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Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.
Santos-Gómez A, Miguez-Cabello F, Juliá-Palacios N, García-Navas D, Soto-Insuga V, García-Peñas JJ, Fuentes P, Ibáñez-Micó S, Cuesta L, Cancho R, Andreo-Lillo P, Gutiérrez-Aguilar G, Alonso-Luengo O, Málaga I, Hedrera-Fernández A, García-Cazorla À, Soto D, Olivella M, Altafaj X. Santos-Gómez A, et al. Int J Mol Sci. 2021 Nov 23;22(23):12656. doi: 10.3390/ijms222312656. Int J Mol Sci. 2021. PMID: 34884460 Free PMC article.
[New anti-epileptic drugs in Paediatrics].
Málaga I, Sánchez-Carpintero R, Roldán S, Ramos-Lizana J, García-Peñas JJ. Málaga I, et al. An Pediatr (Engl Ed). 2019 Dec;91(6):415.e1-415.e10. doi: 10.1016/j.anpedi.2019.09.008. Epub 2019 Nov 8. An Pediatr (Engl Ed). 2019. PMID: 31708334 Free article. Spanish.
Utility of the transcranial doppler in the evaluation and follow-up of children with Sturge-Weber Syndrome.
Jiménez-Legido M, Martínez-de-Azagra-Garde A, Bernardino-Cuesta B, Solís-Muñiz I, Soto-Insuga V, Cantarín-Extremera V, García-Salido A, Duat-Rodríguez A, García-Peñas JJ, Ruíz-Falcó-Rojas ML. Jiménez-Legido M, et al. Eur J Paediatr Neurol. 2020 Jul;27:60-66. doi: 10.1016/j.ejpn.2020.04.006. Epub 2020 Apr 19. Eur J Paediatr Neurol. 2020. PMID: 32376082
Characteristics of epilepsy secondary to mutations of PNKP gene.
Furones García M, Ortiz Cabrera NV, Soto Insuga V, García Peñas JJ. Furones García M, et al. Neurologia (Engl Ed). 2021 Feb 4:S0213-4853(20)30440-0. doi: 10.1016/j.nrl.2020.11.012. Online ahead of print. Neurologia (Engl Ed). 2021. PMID: 33549370 Free article. English, Spanish. No abstract available.
Characteristics of epilepsy secondary to mutations in the PNKP gene.
Furones García M, Ortiz Cabrera NV, Soto Insuga V, García Peñas JJ. Furones García M, et al. Neurologia (Engl Ed). 2021 Nov-Dec;36(9):713-716. doi: 10.1016/j.nrleng.2020.11.013. Epub 2021 Jul 9. Neurologia (Engl Ed). 2021. PMID: 34247972 Free article. No abstract available.
[Variability of the clinical expression of KCNB1 encephalopathy].
Púa-Torrejón RC, González-Alguacil E, Soto-Insuga V, Moreno-Cantero T, Ortiz-Cabrera NV, Pérez-Poyato MS, Ruiz Falcó-Rojas ML, García-Peñas JJ. Púa-Torrejón RC, et al. Rev Neurol. 2021 Nov 16;73(12):403-408. doi: 10.33588/rn.7312.2021267. Rev Neurol. 2021. PMID: 34877642 Free article. Spanish.
116 results