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Epilèpsia i trastorns del moviment en Pediatria

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Publicacions

  • Julià-Palacios NA, Olivella M, Sigatullina M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, SERGIO AGUILERA ALBESA, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera IF, Pérez M, Colomé-Roura R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal-Herrero A, Alonso-Colmenero I, Illescas KS, Balsells S, Marí-Vico R, Maria Duffo Viñas, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, L Muro V, Karall D, Zeiner F, Masnada S, Peterlongo I, De Oyarzabal-Sanz AL, Santos-Gómez A, Altafaj X and Garcia-Cazorla A.

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

    BRAIN . : 1653-1666. Nº de cites: 3

    [doi:10.1093/brain/awae041]

  • Bellido-Castillo E, López-Sala A, Aparicio J, Cuadras-Palleja D and Palacio-Navarro A.

    Memoria episódica verbal en pacientes pediátricos intervenidos de cirugía de la epilepsia del lóbulo temporal: un estudio de seguimiento al año.

    REVISTA DE NEUROLOGIA . 78(3): 61-71.

    [doi:10.33588/rn.7803.2022308]

  • Schijns OEMG, Delev D, von Lehe M, van Roost D, Rössler K, Theys T, Auer C, Blauwblomme T, Budke M, Campos AR, Candela-Cantó SA, Clusmann H, Dorfer C, Dorfmüller G, Egge A, Eröss L, Ferrand-Sorbets S, Giordano F, Honegger J, Isler C, Ivanovic J, Kalbhenn T, Karppinen A, Krayenbühl N, van Lanen RHGJ, Marras CE, Mavridis I, Nilsson D, Onken J, Raftopoulos C, Roth J, Rumia J, Sauvigny T, Scavarda D, Schaller K, Scheiwe C, Schuind S, Seromenho-Santos A and Fountas K.

    Functional hemispheric disconnection procedures for chronic epilepsy: history, indications, techniques, complications and current practice in Europe. A consensus statement on behalf of the EANS functional neurosurgery section.

    Brain and Spine . 4: 102754-102754.

    [doi:10.1016/j.bas.2024.102754]

  • Hinojosa J, Candela-Cantó SA, Becerra V, Muchart-Lopez J, Gómez-Chiari M, Rumia J and Aparicio J.

    Multimodal Approach for the Treatment of Complex Hypothalamic Hamartomas.

    Advances and technical standards in neurosurgery . 50: 119-145.

    [doi:10.1007/978-3-031-53578-9_4]

  • Panagiotakaki, Eleni, Tiziano, Francesco D., Mikati, Mohamad A., Vijfhuizen, Lisanne S., Nicole, Sophie, Lesca, Gaetan, Abiusi, Emanuela, Novelli, Agnese, Di Pietro, Lorena, Harder, Aster V. E., Walley, Nicole M., De Grandis, Elisa, Poulat, Anne-Lise, Portes, Vincent Des, Lepine, Anne, Nassogne, Marie-Cecile, Arzimanoglou A, Vavassori, Rosaria, Koenderink, Jan, Thompson, Christopher H., George, Alfred L., Gurrieri, Fiorella, van den Maagdenberg, Arn M. J. M. and Heinzen, Erin L..

    Exome sequencing of ATP1A3 negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene

    EUROPEAN JOURNAL OF HUMAN GENETICS . : . Nº de cites: 2

    [doi:10.1038/s41431-023-01489-4]

  • Lyu, Hang, Bosselmann, Christian M., Johannesen, Katrine M., Koko, Mahmoud, Ortigoza-Escobar JD, Aguilera-Albesa, Sergio, Nunez, Deyanira Garcia -Navas, Linnankivi, Tarja, Gaily, Eija, Ruiten, Henriette J. A. van, Richardson, Ruth, Betzler, Cornelia, Horvath, Gabriella, Brilstra, Eva, Geerdink, Niels, Orsucci, Daniele, Tessa, Alessandra, Gardella, Elena, Fleszar, Zofia, Schoels, Ludger, Lerche, Holger, Moller, Rikke S. and Liu, Yuanyuan.

    Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

    EBioMedicine . 98: . Nº de cites: 3

    [doi:10.1016/j.ebiom.2023.104855]

  • Nou-Fontanet L, Martín-Gómez C, Isabel-Gómez R, Bachoud-Lévi AC, Zorzi G, Capuano A, Blasco-Amaro JA and Ortigoza-Escobar JD.

    Systematic review of drug therapy for chorea in NXK2-1-related disorders: Efficacy and safety evidence from case studies and series.

    EUROPEAN JOURNAL OF NEUROLOGY . 30(12): 3928-3948. Nº de cites: 3

    [doi:10.1111/ene.16038]

  • Auvin, Stephane, Arzimanoglou A, Beller, Cynthia, Floricel, Florin, Daniels, Tony and Bozorg, Ali.

    Safety, tolerability, and efficacy of adjunctive lacosamide in pediatric patients with epilepsy syndromes associated with generalized seizures: Phase 2, open-label exploratory trial

    Epilepsia . 64(11): 2947-2957.

    [doi:10.1111/epi.17741]

  • Limpo, Hiria, Candela-Cantó SA, Asensio, Silvia, Palacio-Navarro, Andrea, Aparicio J, Perin, Alejandra Climent, Hinojosa, Jose and Rumia, Jordi.

    A multidisciplinary approach to posterior quadrant disconnective epilepsy surgery in pediatric patients

    Neurochirurgie . 69(6): . Nº de cites: 1

    [doi:10.1016/j.neuchi.2023.101489]

  • Muñoz-Pujol G, Ugarteburu O, Segur-Bailach E, Moliner S, Jurado S, Garrabou G, Guitart-Mampel M, García-Villoria J, Artuch-Iriberri R, Fons-Estupina C, Ribes A and Tort F.

    CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders

    JOURNAL OF INHERITED METABOLIC DISEASE . 46(6): 1029-1042.

    [doi:10.1002/jimd.12681]