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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S, Hedrich UBS, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES consortium; Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR. Syrbe S, et al. Among authors: serratosa jm. Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9. Nat Genet. 2015. PMID: 25751627 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: serratosa jm. Mol Ther. 2024 Jul 3;32(7):2130-2149. doi: 10.1016/j.ymthe.2024.05.032. Epub 2024 May 24. Mol Ther. 2024. PMID: 38796707
BRIVA-ONE study: 12-month outcomes of brivaracetam monotherapy in clinical practice.
Villanueva V, Villar EG, Fernandez-Cabrera A, Zurita J, Lopez-Gonzalez FJ, Rodríguez-Osorio X, Parejo-Carbonell B, Estevez JC, Mercedes-Alvarez B, Ojeda J, Rubio-Roy M, Garcia-Escrivá A, Gómez-Ibáñez A, Martinez-Poles J, Martinez-Agredano P, Calle R, Sierra-Marcos A, Gonzalez AM, Herrera JD, Rodriguez-Uranga J, Cabezas B, Martinez E, Renau J, de Toledo M, Hampel KG, Alarcón C, Barceló MI, Monterde A, Lara LB, Sansa G, Serratosa JM. Villanueva V, et al. Among authors: serratosa jm. Epilepsia Open. 2024 Oct 29. doi: 10.1002/epi4.13078. Online ahead of print. Epilepsia Open. 2024. PMID: 39470722 Free article.
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: serratosa jm. bioRxiv [Preprint]. 2023 Dec 14:2023.12.14.571636. doi: 10.1101/2023.12.14.571636. bioRxiv. 2023. Update in: Mol Ther. 2024 Jul 3;32(7):2130-2149. doi: 10.1016/j.ymthe.2024.05.032. PMID: 38168354 Free PMC article. Updated. Preprint.
Antiepileptogenesis after stroke-trials and tribulations: Methodological challenges and recruitment results of a Phase II study with eslicarbazepine acetate.
Koepp MJ, Trinka E, Mah YH, Bentes C, Knake S, Gigli GL, Serratosa JM, Zelano J, Magalhães LM, Pereira A, Moreira J, Soares-da-Silva P. Koepp MJ, et al. Among authors: serratosa jm. Epilepsia Open. 2023 Sep;8(3):1190-1201. doi: 10.1002/epi4.12735. Epub 2023 Jun 12. Epilepsia Open. 2023. PMID: 36944588 Free PMC article. Clinical Trial.
Number needed to treat and associated cost analysis of cenobamate versus third-generation anti-seizure medications for the treatment of focal-onset seizures in patients with drug-resistant epilepsy in Spain.
Villanueva V, Serratosa JM, Toledo M, Ángel Calleja M, Navarro A, Sabaniego J, Pérez-Domper P, Álvarez-Barón E, Subías S, Gil A. Villanueva V, et al. Among authors: serratosa jm. Epilepsy Behav. 2023 Feb;139:109054. doi: 10.1016/j.yebeh.2022.109054. Epub 2023 Jan 3. Epilepsy Behav. 2023. PMID: 36603345 Free article.
136 results