University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
NeuroPace, Inc., Mountain View, CA, USA.
Epilepsia Open. 2021 Jun;6(2):419-424. doi: 10.1002/epi4.12481. Epub 2021 Mar 13.
Tuberous sclerosis complex (TSC) is a genetic disorder primarily characterized by the development of multisystem benign tumors. Epilepsy is the most common neurologic manifestation, affecting 80%-90% of TSC patients. The diffuse structural brain abnormalities and the multifocal nature of epilepsy in TSC pose diagnostic challenges when evaluating patients for epilepsy surgery.
We retrospectively reviewed the safety experience and efficacy outcomes of five adult TSC patients who were treated with direct brain-responsive neurostimulation (RNS System, NeuroPace, Inc).
The average follow-up duration was 20 months. All five patients were responders (≥50% disabling seizure reduction) at last follow-up. The median reduction in disabling seizures was 58% at 1 year and 88% at last follow-up. Three of the five patients experienced some period of seizure freedom ranging from 3 months to over 1 year.
In this small case series, we report the first safety experience and efficacy outcomes in patients with TSC-associated drug-resistant focal epilepsy treated with direct brain-responsive neurostimulation.
结节性硬化症（TSC）是一种主要表现为多系统良性肿瘤形成的遗传性疾病。癫痫是最常见的神经系统表现，影响 80%-90%的 TSC 患者。在评估癫痫手术患者时，弥漫性结构性脑异常和 TSC 中的多灶性癫痫给诊断带来了挑战。
我们回顾性分析了 5 例接受直接脑反应性神经刺激（RNS 系统，NeuroPace，Inc.）治疗的成年 TSC 患者的安全性经验和疗效结果。
平均随访时间为 20 个月。所有 5 例患者在最后一次随访时均为应答者（≥50%的致痫性发作减少）。1 年时无致痫性发作减少中位数为 58%，最后一次随访时为 88%。5 例患者中有 3 例在 3 个月至 1 年以上的时间内出现了一段时间的无癫痫发作。
在本小病例系列中，我们报告了首例使用直接脑反应性神经刺激治疗伴有药物难治性局灶性癫痫的 TSC 相关患者的安全性经验和疗效结果。
