用吡仑帕奈治疗拉福拉病时癫痫发作的控制及神经功能障碍的改善
Seizure control and improvement of neurological dysfunction in Lafora disease with perampanel.
作者信息
Dirani Maya, Nasreddine Wassim, Abdulla Fatima, Beydoun Ahmad
机构信息
Division of Pediatric Neurology, American University of Beirut Medical Center, Lebanon.
Department of Neurology, American University of Beirut Medical Center, Lebanon.
出版信息
Epilepsy Behav Case Rep. 2014 Sep 29;2:164-6. doi: 10.1016/j.ebcr.2014.09.003. eCollection 2014.
Abstract
Lafora disease is a rare and fatal disease characterized by seizures, progressive cognitive and behavioral deterioration, as well as cerebellar dysfunction. Currently, there is no efficacious treatment that will control the seizures and improve the cognitive decline in this disease. We report a patient with Lafora disease who experienced a dramatic amelioration in her seizure frequency as well as the associated neurological and cognitive dysfunction following initiation of treatment with perampanel administered as monotherapy. Perampanel is the first potentially efficacious treatment for Lafora disease. We discuss a potential mechanism for the efficacy of perampanel in this disease.
摘要
拉福拉病是一种罕见的致命疾病，其特征为癫痫发作、进行性认知和行为衰退以及小脑功能障碍。目前，尚无有效的治疗方法来控制这种疾病的癫痫发作并改善认知衰退。我们报告了一名拉福拉病患者，在开始使用吡仑帕奈单药治疗后，其癫痫发作频率以及相关的神经和认知功能障碍有了显著改善。吡仑帕奈是首个对拉福拉病可能有效的治疗药物。我们讨论了吡仑帕奈在该疾病中发挥疗效的潜在机制。
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