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Epilèpsia i trastorns del moviment en Pediatria

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Publicacions

  • 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 Ca(2+) influx by ORAI1.

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

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

  • 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.

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

  • 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 . : .

    [doi:10.1002/ajmg.a.63963]

  • Amato ME, Balsells S, Martorell-Sampol L, Alcalá-San Martin A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS and Ortigoza-Escobar JD.

    Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 53: 63-72. Nº de cites: 1

    [doi:10.1016/j.ejpn.2024.10.005]

  • González-Crespo A, Brugada-Bellsolà F, Candela-Cantó SA, Aparicio J, Arboix JR and Hinojosa J.

    Robot-assisted insular stereoelectroencephalography in pediatric drug-resistant epilepsy: accuracy and diagnostic value.

    CHILDS NERVOUS SYSTEM . 40(11): 3729-3744.

    [doi:10.1007/s00381-024-06571-w]

  • Carmona-Hidalgo, B, Herrera-Ramos, E, Rodríguez-López, R, Nou-Fontanet, L, Moreno, JC, Blasco-Amaro, JA, Léger, J and Ortigoza-Escobar JD.

    Systematic review of thyroid function in NKX2-1-related disorders: Treatment and follow-up

    PLoS One . 19(10): .

    [doi:10.1371/journal.pone.0309064]

  • Hinojosa J, Becerra V, Candela-Cantó SA, Alamar AM, Culebras D, Valencia C, Carlos Valera Dávila, Rumiá J, Muchart-Lopez J and Aparicio J.

    Extra-temporal pediatric low-grade gliomas and epilepsy.

    CHILDS NERVOUS SYSTEM . 40(10): 3309-3327.

    [doi:10.1007/s00381-024-06573-8]

  • Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.

    Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication

    CLINICAL CHEMISTRY . 70(12): 1443-1451.

    [doi:10.1093/clinchem/hvae139]

  • Amato ME, Darling A, Stovickova L, Attard S, Eggink H, Engelen M, Freilinger M, Grosso S, Hadzsiev K, Moroni I, Nardocci N, Neubauer D, Nicita F, Pagliano E, Siegert S, Soler D, van de Pol LA, Vasco G, Vidailhet M, Willemsen MA, Zibordi F, Zorzi G, Zumrova A, Reinhard C, Sevin C, Wolf N, Rodriguez-Blazquez C, Sival DA and Ortigoza-Escobar JD.

    Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 52: 10-19. Nº de cites: 2

    [doi:10.1016/j.ejpn.2024.06.011]

  • Serafim AB, Olivé-Cirera G, Ortega-González Á, Kruer MC, Weese-Mayer D, Rand CM, Fons-Estupina C, Fernández-Ramos JA, Clemente M, Simabukuro MM, Embiruçu EK, Ibáñez-Micó S, Dalmau JO, Graus F, Armangue-Salvador T and Sabater L.

    Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome

    NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION . 11(5): . Nº de cites: 3

    [doi:10.1212/NXI.0000000000200276]