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Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features.
Soto-Insuga V, López RG, Losada-Del Pozo R, Rodrigo-Moreno M, Cayuelas EM, Giráldez BG, Díaz-Gómez E, Sánchez-Martín G, García LO, Serratosa JM; Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI). Soto-Insuga V, et al. Epilepsy Res. 2019 Aug;154:39-41. doi: 10.1016/j.eplepsyres.2019.04.003. Epub 2019 Apr 21. Epilepsy Res. 2019. PMID: 31035243
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.
Sleep disorders in children with epilepsy.
Furones García M, García Peñas JJ, González Alguacil E, Moreno Cantero T, Ruiz Falcó ML, Cantarín Extremera V, Soto Insuga V. Furones García M, et al. Neurologia (Engl Ed). 2021 Sep 10:S0213-4853(21)00114-6. doi: 10.1016/j.nrl.2021.05.014. Online ahead of print. Neurologia (Engl Ed). 2021. PMID: 34518025 Free article. English, Spanish.
Efficacy of Brivaracetam in children with epilepsy.
Ferragut Ferretjans F, Soto Insuga V, Bernardino Cuesta B, Cantarín Extremera V, Duat Rodriguez A, Legido MJ, González Alguacil E, Furones García M, Gutiérrez Solana L, Moreno Cantero T, Ruiz Falcó ML, García Peñas JJ. Ferragut Ferretjans F, et al. Epilepsy Res. 2021 Nov;177:106757. doi: 10.1016/j.eplepsyres.2021.106757. Epub 2021 Sep 10. Epilepsy Res. 2021. PMID: 34530305
[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.
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.
[Paediatric status epilepticus].
Soto-Insuga V, González-Alguacil E, García-Peñas JJ. Soto-Insuga V, et al. Rev Neurol. 2022 Oct 16;75(8):225-238. doi: 10.33588/rn.7508.2022196. Rev Neurol. 2022. PMID: 36218253 Free PMC article. Review. Spanish.
47 results