Investigación

Epilepsia y trastornos del movimiento en Pediatría

Buscador de publicaciones

Publicaciones

  • Granja-Dominguez A, Martin-Gomez C, Ortigoza-Escobar JD, Rodriguez-Lopez R, Gonzalez-Bermudez L, Dantone S, Pavanello S and Blasco-Amaro JA.

    A proposal to involve people living with rare and complex conditions in the development of clinical practice guidelines

    PATIENT EDUCATION AND COUNSELING . 135: 108708-108708.

    [doi:10.1016/j.pec.2025.108708]

  • Moya-Mendez ME, Bidzimou MT, Muralidharan P, Zhang Z, Ezekian JE, Perelli RM, Parker LE, Prange L, Boggs A, Kim JJ, Howard TS, Word TA, Wehrens XHT, Reyes Valenzuela G, Caraballo R, Garone G, Vigevano F, Weckhuysen S, Millevert C, Troncoso M, Matamala M, Balestrini S, Sisodiya SM, Poole J, Zucca C, Panagiotakaki E, Papadopoulou MT, Tchaicha S, Zawadzka M, Mazurkiewicz-Beldzinska M, Fons-Estupina C, Anticona-Huaynate J, De Grandis E, Cordani R, Pisciotta L, Groppa S, Paryjas S, Ragona F, Mangia E, Granata T, Megvinov A, Pavlicek M, Ess K, Simmons CQ, George AL Jr, Vavassori R, Mikati MA and Landstrom AP.

    ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias

    JAMA PEDIATRICS . : .

    [doi:10.1001/jamapediatrics.2024.6832]

  • Lersch, R, Hartlieb, T, Pieper, T, Kudernatsch, M, Hofer, W, Barba, C, Guerrini, R, Giordano, F, Pommella, M, Schubert-Bast, S, Syrbe, S, Rego, R, Pinheiro, J, Feucht, M, Beck, A, Coras, R, Blumcke, I, Alber, M, Tacke, M, Rémi, J, Vollmar, C, Kunz, M, Shetty, J, Mclellan, A, Sokol, D, Kandasamy, J, Klotz, KA, San Antonio-Arce, V, Schulze-Bonhage, A, Pepper, J, Lo, WB, Arzimanoglou A, Francione, S, Braun, CJ and Borggraefe, I.

    Seizure outcomes following epilepsy surgery in pediatric and young adult patients with high-grade brain tumors: Results from a European survey

    Epilepsia . : .

    [doi:10.1111/epi.18323]

  • Cobo-Cobo T, Burgos-Artizzu XP, Ferrero-Martinez SI, Balcells J, Bosch J, Gene-Giralt A, Murillo C, Rueda C, Boada D, Sánchez-Antón MT, Kacerovsky M, Jacobsson B and Palacio-Navarro A.

    External validation of a non-invasive vaginal tool to assess the risk of intra-amniotic inflammation in pregnant women with preterm labor and intact membranes.

    JOURNAL OF PERINATAL MEDICINE . 53(2): 170-178.

    [doi:10.1515/jpm-2024-0178]

  • Adler, S, D'Arco, F, Mankad, K, Kyncl, M, Arzimanoglou A and Marusic, P.

    Harmonization of MRI sequences across ERN EpiCARE centers

    Epilepsia Open . : .

    [doi:10.1002/epi4.13115]

  • Valdiva, DP, Roldán, P, Manfrellotti, R, Gagliano, D, Mosteiro, A, Candela-Cantó SA, Ferrés, A, Gómez, L, Rumià, J, Prats-Galino, A, Villa, B, Di Somma, A and Ensenat, J.

    Transorbital laser surgery for epilepsy: Anatomic-radiological feasibility of transorbital magnetic resonance imaging-guided laser interstitial thermal therapy (MRIgLITT) for amygdalohippocampectomy in refractory epilepsy

    Clinical Neurology and Neurosurgery . 249: .

    [doi:10.1016/j.clineuro.2025.108718]

  • Ousingsawat J, Talbi K, Gómez-Martín H, Koy A, Fernández-Jaén A, Tekgül H, Serdaroglu E, Ortigoza-Escobar JD, Schreiber R and Kunzelmann K.

    Dystonia caused by ANO3 variants is due to attenuated Ca2+ influx by ORAI1

    BMC MEDICINE . 23(1): 12-12.

    [doi:10.1186/s12916-024-03839-5]

  • Neugebauer J, Reinson K, Bellusci M, Park JH, Hikmat O, Bertini E, Schiff M and Rahman S.

    Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): .

    [doi:10.1002/jimd.12805]

  • Olivé-Cirera G, Fonseca E, Chen LW, Fetta A, Martínez-Hernández E, Guasp M, González V, Delgadillo V, Cantarín-Extremera V, Jiménez-Legido M, Monge-Galindo L, Felipe A, Beseler B, Turón-Viñas E, Fernández-Ramos J, Martínez-González MJ, Vázquez-López M, Arrabal Fernandez L, Alvarez-Molinero M, Muñoz-Cabello B, Camacho A, Nuñez-Enamorado N, Spatola M, Sabater L, Blanco Y, Saiz A, Graus F, Dalmau J and Armangue-Salvador T.

    Differential diagnosis and comparison of diagnostic algorithms in children and adolescents with autoimmune encephalitis in Spain: a prospective cohort study and retrospective analysis

    LANCET NEUROLOGY . 24(1): 54-64. Nº de citas: 2

    [doi:10.1016/S1474-4422(24)00443-5]

  • Moya Quiros V, Adham A, Convers P, Lesca G, Mauguiere F, Soulier H, Arzimanoglou A, Bayat A, Braakman H, Camdessanche JP, Casenave P, Chaton L, Chaix Y, Chochoi M, Depienne C, Desportes V, De Ridder J, Dinkelacker V, Gardella E, Kluger GJ, Jung J, Lemesle Martin M, Mancardi MM, Mueller M, Poulat AL, Platzer K, Roubertie A, Stokman MF, Vulto-van Silfhout AT, Wiegand G and Mazzola L.

    Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy

    ANNALS OF NEUROLOGY . 97(1): 34-50.

    [doi:10.1002/ana.27063]