Salvador Ibáñez‐Micó

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

Ana Fernández‐Marmiesse, Iria Roca, Felícitas Díaz-Flores et al. · Frontiers in Neuroscience · 2019 · 65 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Efficacy and Tolerability of Lacosamide in the Concomitant Treatment of 130 Patients Under 16 Years of Age with Refractory Epilepsy

C Casas-Fernández, A Martínez-Bermejo, M Rufo-Campos et al. · Drugs in R&D · 2012 · 53 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +16

L-serine treatment in patients with <i>GRIN</i>-related encephalopathy: a phase 2A, non-randomized study

Natalia Juliá‐Palacios, Mireia Olivella, Mariya Sigatullina Bondarenko et al. · Brain · 2024 · 30 citations

Medicine, Neurology, Pediatrics +15

Availability and use of rapid diagnostic tests for the management of acute childhood infections in Europe: A cross-sectional survey of paediatricians

Juan Emmanuel Dewez, Lucy Pembrey, Ruud Nijman et al. · PLoS ONE · 2022 · 26 citations · Full text

Medicine, Infectious Diseases, Pediatrics +13

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

Nastassja Himmelreich, Mariarita Bertoldi, Majid Alfadhel et al. · Molecular Genetics and Metabolism · 2023 · 20 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17