一名患有拉福拉病的患者中发现一种新型EPM2A突变，该患者在儿童期出现早期帕金森病症状。 - Suppr | 超能文献

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A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood.一名患有拉福拉病的患者中发现一种新型EPM2A突变，该患者在儿童期出现早期帕金森病症状。

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Pearls & Oy-sters: When Genetic Generalized Epilepsy Becomes Progressive.珍贵之物与棘手难题：当遗传性全身性癫痫进展时

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Clinical and genetic studies in patients with Lafora disease from Pakistan.对来自巴基斯坦的拉福拉病患者的临床和基因研究。

J Neurol Sci. 2017 Feb 15;373:263-267. doi: 10.1016/j.jns.2017.01.010. Epub 2017 Jan 4.

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Three patients with lafora disease: different clinical presentations and a novel mutation.三名患有拉福拉病的患者：不同的临床表现及一种新突变

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Lafora disease in a Malaysian with a rare mutation in the EPM2A gene.一名马来西亚人患拉福拉病，其EPM2A基因存在罕见突变。

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Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?拉佛拉进行性肌阵挛癫痫的表型变异：遗传修饰物的可能参与？

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A novel exon 3 mutation in a Tunisian patient with Lafora's disease.一个突尼斯早老性黑内障患者的新型外显子 3 突变。

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Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family.全外显子组测序在一个巴基斯坦家庭中发现了EPM2A基因的一个新的错义突变，该突变是拉福拉病的潜在病因。

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Epm2a knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a mice.与Epm2a小鼠相比，Epm2a基因敲入小鼠出现更早的认知衰退和更多的癫痫活动。

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Late onset Lafora disease and novel EPM2A mutations: breaking paradigms.迟发性拉福拉病与新型EPM2A突变：打破传统认知

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