Investigación

Epilepsia y trastornos del movimiento en Pediatría

Buscador de publicaciones

Publicaciones

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

    Anterior temporal lobectomy and selective AmygdaloHippocampectomy complications across Europe: review, meta-analysis, and Delphi consensus.

    Brain and Spine . 5: 104304-104304.

    [doi:10.1016/j.bas.2025.104304]

  • 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 . 66(6): 1865-1875.

    [doi:10.1111/epi.18323]

  • 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]

  • Michel K, Ruiz-Ramos, A, Nou-Fontanet, L, Martín-Gomez, C, Hidalgo, BC, Isabel-Gomez, R, Rosario-Lozano, MP, Rodriguez-Lopez, R, Wagner, TOF, Blasco-Amaro, JA, Griese, M and Ortigoza-Escobar JD.

    Respiratory and other organ manifestations in NKX2-1-related disorders: a systematic review

    Frontiers in Medicine . 12: .

    [doi:10.3389/fmed.2025.1507513]

  • Ghasemi, MR, Fateh, ST, Ben-Mahmoud, A, Gupta, V, Stühn, LG, Lesca, G, Chatron, N, Platzer, K, Edery, P, Sadeghi, H, Isidor, B, Cogné, B, Schulz, HL, Krauspe-Stübecke, I, Periyasamy, R, Nampoothiri, S, Mirfakhraie, R, Alijanpour, S, Syrbe, S, Pfeifer, U, Spranger, S, Grundmann-Hauser, K, Haack, TB, Papadopoulou, MT, Gonçalves, TD, Panagiotakaki, E, Arzimanoglou A, Tonekaboni, SH, Rossi, M, Korenke, GC, Lacassie, Y, Jang, MH, Layman, LC, Miryounesi, M and Kim, HG.

    Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG)

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 197(5): .

    [doi:10.1002/ajmg.a.63963]

  • 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 . 179(5): 529-539. Nº de citas: 2

    [doi:10.1001/jamapediatrics.2024.6832]

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

    Harmonization of MRI sequences across ERN EpiCARE centers

    Epilepsia Open . 10(2): 587-592.

    [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]

  • Borrell-Pichot M, Fons-Estupina C, Boronat S and Sierra-Marcos A.

    Successful management of refractory epilepsy in creatine transporter deficiency with cannabidiol and clobazam: A case report

    Epilepsia Open . 10(1): 342-347.

    [doi:10.1002/epi4.13116]

  • 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. Nº de citas: 1

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