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Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome.
Ortega-Moreno L, Giráldez BG, Verdú A, García-Campos O, Sánchez-Martín G, Serratosa JM, Guerrero-López R. Ortega-Moreno L, et al. Among authors: sanchez martin g. Neurologia. 2016 Oct;31(8):523-7. doi: 10.1016/j.nrl.2014.10.017. Epub 2015 Jan 24. Neurologia. 2016. PMID: 25631041 Free article. English, Spanish.
Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene.
Guerrero-López R, Ortega-Moreno L, Giráldez BG, Alarcón-Morcillo C, Sánchez-Martín G, Nieto-Barrera M, Gutiérrez-Delicado E, Gómez-Garre P, Martínez-Bermejo A, García-Peñas JJ, Serratosa JM. Guerrero-López R, et al. Among authors: sanchez martin g. Epilepsy Res. 2014 Oct;108(8):1274-8. doi: 10.1016/j.eplepsyres.2014.06.011. Epub 2014 Jul 7. Epilepsy Res. 2014. PMID: 25060993
Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.
Ortega-Moreno L, Giráldez BG, Soto-Insuga V, Losada-Del Pozo R, Rodrigo-Moreno M, Alarcón-Morcillo C, Sánchez-Martín G, Díaz-Gómez E, Guerrero-López R, Serratosa JM; Grupo Español de Genética de las Epilepsias de la Infancia (GEGEI). Ortega-Moreno L, et al. Among authors: sanchez martin g. PLoS One. 2017 Nov 30;12(11):e0188978. doi: 10.1371/journal.pone.0188978. eCollection 2017. PLoS One. 2017. PMID: 29190809 Free PMC article.
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. Among authors: sanchez martin g. Epilepsy Res. 2019 Aug;154:39-41. doi: 10.1016/j.eplepsyres.2019.04.003. Epub 2019 Apr 21. Epilepsy Res. 2019. PMID: 31035243
Early Treatment with Metformin Improves Neurological Outcomes in Lafora Disease.
Burgos DF, Machío-Castello M, Iglesias-Cabeza N, Giráldez BG, González-Fernández J, Sánchez-Martín G, Sánchez MP, Serratosa JM. Burgos DF, et al. Among authors: sanchez martin g. Neurotherapeutics. 2023 Jan;20(1):230-244. doi: 10.1007/s13311-022-01304-w. Epub 2022 Oct 27. Neurotherapeutics. 2023. PMID: 36303102 Free PMC article.
Gene therapy for Lafora disease in the Epm2a-/- mouse model.
Zafra-Puerta L, Iglesias-Cabeza N, Burgos DF, Sciaccaluga M, González-Fernández J, Bellingacci L, Canonichesi J, Sánchez-Martín G, Costa C, Sánchez MP, Serratosa JM. Zafra-Puerta L, et al. Among authors: sanchez martin g. Mol Ther. 2024 May 24:S1525-0016(24)00334-4. doi: 10.1016/j.ymthe.2024.05.032. Online ahead of print. Mol Ther. 2024. PMID: 38796707
Gene replacement therapy for Lafora disease in the Epm2a -/- mouse model.
Zafra-Puerta L, Burgos DF, Iglesias-Cabeza N, González-Fernández J, Sánchez-Martín G, Sánchez MP, Serratosa JM. Zafra-Puerta L, et al. Among authors: sanchez martin g. bioRxiv [Preprint]. 2023 Dec 14:2023.12.14.571636. doi: 10.1101/2023.12.14.571636. bioRxiv. 2023. PMID: 38168354 Free PMC article. Preprint.