遗传性和早期发作的发育性脑病变:一个多中心研究
Benedetta Cavirani1,2, Carlotta Spagnoli2, Stefano Giuseppe Caraffi3
1Child Neuropsychiatry Unit, Azienda USL di Parma, 43121 Parma, Italy.
International journal of molecular sciences
|January 27, 2024
概括
遗传早期儿童和发育性和性脑病变 (DEE) 具有广泛的遗传原因和临床结果. 这些情况往往导致耐药性发作和显著的神经发育挑战.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 儿和发育性和性脑病变 (DEE) 在儿童早期发作,越来越多地被认为是遗传病因.
- 这些疾病的结果范围很广,从良性到严重的残疾.
研究的目的:
- 追溯审查临床,遗传,EEG,神经成像和前三年发病患者的结局数据.
- 分析了来自意大利四个中心的168名患者的数据.
主要方法:
- 对168名在三岁之前被诊断患有或DEE的儿科患者的回顾性图表审查.
- 分析遗传数据 (单基因,CNV,染色体异常,意义不明的变异),临床表现,EEG,神经成像和长期结果 (平均随访14.75年).
主要成果:
- 在发作时发生普遍性发作的高发病率,药物耐药性,神经检查异常,全球发育迟缓,智力障碍和行为/精神伴随性疾病.
- 在单一的条件和副本数变异 (CNVs) 或染色体异常之间观察到不同的表现.
- 记录了广泛的表型和基因型谱,包括非典型和罕见的表型.
结论:
- 遗传早期儿童发作的和DEE表现出广泛的遗传和临床特征.
- 这些疾病带有复杂神经和神经精神现象的高风险,需要全面的管理.
关键词:
行为行为行为.发育性和性脑病变.发育延迟的发展延迟.药物耐药性是一种药物耐药性.是一种.遗传学 遗传学 遗传学 是一个智力障碍 智力障碍是一种智力障碍.神经发育障碍 神经发育障碍结果结果结果结果.更多相关视频
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