Differential diagnosis of nonepileptic twilight state with convulsive manifestations after febrile seizures [0.03%]
热性惊厥后伴阵挛发作的非癫痫性朦胧状态的鉴别诊断
Hiroyuki Miyahara,Tomoyuki Akiyama,Kenji Waki et al.
Hiroyuki Miyahara et al.
Background: Nonepileptic twilight state with convulsive manifestations (NETC) is a nonepileptic state following a febrile seizure (FS), which may be misdiagnosed as a prolonged seizure and result in overtreatment. We aime...
Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations [0.03%]
幼年发病以癫痫持续状态和阵发性运动障碍为主要表现的脑病：3例新型ATP1A3基因突变患者的临床分析
Pauline Marzin,Cyril Mignot,Nathalie Dorison et al.
Pauline Marzin et al.
Objective: Heterozygous mutations in the ATP1A3 gene are responsible for various neurological disorders, ranging from early-onset alternating hemiplegia of childhood to adult-onset dystonia-parkinsonism. Next generation s...
Long-term efficacy and safety of lamotrigine monotherapy in Japanese and South Korean pediatric patients with newly diagnosed typical absence seizures: An open-label extension study [0.03%]
拉莫三嗪单药治疗日本和韩国新诊断的典型失神性癫痫患儿的长期有效性和安全性：一项开放标签延长研究
Sawa Yasumoto,Yoko Ohtsuka,Katsuaki Sato et al.
Sawa Yasumoto et al.
Purpose: To investigate the efficacy and safety of long-term lamotrigine (LTG) monotherapy in Japanese and South Korean pediatric patients with newly diagnosed typical absence seizures. ...
Clinical Trial
Brain & development. 2018 Oct;40(9):786-791. DOI:10.1016/j.braindev.2018.05.005 2018
An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU [0.03%]
一名HNRNPU新移码突变患者的急性脑病伴二相性癫痫及晚期弥散减低综合征、偏瘫和难治性癫痫发作的病例报告
Shino Shimada,Hirokazu Oguni,Yui Otani et al.
Shino Shimada et al.
Microdeletions in the 1q44 region encompassing the HNRNPU gene have been associated with infantile spasms and hemiconvulsion-hemiplegia-epilepsy syndrome. Recent studies have revealed that heterozygous HNRNPU variants resulted in early onse...
Daisuke Sawada,Katsunori Fujii,Sonoko Misawa et al.
Daisuke Sawada et al.
Background: Guillain-Barré syndrome is an acute immune-mediated peripheral polyneuropathy. Neuroimaging findings from patients with this syndrome have revealed gadolinium enhancement in the cauda equina and in the anteri...
Evaluation index for asymmetric ventricular size on brain magnetic resonance images in very low birth weight infants [0.03%]
极低出生体重儿脑部磁共振成像评估心室大小不对称的指标研究
Toshihiko Ikuta,Masami Mizobuchi,Yoshinori Katayama et al.
Toshihiko Ikuta et al.
Objective: Asymmetric ventriculomegaly is often evident on brain magnetic resonance imaging (MRI) in very low birth weight infants (VLBWI) and is interpreted as white matter injury. However, no evaluation index for asymme...
Multicenter Study
Brain & development. 2018 Oct;40(9):753-759. DOI:10.1016/j.braindev.2018.05.007 2018
A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings [0.03%]
日本两兄弟的ZC4H2基因新突变(K209N)与先天性多发性关节畸形和智力障碍：K209N突变特征及临床表现
Daiki Kondo,Atsuko Noguchi,Ikuko Takahashi et al.
Daiki Kondo et al.
Objective: To reveal a molecular lesion in the ZC4H2 gene in a Japanese family with arthrogryposis multiplex congenita (AMC) and intellectual disability (ID), and to characterize clinical features of patients with ZC4H2 g...
Association of developing childhood epilepsy subsequent to febrile seizure: A population-based cohort study [0.03%]
发热性惊厥后发生儿童癫痫的关联性：基于人口队列研究
Lin-Mei Chiang,Go-Shine Huang,Chi-Chin Sun et al.
Lin-Mei Chiang et al.
Purpose: Epilepsy is an important neurological condition that frequently associated with neurobehavioral disorders in childhood. Our aim was to identify the risk of developing epilepsy subsequent to febrile seizure and th...
Neurodevelopmental outcomes in children with prenatally diagnosed corpus callosal abnormalities [0.03%]
胎儿期诊断胼胝体异常患儿的神经发育结局
Hye-Ryun Yeh,Hyo-Kyoung Park,Hyun-Jin Kim et al.
Hye-Ryun Yeh et al.
Objective: Although corpus callosal abnormalities are among the most common brain malformations detected prenatally, few previous studies have described the neurodevelopmental outcomes of children with this condition. The...
Intelligence test at preschool-age predicts reading difficulty among school-aged very low birth weight infants in Japan [0.03%]
学龄前智力测试可以预测日本极低体重早产儿的阅读困难状况
Akihito Takeuchi,Tatsuya Ogino,Tatsuya Koeda et al.
Akihito Takeuchi et al.
Objective: To elucidate whether the results of an intelligence test at preschool age are predictive of reading difficulty (RD) at school age among very low birth weight infants (VLBWI). ...