精密医学：vinpocetine是与GabRG2相关癫痫的潜在治疗方法。
摘要来源：
癫痫疾病。 2023 Jun; 25（3）：383-389。 EPUB 2023 5月25日。PMID： 37536979 37536979 LEDER，ALEC AEBY
文章隶属关系：Despoina Mandelenaki
摘要：
简介： gabrg2基因的致病变异，与gabrg2基因相关，与gabaa subnit subnit and epresist相关，已经与之相关，已经与之相关。癫痫。 Vinpocetine has been previously reported efficacious in a patient harboring a GABRB3 pathogenic variant, encoding another GABAA receptor subunit.
CASE PRESENTATION: We describe a patient with GABRG2-related drug-resistant epilepsy who improved after vinpocetine t布局。一个具有癫痫家族史的8岁男孩在6个月大时被诊断出患有早发作性癫痫病，并用丙戊酸钠和乙糖胺治疗未成功治疗。在6岁时，尽管拉莫三嗪附加组件以及学习困难，他仍出现了普遍的强直性癫痫发作和越来越多的缺勤。脑MRI正常，视频EEG遥测表现出多种肌阵挛性缺失。癫痫基因面板分析显示GABRG2致病变体C.254 t> a p。（ile85lys）（NM_198903.2）（nm_198903.2），是从探险父亲那里继承的。癫痫发作对几种药物有抵抗力。 After treatment with vinpocetine add-on, the patient showed a dramatic initial response, further reduction of seizures, and improvement of his cognitive functions.
CONCLUSION: This case illustrates that vinpocetine could be considered in drug-resistant epilepsies related to GABRG2 in accordance with the principles 的精密药物。