Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) is a rare, developmental and epileptic encephalopathy most commonly associated with mutations in KCNT1, a potassium channel. Polymorphous migrating focal seizures begin within 6 months of life and are pharmacoresistant to standard anticonvulsants. Additional therapies are needed to decrease seizure frequency and subsequent developmental deterioration associated with EIMFS. Cannabidiol (CBD) has recently arisen in public interest due to its potential in treatment-resistant epilepsies as demonstrated in randomized controlled trials for Dravet Syndrome and Lennox-Gastaut Syndrome. Here we evaluate the response of three patients, all diagnosed with EIMFS secondary to KCNT1 mutations, to pharmaceutical grade CBD. Two patients showed no benefit and have since voluntarily stopped CBD. One patient showed no overall reduction in seizure frequency, however showed a notable reduction in seizure intensity with possible developmental progression. Further studies are needed to assess the potential benefit of CBD in treatment-resistant epilepsies such as EIMFS, with a focus on early identification and intervention.

中文翻译：

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对与 KCNT1 突变相关的迁移性局灶性癫痫发作的婴儿癫痫中大麻二酚的反应：一项开放标签、前瞻性、干预性研究

婴儿期癫痫伴迁移性局灶性癫痫发作 (EIMFS) 是一种罕见的、发育性和癫痫性脑病，最常与 KCNT1（一种钾通道）突变相关。多形性迁移性局灶性癫痫发作在出生后 6 个月内开始，对标准抗惊厥药具有耐药性。需要额外的治疗来减少与 EIMFS 相关的癫痫发作频率和随后的发育恶化。正如 Dravet 综合征和 Lennox-Gastaut 综合征的随机对照试验所证明的那样，大麻二酚 (CBD) 最近因其在抗治疗癫痫方面的潜力而引起了公众的关注。在这里，我们评估了三名被诊断为继发于 KCNT1 突变的 EIMFS 的患者对药物级 CBD 的反应。两名患者没有表现出任何益处，并自此自愿停止使用 CBD。一名患者的癫痫发作频率没有总体降低，但癫痫发作强度显着降低，可能会出现发育进展。需要进一步的研究来评估 CBD 在 EIMFS 等难治性癫痫中的潜在益处，重点是早期识别和干预。