发育性和性脑病变 - 发育性和性脑病变
Ingrid E Scheffer1,2,3, Sameer Zuberi4,5, Heather C Mefford6
1Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia. scheffer@unimelb.edu.au.
Nature reviews. Disease primers
|September 5, 2024
概括
发育性和性脑病变是一种严重的病状况,导致发育问题. 鉴定遗传原因使精准医学能够获得更好的患者结果.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 发育性和性脑病变 (DEE) 是一种严重的综合征,在婴儿或儿童时期发作.
- DEE出现发作,发育减缓/回归,以及诸如智力障碍和自闭症谱系障碍等众多并发症.
- 这些情况给患者,家庭和医疗保健系统带来了重大的终身负担.
研究的目的:
- 总结目前对DEE的理解,重点关注遗传病因和管理策略.
- 突出下一代测序在确定DEE遗传原因方面的作用.
- 强调整体管理和精准医学的重要性,以改善患者的治疗结果.
主要方法:
- 关于发育性和性脑病变的当前文献的综述.
- 从下一代测序研究中分析遗传发现.
- 讨论病理生理机制和管理方法.
主要成果:
- 在超过50%的DEE患者中,使用下一代测序确定了遗传原因.
- 已有900多个基因与DEE的单基因形式有关,涉及各种细胞过程.
- 多基因风险评分表明常见变异也影响表型变异性.
结论:
- 确定DEE的遗传病因对于开发有针对性的精确药物至关重要.
- 整体管理,考虑到综合征和病因学,对于患者的护理至关重要.
- 基因技术的进步正在改善这些破坏性神经系统疾病的诊断和治疗.
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