在8p相关疾病中对的评估
Megan Abbott1, Katie Angione1, Megan Stringfellow2
1Precision Medicine Institute, Children's Hospital Colorado, Anschutz Medical Campus, 13123 East 16th Avenue, Aurora, CO 80045, United States; University of Colorado, Anschutz Medical Campus, School of Medicine, Department of Pediatrics, Section of Neurology, 13001 E 17th Pl, Aurora, CO 80045, United States.
影响32%的8p相关疾病患者,发病时间约为3.4岁. 大多数病例都得到了良好的控制,但患病率因遗传亚型而异.
科学领域:
- 遗传学和神经学 遗传学和神经学
- 临床的表型化 临床的表型化
- 染色体异常 染色体异常
背景情况:
- 与8p相关的疾病涉及8号染色体短臂的遗传变化.
- 在这些罕见的遗传疾病中,是常见的担忧.
- 了解的模式对于患者的管理至关重要.
研究的目的:
- 在患有8p相关疾病的患者中表征现型.
- 确定发病率,发病年龄,治疗疗效和EEG特征.
- 分析呈现的基因型特异性差异.
主要方法:
- 对162名患有8p相关疾病的患者进行了回顾性图表审查.
- 从科罗拉多州儿童医院和项目8p基金会收集的数据.
- 分析包括人口统计,基因型,史和EEG发现.
主要成果:
- 32%的患者经历了发作,平均发作时间为3.4年.
- 在二重复 (8p) 显示了的最高流行率 (37%);8p重复是最低的 (15%).
- 大多数病例得到了良好的控制,许多人实现了无发作.
结论:
- 是8p相关疾病的重要特征,但通常是可以控制的.
- 基因型影响的流行率,突出了对量身定制护理的需要.
- 建议在更大的队列中进行进一步的研究,以证实这些发现.
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