在TBC1D24相关的临床轨迹和药物反应
Ealing Mondragon1, Jan H Magielski2,3,4, Bintou Bane2,3,4
1Department of Pediatrics and Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
TBC1D24基因变异导致严重和神经发育障碍. 费诺巴比塔尔,牛炭bazepine,和托皮拉玛特显示承诺在管理这些患者的发作.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 儿科 儿科 儿科
背景情况:
- 在TBC1D24基因中的双变异是和神经发育障碍的罕见原因.
- 这些疾病可以表现为严重的发育性和性脑病变.
研究的目的:
- 划分与TBC1D24相关疾病的个体的纵向病史.
- 评估各种抗发作药物 (ASM) 在治疗与TBC1D24变体相关的方面的有效性.
主要方法:
- 分析了15名患有TBC1D24相关疾病的个人电子病历数据.
- 利用人类现象型本体学记录神经病史和药物反应超过197个患者年.
主要成果:
- 个体呈现出早期发作 (中位发作3个月),频繁的焦点肌发作.
- 焦点发作 (88%) 的最大患病率发生在6.25-7.75岁之间,肌发作 (80%) 在9-10岁之间,状态 (90%) 在9-11个月之间.
- 费诺巴比他,牛巴比他和托皮拉在管理方面表现最有前途;Everolimus,费诺巴比他和牛巴比他在实现自由或减少方面是有效的.
结论:
- 与TBC1D24相关的疾病的特征是严重的耐药性,早期发作焦点,肌和状态发作.
- 这项研究提供了对疾病过程和治疗反应的关键见解,有助于为TBC1D24疾病的临床试验做好准备.
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