Association of weather with seizure incidence in children with drug-resistant epilepsy: A multicenter prospective observational study [0.03%]
儿童难治性癫痫发作与气象因素的关联研究：一项多中心前瞻性观察研究
Yuto Arai,Tohru Okanishi,Hisashi Noma et al.
Yuto Arai et al.
Purpose: We investigated the correlation of atmospheric pressure, temperature, and humidity with seizures in children with drug-resistant epilepsy (DRE). ...
A novel splice site variant in TIMM8A induced abnormal mRNA splicing resulting in Mohr-Tranebjaerg syndrome [0.03%]
TIMM8A新型剪接位点突变致异常mRNA剪接引起莫尔-特兰贝贾克综合征
Hiroaki Hanafusa,Yusuke Ishida,Ryosuke Bo et al.
Hiroaki Hanafusa et al.
Background: Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative disorder caused by pathogenic variants in TIMM8A. Of the 39 previously reported disease-causing variants in the TIMM8A, five are splic...
Naily Athirah Hamidun Majid,Choong Yi Fong,Subhashini Jayanath et al.
Naily Athirah Hamidun Majid et al.
Background: Children with epilepsy (CWE) are at risk of executive function (EF) deficits that may affect their behaviour, parenting stress and health related quality of life (HRQOL). This study aimed to i) determine the p...
Emerging disease-modifying therapies for Angelman syndrome: A comprehensive review for pediatric neurologists [0.03%]
天使人综合症的新兴疾病修正疗法：对儿科神经学家的全面回顾
Debopam Samanta
Debopam Samanta
Angelman syndrome (AS), a rare neurogenetic disorder affecting approximately 1 in 15,000 live births, results from loss of functional UBE3A gene expression and manifests with severe developmental delay, intellectual disability, absent speec...
From a caregiver perspective: Quality of life of children with epilepsy and autism spectrum disorder - a single site case-control study [0.03%]
从照料者角度看：癫痫合并自闭症儿童生活质量-单中心病例对照研究
Laura D Fonseca,Sydney Carnes,Gogi Kumar
Laura D Fonseca
Background: We aim to investigate the quality of life (QoL) in children with idiopathic generalized epilepsy (IGE) compared to children with epilepsy and autism spectrum disorder (ASD) and their respective caregiver's QOL...
Management of febrile seizures in Türkiye: A nationwide survey of pediatricians and pediatric neurologists [0.03%]
土耳其儿科医生和儿科神经学家对发热性发作的管理：全国调查
Özben Akıncı Göktaş,Ayşe Nur Coşkun
Özben Akıncı Göktaş
Objective: To compare treatment preferences and decision-making patterns of pediatricians and pediatric neurologists in Türkiye regarding febrile seizure (FS) management. ...
Management of pediatric status epilepticus after hospital arrival in Japan: A nationwide questionnaire survey [0.03%]
日本住院后儿童癫痫持续状态管理全国问卷调查结果
Masahiro Nishiyama,Yuki Ueda,Ryuki Matsuura et al.
Masahiro Nishiyama et al.
Background: Status epilepticus (SE) is a neurological emergency requiring rapid, stepwise treatment. In Japan, the Guidelines for the Treatment of Pediatric Status Epilepticus 2023 (GL2023) were published; however, real-w...
Post-stimulus rebound of EEG power in response to vocal and non-vocal sounds in children with and without autism spectrum disorder: An exploratory study [0.03%]
自闭症谱系障碍儿童和非自闭症儿童对语音和非语音声音的刺激后脑电功率恢复：一项探索性研究
Atsuko Gunji,Hiroshige Takeichi,Kota Suzuki et al.
Atsuko Gunji et al.
Introduction: This hypothesis-generating study examined voice perception to find a straightforward measure of communication difficulties associated with autism spectrum disorder (ASD). Whereas face and voice are the most ...
Outcomes of combination therapy with nusinersen, onasemnogene abeparvovec, and risdiplam over 3.5 years in a patient with prenatally diagnosed spinal muscular atrophy type 0: A case report [0.03%]
一例宫内诊断的脊髓性肌萎缩症0型患者接受nusinersen、onasemnogene abeparvovec和risdiplam联合治疗3.5年的结局报告：病例报告
Yukimune Okubo,Noriko Togashi,Yuko Morishita et al.
Yukimune Okubo et al.
Background: Recently introduced disease-modifying therapies have markedly improved survival and motor outcomes, particularly when initiated presymptomatically or in the early symptomatic stage. However, reports on treatme...
The impact of gestational diabetes mellitus on fetal neural development: A systematic review [0.03%]
妊娠期糖尿病对胎儿神经发育的影响：系统综述
Zenia Safwan,Emaan Ijaz,Hafsa Shamim et al.
Zenia Safwan et al.
Objective: To synthesise existing research on the impact of gestational diabetes mellitus (GDM) on fetal neural development and subsequent cognitive function in offspring. ...