Abstract：
Genetic generalized epilepsies (GGEs) are thought to represent disorders of thalamocortical networks. There are currently no well-established non-pharmacologic treatment options for patients with drug-resistant GGE. NeuroPace\'s Responsive Neurostimulation (RNS) System was approved by the United States Food and Drug Administration to treat focal seizures with up to two ictal foci. We report on three adults with drug-resistant GGE who were treated with thalamic RNS. Given the severity of their epilepsies and the potential ictogenic role of the thalamus in the pathophysiology of GGE, the RNS System was palliatively implanted with leads in the bilateral anterior thalamic nuclei (ANT) of these patients. The ANT was selected because it was demonstrated to be a safe target. We retrospectively evaluated metrics including seizure frequency over 18-32 months. One patient required explantation due to infection. The other two patients were clinical responders. By the end of the observation period reported here, one patient was seizure-free for over 9 months. All three self-reported an improved quality of life. The clinical response observed in these patients provides \'proof-of-principle\' that GGE may be treatable with responsive thalamic stimulation. Our results support proceeding to a larger study investigating the efficacy and safety of thalamic RNS in drug-resistant GGE.
摘要：
遗传性全身性癫痫（GGE）被认为代表了丘脑皮质网络的疾病。目前尚无针对耐药GGE患者的完善的非药物治疗选择。NeuroPace的响应性神经刺激（RNS）系统已获得美国食品和药物管理局的批准，用于治疗多达两个发作灶的局灶性癫痫发作。我们报告了三名患有耐药GGE的成年人，他们接受了丘脑RNS治疗。鉴于其癫痫的严重程度和丘脑在GGE病理生理学中的潜在作用，在这些患者的双侧丘脑前核(ANT)姑息性植入了RNS系统导线.选择ANT是因为它被证明是安全的目标。我们回顾性评估了包括18-32个月内癫痫发作频率在内的指标。一名患者因感染而需要移植。另外两名患者是临床应答者。到这里报告的观察期结束时，1例患者超过9个月无癫痫发作.所有三个人都自我报告了生活质量的改善。在这些患者中观察到的临床反应提供了“原理证明”，即GGE可以通过响应性丘脑刺激来治疗。我们的结果支持进行更大的研究，研究丘脑RNS在耐药GGE中的疗效和安全性。
