Modelling IRF2BPL-related paediatric neuroregression in mice

在小鼠中模拟 IRF2BPL 相关的儿童神经退行性疾病

• 批准号: 486177
• 负责人: Pascual Danielle M
• 金额: $ 1.27万
• 依托单位: University of Manitoba
• 依托单位国家: 加拿大
• 项目类别: Studentship Programs
• 财政年份: 2022
• 资助国家: 加拿大
• 起止时间: 2022-12-01 至 2023-12-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=486177&lang=en
• 关键词: Ataxia; Autism Spectrum Disorder; Disease Models; Irf2bpl; Movement Disorders; Nedamss; Neurological Disease; Parkinsonism; Rare Disease; Seizures

Mutations in the gene IRF2BPL cause a severe neurological disorder in children. Patients reach typical developmental milestones but at about five years old, they begin to stumble, fall, and develop a progressive movement disorder until they are immobile i

基因IRF2BPL的突变会导致儿童严重的神经系统疾病。患者达到典型的发育里程碑，但在大约5岁时，他们开始蹒跚，跌倒，并发展为进行性运动障碍，直到他们不能移动。