Mir Ali, Qahtani Mohammed, Bashir Shahid
Department of Pediatric Neurology, Neuroscience Center, King Fahad Specialist Hospital, Dammam, Saudi Arabia.
Neuroscience Center, King Fahad Specialist Hospital, Dammam, Saudi Arabia.
J Pediatr Genet. 2020 Dec;9(4):252-257. doi: 10.1055/s-0039-3401028. Epub 2019 Dec 24.
Epileptic spasm (ES) is one of the seizure types which is difficult to treat. Next-generation sequencing has facilitated rapid gene discovery that is linked to ES and being one of them. Genotype-driven precision medicine is on the horizon and is a targeted treatment approach toward the precise molecular cause of the disease. gene encodes for a subunit of N-methyl-D-aspartate (NMDA) receptor and it has been suggested from in vitro studies and few case reports that memantine, a NMDA receptor antagonist, was shown to reduce seizures in patients with mutations. Here, we describe a patient with a novel mutation and severe drug-resistant ES who became seizure free with memantine.
癫痫性痉挛（ES）是难治性癫痫发作类型之一。新一代测序技术推动了与ES相关的基因快速发现，[此处原文“being one of them”指代不明，翻译存疑，可根据上下文进一步明确后调整]。基因型驱动的精准医学即将出现，是针对疾病精确分子病因的靶向治疗方法。[此处原文“gene encodes for...”缺少限定词，翻译存疑，可根据上下文补充后调整]基因编码N-甲基-D-天冬氨酸（NMDA）受体的一个亚基，体外研究和少数病例报告表明，NMDA受体拮抗剂美金刚可减少携带[此处原文“ mutations”缺少限定词，翻译存疑，可根据上下文补充后调整]突变患者的癫痫发作。在此，我们描述了一名患有新型[此处原文“ mutation”缺少限定词，翻译存疑，可根据上下文补充后调整]突变且严重耐药性ES的患者，其使用美金刚后癫痫发作消失。
