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Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A, Roca I, Díaz-Flores F, Cantarín V, Pérez-Poyato MS, Fontalba A, Laranjeira F, Quintans S, Moldovan O, Felgueroso B, Rodríguez-Pedreira M, Simón R, Camacho A, Quijada P, Ibanez-Mico S, Domingno MR, Benito C, Calvo R, Pérez-Cejas A, Carrasco ML, Ramos F, Couce ML, Ruiz-Falcó ML, Gutierrez-Solana L, Martínez-Atienza M. Fernández-Marmiesse A, et al. Front Neurosci. 2019 Nov 8;13:1135. doi: 10.3389/fnins.2019.01135. eCollection 2019. Front Neurosci. 2019. PMID: 31780880 Free PMC article.
[Cerebral malaria in children].
García-Peñas JJ, Quintero V, Gutiérrez-Solana LG, Ruiz-Falcó ML. García-Peñas JJ, et al. Rev Neurol. 2000 Jan 1-15;30(1):15-20. Rev Neurol. 2000. PMID: 10742990 Spanish.
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.
Hortigüela M, Fernández-Marmiesse A, Cantarín V, Gouveia S, García-Peñas JJ, Fons C, Armstrong J, Barrios D, Díaz-Flores F, Tirado P, Couce ML, Gutiérrez-Solana LG. Hortigüela M, et al. J Hum Genet. 2017 Feb;62(2):185-189. doi: 10.1038/jhg.2016.104. Epub 2016 Aug 18. J Hum Genet. 2017. PMID: 27535030
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