TY  - JOUR
AU  - Fernández-Marmiesse, Ana
AU  - Roca, Iria
AU  - Díaz-Flores, Felícitas
AU  - Cantarín, Verónica
AU  - Pérez-Poyato, Mª Socorro
AU  - Fontalba, Ana
AU  - Laranjeira, Francisco
AU  - Quintans, Sofia
AU  - Moldovan, Oana
AU  - Felgueroso, Blanca
AU  - Rodríguez-Pedreira, Montserrat
AU  - Simón, Rogelio
AU  - Camacho, Ana
AU  - Quijada, Pilar
AU  - Ibanez-Mico, Salvador
AU  - Domingno, Mª Rosario
AU  - Benito, Carmen
AU  - Calvo, Rocío
AU  - Pérez-Cejas, Antonia
AU  - Carrasco, Mª Llanos
AU  - Ramos, Feliciano
AU  - Couce, Mª Luz
AU  - Ruiz-Falcó, Mª Luz
AU  - Gutierrez-Solana, Luis
AU  - Martínez-Atienza, Margarita
PY  - 2019
DO  - 10.3389/fnins.2019.01135
SN  - 1662-4548
UR  - http://hdl.handle.net/10668/14765
T2  - Frontiers in neuroscience
AB  - 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...
LA  - en
KW  - de novo mutations
KW  - epilepsy
KW  - genetic diagnosis
KW  - incomplete penetrance
KW  - modifier genes
KW  - neurodevelopmental disorders
TI  - Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
TY  - research article
VL  - 13
ER  -