Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort

[Objective] This study was aimed to analyze the effectiveness of sodium channel blockers (SCBs) in CDKL5 deficiency disorder (CDD)-related epilepsy.

Detalles Bibliográficos
Autores: Aledo-Serrano, Ángel, Gómez-Iglesias, Patricia, Toledano, Rafael, García-Peñas, Juan José, García-Morales, Irene, Anciones, Carla, Soto-Insuga, Victor, Benke, Timothy A., Pino, Isabel del, Gil-Nagel, Antonio
Tipo de recurso: artículo
Estado:Versión enviada para evaluación y publicación
Fecha de publicación:2021
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/415185
Acceso en línea:http://hdl.handle.net/10261/415185
https://api.elsevier.com/content/abstract/scopus_id/85103985280
Access Level:acceso abierto
Palabra clave:Antiseizure medication
CDD
Carbamazepine
Developmental and epileptic encephalopathies
Genetic epilepsy
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spelling Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohortAledo-Serrano, ÁngelGómez-Iglesias, PatriciaToledano, RafaelGarcía-Peñas, Juan JoséGarcía-Morales, IreneAnciones, CarlaSoto-Insuga, VictorBenke, Timothy A.Pino, Isabel delGil-Nagel, AntonioAntiseizure medicationCDDCarbamazepineDevelopmental and epileptic encephalopathiesGenetic 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.This research did not receive any funding. We are grateful to all participant families and the CDKL5 Spanish Association, as well as to Ana Mingorance PhD from Loulou Foundation and Isabel delPino PhD for their ongoing support.NoElsevierBenke, Timothy A. [0000-0002-6969-5061]202620262021info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Preprintinfo:eu-repo/semantics/submittedVersionapplication/pdfhttp://hdl.handle.net/10261/415185https://api.elsevier.com/content/abstract/scopus_id/85103985280reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Ingléshttps://doi.org/10.1016/j.yebeh.2021.107946Noinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/4151852026-05-22T06:33:51Z
dc.title.none.fl_str_mv Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort
title Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort
spellingShingle Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort
Aledo-Serrano, Ángel
Antiseizure medication
CDD
Carbamazepine
Developmental and epileptic encephalopathies
Genetic epilepsy
title_short Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort
title_full Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort
title_fullStr Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort
title_full_unstemmed Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort
title_sort Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort
dc.creator.none.fl_str_mv Aledo-Serrano, Ángel
Gómez-Iglesias, Patricia
Toledano, Rafael
García-Peñas, Juan José
García-Morales, Irene
Anciones, Carla
Soto-Insuga, Victor
Benke, Timothy A.
Pino, Isabel del
Gil-Nagel, Antonio
author Aledo-Serrano, Ángel
author_facet Aledo-Serrano, Ángel
Gómez-Iglesias, Patricia
Toledano, Rafael
García-Peñas, Juan José
García-Morales, Irene
Anciones, Carla
Soto-Insuga, Victor
Benke, Timothy A.
Pino, Isabel del
Gil-Nagel, Antonio
author_role author
author2 Gómez-Iglesias, Patricia
Toledano, Rafael
García-Peñas, Juan José
García-Morales, Irene
Anciones, Carla
Soto-Insuga, Victor
Benke, Timothy A.
Pino, Isabel del
Gil-Nagel, Antonio
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Benke, Timothy A. [0000-0002-6969-5061]
dc.subject.none.fl_str_mv Antiseizure medication
CDD
Carbamazepine
Developmental and epileptic encephalopathies
Genetic epilepsy
topic Antiseizure medication
CDD
Carbamazepine
Developmental and epileptic encephalopathies
Genetic epilepsy
description [Objective] This study was aimed to analyze the effectiveness of sodium channel blockers (SCBs) in CDKL5 deficiency disorder (CDD)-related epilepsy.
publishDate 2021
dc.date.none.fl_str_mv 2021
2026
2026
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
Preprint
info:eu-repo/semantics/submittedVersion
format article
status_str submittedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/415185
https://api.elsevier.com/content/abstract/scopus_id/85103985280
url http://hdl.handle.net/10261/415185
https://api.elsevier.com/content/abstract/scopus_id/85103985280
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv https://doi.org/10.1016/j.yebeh.2021.107946
No
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,812429

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