Rubio-Nazábal E, Álvarez-Pérez P, Cores-Bartolomé C, Lema-Facal T
Complejo Hospitalario Universitario de A Coruña, A Coruña, España.
Centro de Salud de Adormideras, A Coruña, España.
Rev Neurol. 2022 Sep 16;75(6):159-163. doi: 10.33588/rn.7506.2021397.
Mioclonic progressive epilepsy (MPE) includes a clinical and genetical heterogeneous group of neuro-degenerative disorders that associate spontaneous and action-induced myoclonus as well as progressive cognitive impairment. Lafora`s disease is a subtype of MPE with autosomical recessive inheritance due to a mutation in EPM2A or EPM2B genes. Seizures, especially myoclonus, are often refractary to antiepileptic drugs (AD).
In this article we report a patient with Lafora´s disease diagnosis, previously resistant to several AD tested with good and sustained response to zonisamide. Indeed, we describe a brief review about the efficacy of zonisamida in MPE.
Zonisamide may be considered as a good therapeutic alternative in MPE.
肌阵挛性进行性癫痫（MPE）包括一组临床和遗传异质性的神经退行性疾病，伴有自发性和动作诱发性肌阵挛以及进行性认知障碍。拉福拉病是MPE的一种亚型，由于EPM2A或EPM2B基因突变而呈常染色体隐性遗传。癫痫发作，尤其是肌阵挛，通常对抗癫痫药物（AD）耐药。
在本文中，我们报告了一名被诊断为拉福拉病的患者，该患者之前对多种测试过的AD耐药，但对唑尼沙胺有良好且持续的反应。事实上，我们简要回顾了唑尼沙胺在MPE中的疗效。
唑尼沙胺可被视为MPE的一种良好治疗选择。
