Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients

In order to characterize the genetic architecture of epilepsy in a pediatric population from the Iberian Peninsula (including the Canary Islands), we conducted targeted exome sequencing of 246 patients with infantile-onset seizures with or without neurodevelopmental delay. We detected 107 variants i...

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Detalhes bibliográficos
Autor principal: Fernández-Marmiesse, A. (author)
Outros Autores: Roca, I. (author), Díaz-Flores, F. (author), Cantarín, V. (author), Pérez-Poyato, M. (author), Fontalba, A. (author), Laranjeira, Francisco (author), Quintans, S. (author), Moldovan, O. (author), Felgueroso, B. (author), Rodríguez-Pedreira, M. (author), Simón, R. (author), Camacho, A. (author), Quijada, P. (author), Ibanez-Mico, S. (author), Domingno, M. (author), Benito, C. (author), Calvo, R. (author), Pérez-Cejas, A. (author), Carrasco, M. (author), Ramos, F. (author), Couce, M. (author), Ruiz-Falcó, M. (author), Gutierrez-Solana, L. (author), Martínez-Atienza, M. (author)
Formato: article
Idioma:eng
Publicado em: 2020
Assuntos:
de novo mutations
epilepsy
genetic diagnosis
incomplete penetrance
modifier genes
neurodevelopmental disorders
Texto completo:http://hdl.handle.net/10400.16/2382
País:Portugal
Oai:oai:repositorio.chporto.pt:10400.16/2382

Texto Completo

http://hdl.handle.net/10400.16/2382

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