Epilepsy Program. Neurology Department, Ruber Internacional Hospital, Madrid, Spain; Epilepsy Unit. Neuroscience Department, Corachan Clinic, Barcelona, Spain.
Epilepsy Unit. Neurology Department, Clínico San Carlos University Hospital, Madrid, Spain.
Epilepsy Behav. 2021 May;118:107946. doi: 10.1016/j.yebeh.2021.107946. Epub 2021 Apr 10.
This study was aimed to analyze the effectiveness of sodium channel blockers (SCBs) in CDKL5 deficiency disorder (CDD)-related epilepsy.
A retrospective, observational study was performed, including patients with CDD diagnosis evaluated between 2016 and 2019 at three tertiary Epilepsy Centers. Demographic, electroclinical and genetic features, as well as ASM treatments and their outcomes were analyzed, with special focus on SCBs.
Twenty-one patients evaluated at three tertiary Epilepsy Centers were included, of which 19 presented with epilepsy (90.5%); all had pathogenic mutations of CDKL5. Six patients (31.6%) were classified as SCB responders (more than 50% reduction), four being currently seizure free (mean seizure-free period of 8 years). Most frequent SCB drugs were oxcarbazepine (OXC), carbamazepine (CBZ), and lacosamide (LCM). None of them presented relevant adverse events. In contrast, three patients showed seizure aggravation in the non-responder group. When comparing both groups, responders had statistically significant younger age at SCB treatment and epilepsy onset, higher proportion of focal epileptiform activity and less frequent history of West syndrome.
The results of this study indicate that treatment with SCBs might be effective and safe in a subset of patients with CDD-related epilepsy.
本研究旨在分析钠离子通道阻滞剂（SCBs）在 CDKL5 缺乏症（CDD）相关癫痫中的疗效。
这是一项回顾性观察研究，纳入了 2016 年至 2019 年期间在三家三级癫痫中心接受评估的 CDD 诊断患者。分析了人口统计学、电临床和遗传学特征，以及抗癫痫药物（ASM）治疗及其结果，特别关注 SCBs。
纳入了三家三级癫痫中心的 21 名患者，其中 19 名（90.5%）患有癫痫；所有患者均存在 CDKL5 的致病性突变。6 名患者（31.6%）被归类为 SCB 反应者（减少超过 50%），其中 4 名患者目前无癫痫发作（无癫痫发作的平均时间为 8 年）。最常使用的 SCB 药物为奥卡西平（OXC）、卡马西平（CBZ）和拉科酰胺（LCM）。他们均未出现相关不良反应。相比之下，非反应组的 3 名患者癫痫发作加重。在比较两组时，反应者在开始 SCB 治疗和癫痫发作时的年龄更小，局灶性癫痫样活动的比例更高，West 综合征的病史更少见。
本研究结果表明，SCBs 治疗可能对 CDD 相关癫痫的一部分患者有效且安全。
