagnostic Challenge [0.03%]
病例报道：诊断难题二型葡萄糖转运蛋白缺乏症所致儿童难治性失神性癫痫
Hana Ahmed,Mohammad Alsumaili,Muhammad Saeed et al.
Hana Ahmed et al.
Glucose transporter 1 (GLUT1) deficiency syndrome is a rare metabolic disorder caused by mutations in the SLC2A1 gene resulting in impaired glucose transport through the blood-brain barrier. The "classic" phenotype in children includes earl...
Prenatal, Perinatal, and Familial Risk Factors in the Differential Diagnosis Between Autism Spectrum Disorder and Phenylketonuria: A Retrospective Case-Control Study in the Absence of Neonatal Screening [0.03%]
自闭症谱系障碍与苯酮尿症鉴别诊断的孕期、围产期和家族危险因素：新生儿筛查缺失情况下的病例对照研究回顾
Chahrazed El Mezouar,Majda Dali-Sahi,Ikram Bourak et al.
Chahrazed El Mezouar et al.
BackgroundAutism spectrum disorder (ASD) and phenylketonuria (PKU) share overlapping neurodevelopmental features. In regions lacking systematic neonatal screening, the differential diagnosis remains a major clinical challenge.ObjectiveTo id...
Small Brains, Big Data: The Current Landscape of Pediatric Brain-Computer Interface Clinical Trials [0.03%]
小型大脑，大型数据：儿科脑机接口临床试验的现状
Christopher A Bobier,Reza Peyravi,Daniel Hurst
Christopher A Bobier
IntroductionBrain-computer interfaces (BCIs) have shown meaningful functional benefits for patients with severe neurologic and neuromuscular disabilities. Pediatric populations with similar conditions may likewise benefit, yet the scope and...
A Case of Paroxysmal Exercise-Induced Dyskinesia Expands the Phenotypic spectrum of NAXE-Related Encephalopathy [0.03%]
一名发作性运动诱发障碍患者扩大了NAXE相关脑病的临床谱系特征
Mert Altıntaş,Miraç Yıldırım,Ömer Bektaş et al.
Mert Altıntaş et al.
Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is a rare neurodegenerative disorder caused by pathogenic variants in NAXE gene. Movement disorders are among the clinical features of PEBEL1; however, no cas...
Integrating Cerebrospinal Fluid Metagenomic Next-Generation Sequencing and Immune Profiling in Recurrent HSV-1 Encephalitis: A Case Report and Narrative Review [0.03%]
脑脊液元基因组下一代测序和免疫表型在复发性HSV-1脑炎中的整合应用：病例报告与叙事综述
Chen Xu,Weihao Ling,Xiao Xiao et al.
Chen Xu et al.
BackgroundRecurrent herpes simplex virus type 1 (HSV-1) encephalitis in children is rare, and its pathophysiology remains incompletely understood. Both viral reactivation and host immune dysregulation have been implicated. Advances in metag...
Mild Encephalopathy With a Reversible Splenial Lesion Associated With Rotavirus and Enterohemorrhagic Escherichia coli Infection With Delayed Clinical Recovery [0.03%]
与胃肠出血性大肠杆菌和轮状病毒感染相关的轻度脑病及可逆性顶叶病变致延迟临床恢复
Goran Banjac,Boban Banjac,Zorka Ilić et al.
Goran Banjac et al.
Assessing Sudden Unexpected Death in Epilepsy (SUDEP), Mortality, and Suicide in Pediatric Epilepsy from the lens of Healthcare Disparities: Data From a Scoping Review [0.03%]
从医疗差异的角度评估儿童癫痫的突然意外死亡、死亡率和自杀：系统评价的数据
Senyene E Hunter,Shital Patel,Sonal Bhatia
Senyene E Hunter
RationaleA recent scoping review of disparities in pediatric epilepsy revealed that mortality-related outcomes, including sudden unexpected death in epilepsy (SUDEP) and suicide, are rarely studied. We addressed this gap by systematically a...
The Importance of Accessible, Patient-Focused Language in the Age of the Electronic Medical Record [0.03%]
电子健康记录时代以患者为中心的医疗语言的重要性
Julia Totten,Nilaksa Sivanenthiran,Tuba Rashid Khan
Julia Totten
Genetic Etiologies and Risk Factors for Regressive Autism and Childhood Disintegrative Disorder: A Scoping Review [0.03%]
自闭症谱系障碍和儿童瓦解性障碍的病因及危险因素概述性综述
Jennifer Fairthorne,Fiona Rae,Abha Gupta et al.
Jennifer Fairthorne et al.
Autism spectrum disorder (autism) is diagnosed by persistent deficits in communication and social interaction, along with restricted, repetitive behaviors or interests. About a third of children with autism appear to develop normally but su...