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

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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Bibliographic Details
Main Authors: Ana Fernández-Marmiesse, Iria Roca, Felícitas Díaz-Flores, Verónica Cantarín, Mª Socorro Pérez-Poyato, Ana Fontalba, Francisco Laranjeira, Sofia Quintans, Oana Moldovan, Blanca Felgueroso, Montserrat Rodríguez-Pedreira, Rogelio Simón, Ana Camacho, Pilar Quijada, Salvador Ibanez-Mico, Mª Rosario Domingno, Carmen Benito, Rocío Calvo, Antonia Pérez-Cejas, Mª Llanos Carrasco, Feliciano Ramos, Mª Luz Couce, Mª Luz Ruiz-Falcó, Luis Gutierrez-Solana, Margarita Martínez-Atienza
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-11-01
Series:Frontiers in Neuroscience
Subjects:
epilepsy
genetic diagnosis
neurodevelopmental disorders
de novo mutations
incomplete penetrance
modifier genes
Online Access:https://www.frontiersin.org/article/10.3389/fnins.2019.01135/full

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https://www.frontiersin.org/article/10.3389/fnins.2019.01135/full

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