We describe an individual with refractory epilepsy with myoclonic-atonic seizures (EMAS) and a suspected pathogenic variant in SCN1B, who had substantial improvement with phenytoin treatment. It is unknown whether SCN1B-related epilepsy improves or worsens with sodium channel blockers (SCBs), and this case demonstrates their potential benefit.

中文翻译：

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在患有难治性癫痫和 SCN1B 变体的个体中使用苯妥英治疗显着改善癫痫发作。

我们描述了一个患有难治性癫痫伴肌阵挛-张力性癫痫发作 (EMAS) 和SCN1B 中疑似致病性变异的个体，他在苯妥英治疗后有显着改善。目前尚不清楚钠通道阻滞剂 (SCB)是否会改善或恶化SCN1B相关癫痫，该病例证明了它们的潜在益处。