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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. Copyright © 2021 Elsevier Inc. All rights reserved.


Ángel Aledo-Serrano, Patricia Gómez-Iglesias, Rafael Toledano, Juan Jose Garcia-Peñas, Irene Garcia-Morales, Carla Anciones, Victor Soto-Insuga, Timothy A Benke, Isabel Del Pino, Antonio Gil-Nagel. Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort. Epilepsy & behavior : E&B. 2021 May;118:107946

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PMID: 33848848

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