Expanding the Genotypic Spectrum of SLC18A2 Mutation-Related Disorder-A Novel Mutation and Review of Literature [0.03%]
SLC18A2突变相关疾病的临床表型研究及文献复习
Sophia Brewer,Praveen Kumar Ramani,Kapil Arya
Sophia Brewer
Brain monoamine vesicular transporter deficiency is a rare autosomal recessive neurometabolic disorder caused by mutations in the SLC18A2 gene, which encodes vesicular monoamine transporter 2 (VMAT2). VMAT2 is essential for packaging neurot...
Feasibility and Acceptability of a Self-Management Education Program for Adolescents with Headaches: A Pilot Study [0.03%]
针对头痛青少年开展自我管理教育项目的可行性与接受度——一项探索性研究
Nicole Margaret Whitley,Daniela Pohl,Jennifer Ann Knopp-Sihota et al.
Nicole Margaret Whitley et al.
Headache disorders are one of the most frequent pediatric health complaints and are associated with impairments in daily functioning and increased rates of anxiety and depression. In adults with headache disorders, self-management education...
Managing Fever and Vaccination Risks in Dravet Syndrome: From Pathophysiology to Clinical Practice [0.03%]
Dravet综合征的发热与疫苗接种风险的管理：从病理生理学到临床实践
Alessandro Ferretti,Marco Bianchi,Mattia Costa et al.
Alessandro Ferretti et al.
Dravet syndrome (DS), a severe developmental and epileptic encephalopathy often linked to SCN1A mutations, is defined by a profound thermosensitivity, making fever and hyperthermia potent seizure triggers. This review synthesizes evidence-b...
A Call for More Inclusive, Patient-Centered Nomenclature for Antipsychotics in the Treatment of Autism Spectrum Disorder [0.03%]
提倡使用更具包容性、以患者为中心的名词来命名自闭症谱系障碍抗精神病药物治疗中的用药
Julia Totten,Navneet Kaur,Nilaksa Sivanenthiran et al.
Julia Totten et al.
Risperidone and aripiprazole are US Food and Drug Administration (FDA)-approved to treat irritability and aggression in autism spectrum disorder. This is a time to reflect on whether the terminology of these medications is respectful to thi...
Predictors of Seizure Development in Septo-optic Dysplasia: A Retrospective Study [0.03%]
Septooptic dysplasia患者癫痫发作的预测因素：一项回顾性研究
Megana Iyer,Grae McCarty,Theresa Kluthe et al.
Megana Iyer et al.
ObjectiveTo elucidate factors associated with epilepsy in children with septo-optic dysplasia (SOD).MethodPatients (
Electrophysiological and Quantitative Fingerprints of Landau-Kleffner Syndrome [0.03%]
Landau-Kleffner综合征的电生理及量化特征指纹图谱研究
Akshaya Rathin Sivaji,Jun Park
Akshaya Rathin Sivaji
Post-traumatic Hypertrophic Olivary Degeneration with Palatal Myoclonus-A Case Report [0.03%]
橄榄体萎缩性变性的后遗症并腭肌阵挛-病例报告
Katherine Bailey,Jacob T Hanson,Suad Khalil
Katherine Bailey
This is a case report of a 7-year-old boy with a medical history of a motor vehicle accident (MVA) 2 years previously. Two years post-MVA, he developed quivering and twitching of the right side of his lip, palate, and neck. Multiple antisei...
Intelligence Over Time in Children with Neurofibromatosis Type 1 Based on a Structured Natural History-Study [0.03%]
基于结构化自然史研究的I型神经纤维瘤病儿童的时间智力变化分析
Sandra van Abeelen,Jos G M Hendriksen,Anton de Louw et al.
Sandra van Abeelen et al.
This study examines the course of intelligence in children with neurofibromatosis type 1 (NF1) and factors influencing changes. In this cross-sectional and longitudinal study, 397 children were assessed at ages 3, 6, 11, and 15 years using ...
Hande Gazeteci Tekin,Özgen Hür,Fatma Kuşgöz et al.
Hande Gazeteci Tekin et al.
ObjectiveWe aimed to present a patient who developed a severe chorea after orthopedic surgery, plausibly related to multiple anesthetic agents.CaseAn otherwise healthy 11-year-old girl developed choreiform movements and distressing behavior...