[由5型自体主导精神障碍引起的自体主导精神障碍
Xiao-Le Wang1, Ya-Nan Tian, Chen Chen1
1Department of Pediatrics, Xiangya Hospital of Central South University, Changsha 410008, China.
概括
患有SYNGAP1基因突变的儿童经常经历早期发育迟缓和发作. 框架转移和无意义突变很常见,酸在大多数情况下有效治疗发作.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 神经学 神经学
背景情况:
- 自体主导性精神迟缓5型与SYNGAP1基因突变有关.
- 了解受影响儿童的临床和遗传特征对于诊断和管理至关重要.
结论:
- SYNGAP1突变导致儿童早期发育迟缓和频繁的发作.
- 框架转移和无意义突变是主要的遗传改变.
- 酸在治疗发作方面表现出显著的有效性,有85%的发作反应,48%的发作通过单一治疗或组合治疗实现完全控制.
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