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Levetiracetam-induced a new seizure type in a girl with a novel SV2A gene mutation

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收录情况： ◇ SCIE

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机构： [a]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China [b]The Beijing Key Laboratory of Neuromodulation, Beijing 100053, China [c]Center of Epilepsy, Beijing Institute for Brain Disorder, Beijing 100069, China [d]Department of Pediatrics, Xuanwu Hospital, Capital Medical University, Beijing 100053, China

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关键词： Levetiracetam Myoclonus Novel mutation Spasm SV2A

摘要：

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. ? 2019 Elsevier B.V.

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出版当年[2018]版：

大类 | 4 区医学

小类 | 4 区临床神经病学 4 区外科

最新[2025]版：

大类 | 4 区医学

小类 | 4 区临床神经病学 4 区外科

JCR分区：

出版当年[2017]版：

Q3 SURGERY Q4 CLINICAL NEUROLOGY

最新[2023]版：

Q2 SURGERY Q3 CLINICAL NEUROLOGY

影响因子： 1.8 最新[2023版] 1.8 最新五年平均 1.736 出版当年[2017版] 1.602 出版当年五年平均 1.381 出版前一年[2016版] 1.672 出版后一年[2018版]

第一作者：

第一作者机构： [a]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China [b]The Beijing Key Laboratory of Neuromodulation, Beijing 100053, China

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通讯作者：

通讯机构： [a]Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China [*1]No. 45 Changchunjie Street, Xicheng District, 100053 Beijing, China. [b]The Beijing Key Laboratory of Neuromodulation, Beijing 100053, China [c]Center of Epilepsy, Beijing Institute for Brain Disorder, Beijing 100069, China [d]Department of Pediatrics, Xuanwu Hospital, Capital Medical University, Beijing 100053, China

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