左乙拉西坦在一名患有新型SV2A基因突变的女孩中诱发了一种新的癫痫发作类型。
Levetiracetam-induced a new seizure type in a girl with a novel SV2A gene mutation.
作者信息
Wang Di, Zhou Qilin, Ren Liankun, Lin Yicong, Gao Lehong, Du Jialin, Wang Yuping
机构信息
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.
出版信息
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。
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