Ángel Aledo-Serrano1, Patricia Gómez-Iglesias2, Rafael Toledano3, Juan Jose Garcia-Peñas4, Irene Garcia-Morales5, Carla Anciones6, Victor Soto-Insuga4, Timothy A Benke7, Isabel Del Pino8, Antonio Gil-Nagel6. 1. Epilepsy Program. Neurology Department, Ruber Internacional Hospital, Madrid, Spain; Epilepsy Unit. Neuroscience Department, Corachan Clinic, Barcelona, Spain. Electronic address: aaledo@neurologiaclinica.es. 2. Epilepsy Unit. Neurology Department, Clínico San Carlos University Hospital, Madrid, Spain. 3. Epilepsy Program. Neurology Department, Ruber Internacional Hospital, Madrid, Spain; Epilepsy Unit, Neurology Department, Ramon y Cajal University Hospital, Madrid, Spain. 4. Department of Pediatric Neurology, Niño Jesus University Children's Hospital, Madrid, Spain. 5. Epilepsy Program. Neurology Department, Ruber Internacional Hospital, Madrid, Spain; Epilepsy Unit. Neurology Department, Clínico San Carlos University Hospital, Madrid, Spain. 6. Epilepsy Program. Neurology Department, Ruber Internacional Hospital, Madrid, Spain. 7. Departments of Pediatrics, Neurology, and Pharmacology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, United States. 8. Principe Felipe Research Center (Centro de Investigación Principe Felipe, CIPF), Valencia, Spain.
Abstract
OBJECTIVE: This study was aimed to analyze the effectiveness of sodium channel blockers (SCBs) in CDKL5 deficiency disorder (CDD)-related epilepsy. METHODS: 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. RESULTS: 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. CONCLUSIONS: The results of this study indicate that treatment with SCBs might be effective and safe in a subset of patients with CDD-related epilepsy.
OBJECTIVE: This study was aimed to analyze the effectiveness of sodium channel blockers (SCBs) in CDKL5 deficiency disorder (CDD)-related epilepsy. METHODS: 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. RESULTS: 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. CONCLUSIONS: The results of this study indicate that treatment with SCBs might be effective and safe in a subset of patients with CDD-related epilepsy.
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