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GRIN2B 癫痫性脑病患儿对“美金刚”的良好反应。

Favorable Response to "Memantine" in a Child with GRIN2B Epileptic Encephalopathy.

机构信息

Department of Paediatrics, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu.

Division of Paediatric Neurology, Department of Neurology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu.

出版信息

Neuropediatrics. 2022 Aug;53(4):287-290. doi: 10.1055/s-0041-1739130. Epub 2021 Nov 29.

Abstract

is a gene encoding subunit under the family of N-methyl D-aspartate (NMDA) receptors, which is responsible for neurogenesis and cognitive processes. The role of NMDA receptor antagonists like memantine is being explored for therapies in drug-resistant epilepsies. Here, we present a case of a 20-month-old boy who presented with refractory epileptic spasms. Upon failure of multiple antiepileptic drugs, he was started on oral memantine. There was a significant reduction in average seizure episodes by ∼80%. The use of memantine along with antiepileptic drug polytherapy has proved to be beneficial in our case. Our experience with memantine and favorable outcome opens up the scope of more research into the use of NMDA receptor antagonist as a drug option for refractory epilepsies with proven genetic mutation and hence improves the overall neurodevelopmental outcome and survival chance.

摘要

是一种基因编码 NMDA 受体家族的亚基,负责神经发生和认知过程。NMDA 受体拮抗剂如美金刚正在探索用于治疗耐药性癫痫。在这里,我们报告了一例 20 个月大的男孩,他表现为难治性癫痫性痉挛。在多种抗癫痫药物治疗失败后,他开始口服美金刚。平均发作次数减少了约 80%。美金刚联合抗癫痫药物多药治疗在我们的病例中被证明是有益的。我们使用美金刚的经验和良好的结果为 NMDA 受体拮抗剂作为具有已知基因突变的难治性癫痫的药物选择提供了更多研究的机会,从而改善了整体神经发育结局和生存机会。

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