Background and purposePrimary mitochondrial diseases (PMDs) are common inborn errors of energy metabolism, with an estimated prevalence of one in 4300. These disorders typically affect tissues with high energy requirements, including heart, muscle and brain. Epilepsy may be the presenting feature of PMD, can be difficult to treat and often represents a poor prognostic feature. The aim of this study was to develop guidelines and consensus recommendations on safe medication use and seizure management in mitochondrial epilepsy.MethodsA panel of 24 experts in mitochondrial medicine, pharmacology and epilepsy management of adults and/or children and two patient representatives from seven countries was established. Experts were members of five different European Reference Networks, known as the Mito InterERN Working Group. A Delphi technique was used to allow the panellists to consider draft recommendations on safe medication use and seizure management in mitochondrial epilepsy, using two rounds with predetermined levels of agreement.ResultsA high level of consensus was reached regarding the safety of 14 out of all 25 drugs reviewed, resulting in endorsement of National Institute for Health and Care Excellence guidelines for seizure management, with some modifications. Exceptions including valproic acid in POLG disease, vigabatrin in patients with γ‐aminobutyric acid transaminase deficiency and topiramate in patients at risk for renal tubular acidosis were highlighted.ConclusionsThese consensus recommendations describe our intent to improve seizure control and reduce the risk of drug‐related adverse events in individuals living with PMD‐related epilepsy.

中文翻译：

---

原发性线粒体疾病患者癫痫发作的管理：InterERNs 线粒体工作组的共识声明

背景和目的原发性线粒体疾病 (PMD) 是常见的先天性能量代谢缺陷，估计患病率为 4300 分之一。这些疾病通常影响能量需求较高的组织，包括心脏、肌肉和大脑。癫痫可能是 PMD 的表现特征，可能难以治疗，并且通常代表不良的预后特征。本研究的目的是制定有关线粒体癫痫安全用药和癫痫发作管理的指南和共识建议。方法由 24 名成人和/或儿童线粒体医学、药理学和癫痫管理专家以及来自 7 个国家的 2 名患者代表组成的小组进行了研究。已确立的。专家们是五个不同欧洲参考网络（称为 Mito InterERN 工作组）的成员。使用德尔菲技术，小组成员可以考虑关于线粒体癫痫安全用药和癫痫发作管理的建议草案，使用两轮并达到预定的一致程度。结果就所有 25 种药物中的 14 种药物的安全性达成了高度共识进行了审查，最终获得了国家健康与护理卓越研究所癫痫管理指南的认可，并进行了一些修改。例外情况包括丙戊酸波尔格强调了在患有 γ-氨基丁酸转氨酶缺乏症的患者中使用氨己烯酸，以及在有肾小管性酸中毒风险的患者中使用托吡酯。结论这些共识建议描述了我们改善 PMD 患者癫痫发作控制并降低药物相关不良事件风险的意图相关性癫痫。