Academic Journal
Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy
| Title: | Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy |
|---|---|
| Authors: | Dídac Casas-Alba, Anna Aguilar, Itziar Alonso, María Teresa García, Maria Roberta Cilio, Carmen Fons, Javier López-Pisón, Luis Gutiérrez-Solana, Fernando Ferragut, María Luz Ruiz-Falcó, Víctor Soto-Insuga, Elena González, Tamara Pablos, María José Mas, Sara Hernández, María Vázquez-López, Patricia Fuentes-Pita, Sergio Aguilera-Albesa, Rocío Sánchez-Carpintero, Montserrat Garcia-Puig, Deyanira García-Navas, Helena Alarcón-Martínez, Candelaria González, Rocío Calvo, Ana Extraviz, Jordi Muchart, Francesc Palau, Judith Armstrong, Dèlia Yubero, Carlos Eduardo Valera, Verónica González, Mar O'’Callaghan, Ariadna Borràs, Àngels García-Cazorla, Óscar Casis, Amaia Alquiza, Ainhoa Rodríguez de Yurre, Álvaro Villarroel |
| Contributors: | Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72] |
| Source: | PEDIATRIC NEUROLOGY r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu Fundació Sant Joan de Déu Digital.CSIC. Repositorio Institucional del CSIC Consejo Superior de Investigaciones Científicas (CSIC) |
| Publisher Information: | Elsevier BV, 2023. |
| Publication Year: | 2023 |
| Subject Terms: | Developmental and epileptic encephalopathy, KCNQ2, Male, Epilepsy, Self-limited (familial) neonatal epilepsy, Infant, Newborn, Gross Motor Function Classification System, encephalopathy, Seizures, Child, Preschool, Mutation, Humans, KCNQ2 Potassium Channel, Female, Vineland Adaptive Behavior Scales, Developmental and epileptic, Child, Retrospective Studies |
| Description: | We aim to describe a cohort of patients with KCNQ2-related epilepsy and evaluate the relationship between epileptic activity and developmental outcome. This topic is relevant for the selection of clinical end points in future clinical trials, since cessation of seizures may or may not be the most important outcome.This retrospective cohort study of children with self-limited (familial) neonatal epilepsy and developmental and epileptic encephalopathy due to pathogenic variants in KCNQ2 was conducted between 2019 and 2021. We collected clinical, therapeutic, and genetic information. Available electroencephalographic recordings were reviewed by a neurophysiologist. Gross motor function was determined using the Gross Motor Function Classification System (GMFCS). The Vineland Adaptive Behavior Composite standard score (ABC SS) was used to measure adaptive functioning.Among 44 children (mean age 8.1 ± 4.0 years, 45.5% were male), 15 of 44 had S(F)NE, and 29 of 44 had DEE. Delayed seizure freedom was more frequent in DEE than in S(F)NE (P = 0.025), but no correlation was observed between age at seizure freedom and developmental outcome in patients with DEE. Multifocal interictal epileptiform abnormalities at epilepsy onset were more frequent in DEE than in S(F)NE (P = 0.014), and were associated with higher GMFCS (P = 0.027) and lower ABC SS (P = 0.048) in patients with DEE. Disorganized background activity at follow-up was more frequent in DEE than in S(F)NE (P = 0.001), and was associated with higher GMFCS levels (P = 0.009) and lower ABC SS (P = 0.005) in patients with DEE.This study shows a partial correlation between epileptic activity and developmental outcome in KCNQ2-related epilepsy. |
| Document Type: | Article |
| Language: | English |
| ISSN: | 0887-8994 |
| DOI: | 10.1016/j.pediatrneurol.2023.03.004 |
| Access URL: | https://pubmed.ncbi.nlm.nih.gov/37099824 https://fsjd.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=23424 http://hdl.handle.net/10261/352646 |
| Rights: | Elsevier TDM |
| Accession Number: | edsair.doi.dedup.....f7ca79fe2fa10418549d7d88e837375d |
| Database: | OpenAIRE |
| ISSN: | 08878994 |
|---|---|
| DOI: | 10.1016/j.pediatrneurol.2023.03.004 |