Wang Di, Zhou Qilin, Ren Liankun, Lin Yicong, Gao Lehong, Du Jialin, Wang Yuping
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China; The Beijing Key Laboratory of Neuromodulation, Beijing 100053, China.
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China; The Beijing Key Laboratory of Neuromodulation, Beijing 100053, China; Center of Epilepsy, Beijing Institute for Brain Disorder, Beijing 100069, China; Department of Pediatrics, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.
Clin Neurol Neurosurg. 2019 Jun;181:64-66. doi: 10.1016/j.clineuro.2019.03.020. Epub 2019 Mar 28.
The target brain binding site of levetiracetam (LEV) is synaptic vesicle glycoprotein 2A (SV2A). Up to now, only a homozygous pathogenic SV2A gene mutation was reported in human. We now report a novel heterozygous pathogenic SV2A gene mutation both in a girl and her mother result in epilepsy and poor response to LEV. Furthermore, the girl developed a new seizure type after using LEV. Our report had a clinical relevance that LEV could potentially produce contradictory efficacy in patients with SV2A gene mutation. If patients' seizures became exacerbated while using LEV, SV2A gene testing is recommended.
左乙拉西坦（LEV）的脑内靶点结合位点是突触囊泡糖蛋白2A（SV2A）。截至目前，人类中仅报道过纯合致病性SV2A基因突变。我们现报告一名女孩及其母亲均存在一种新的杂合致病性SV2A基因突变，该突变导致癫痫发作且对LEV反应不佳。此外，该女孩在使用LEV后出现了一种新的癫痫发作类型。我们的报告具有临床意义，即LEV在SV2A基因突变患者中可能产生矛盾的疗效。如果患者在使用LEV时癫痫发作加剧，建议进行SV2A基因检测。
