SCN8A encephalopathy is a developmental and epileptic encephalopathy (DEE) caused by de novo gain‐of‐function mutations of sodium channel Nav1.6 that result in neuronal hyperactivity. Affected individuals exhibit early onset drug‐resistant seizures, developmental delay, and cognitive impairment. This study was carried out to determine whether reducing the abundance of the Scn8a transcript with an antisense oligonucleotide (ASO) would delay seizure onset and prolong survival in a mouse model of SCN8A encephalopathy.

中文翻译：

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Scn8a 反义寡核苷酸在 SCN8A 脑病和 Dravet 综合征小鼠模型中具有保护作用

SCN8A 脑病是一种发育性和癫痫性脑病 (DEE)，由钠通道 Nav1.6 的新功能获得性突变引起，导致神经元过度活跃。受影响的个体表现出早发性耐药性癫痫发作、发育迟缓和认知障碍。进行这项研究是为了确定用反义寡核苷酸 (ASO) 降低 Scn8a 转录物的丰度是否会延迟癫痫发作并延长 SCN8A 脑病小鼠模型的生存期。