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Publications

  • Soto-Insuga V, Valls Carbó A, Pinzón-Acevedo AG, González-Alguacil E, Peñas JJG, Jamardo AS, Aznar-Laín G, Ibáñez-Micó S, Martínez HA, Buenache R, Rekarte S, Olivera AP, Tuero-Montiel E, Domínguez-Carral J, López M, Ribes AG, González MJM, Arias E, Ron AG, Boronat S, Viñas ET, Casellas D, Navarro V, Conejo D, Miravet E, Román IS, Nagel-Rein AG, Cabeza MM, Smeyers P and Aledo-Serrano Á.

    Real-world use of cenobamate in pediatric focal epilepsies and developmental epileptic encephalopathies: A multicenter retrospective series

    EPILEPSIA . 66(12): 4712-4724. Number of citations: 3

    [doi:10.1111/epi.18586]

  • Bernardi, K, Ortigoza-Escobar JD, Domínguez-Carral J, Espinoza-Quinteros, I, Mendo, LD, Koy, A and Thiel, M.

    Severe upper airway dysfunction in GNAO1-related disorders

    Italian Journal of Pediatrics . 51(1): .

    [doi:10.1186/s13052-025-02150-0]

  • Domínguez-Carral J, Reinhard C, Soliani L, Cif L and Ortigoza-Escobar JD.

    Exploring the Impact of Dyskinetic Crises in GNAO1-Related Disorders: A Survey for Parents and Caregivers

    Movement Disorders Clinical Practice . 12(10): 1615-1621. Number of citations: 2

    [doi:10.1002/mdc3.70102]

  • Wang T, Domínguez-Carral J, Ludlam WG, Segarra MJ, Marti MF, Bruining H, Martemyanov KA, Linkenkaer-Hansen K and Ortigoza-Escobar JD.

    Neuronal oscillatory imbalances in GNAO1-related disorders associated with disease severity

    EPILEPSIA . 66(10): 3992-4005. Number of citations: 2

    [doi:10.1111/epi.18513]

  • Irelli, EC, Mazzeo, A, Caraballo, RH, Perulli, M, Moloney, PB, Pena-Ceballos, J, Rubino, M, Mieszczanek, KM, Santangelo, A, Licchetta, L, De Giorgis, V, Valenzuela, GR, Casellato, S, Cesaroni, E, Operto, FF, Domínguez-Carral J, Ramírez-Camacho A, Ferretti, A, Santangelo, G, Aledo-Serrano, A, Rueegger, A, Mancardi, MM, Prato, G, Riva, A, Bergonzini, L, Cordelli, DM, Bonanni, P, Bisulli, F, Di Gennaro, G, Matricardi, S, Striano, P, Delanty, N, Marini, C, Battaglia, D, Di Bonaventura, C, Ramantani, G, Gardella, E, Orsini, A and Coppola, A.

    Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real-world study

    EPILEPSIA . 66(7): 2253-2267. Number of citations: 11

    [doi:10.1111/epi.18378]

  • Domínguez-Carral J, Reinhard C, Yoo J, Soliani L, Cif L and Ortigoza-Escobar JD.

    Caregivers' Perspectives and Decision-Making on Deep Brain Stimulation in GNAO1-Related Disorders.

    Neuromodulation : journal of the International Neuromodulation Society . : .

    [doi:10.1016/j.neurom.2025.05.005]

  • Domínguez-Carral J, Reinhard C, Ebrahimi-Fakhari D, Dorison N, Galosi S, Garone G, Malenica M, Ravelli C, Serdaroglu E, van de Pol LA, Koy A, Leuzzi V, Roubertie A, Lin JP, Doummar D, Cif L and Ortigoza-Escobar JD.

    Dyskinetic crisis in GNAO1-related disorders: clinical perspectives and management strategies

    Frontiers in Neurology . 15: 1403815-1403815. Number of citations: 17

    [doi:10.3389/fneur.2024.1403815]

  • Armijo JA, Fernandez-Garcia, MA, Camacho, A, Liz, M, Ortez-Gonzalez CI, Lafuente-Hidalgo, M, Laguna, LTBD, Estévez-Arias B, Carrera-García L, Exposito-Escudero JM, Domínguez-Carral J, Nascimento-Osorio A and Natera-de Benito D.

    Epilepsy in Duchenne and Becker muscular dystrophies

    Annals of Clinical and Translational Neurology . 11(6): 1456-1464. Number of citations: 1

    [doi:10.1002/acn3.52058]

  • Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart-Lopez J, Cokolic Petrovic D, Espinoza I, Ortigoza-Escobar JD and Martemyanov KA.

    Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function

    ANNALS OF NEUROLOGY . 94(5): 987-1004. Number of citations: 34

    [doi:10.1002/ana.26758]

  • Justel M, Jou-Munoz C, Sariego-Jamardo A, Julià-Palacios NA, Ortez-Gonzalez CI, Poch ML, Hedrera-Fernandez A, Gomez-Martin H, Codina-Bergadà A, Domínguez-Carral J, Muchart-Lopez J, Hernández-Laín A, Vila-Bedmar S, Zulaica M, Cancho-Candela R, Castro MDC, de la Osa-Langreo A, Peña-Valenceja A, Marcos-Vadillo E, Prieto-Matos P, Pascual-Pascual SI, López de Munain A, Camacho A, Estévez-Arias B, Musokhranova U, Olivella M, De Oyarzabal-Sanz AL, Jimenez-Mallebrera C, Domínguez-González C, Nascimento-Osorio A, Garcia-Cazorla A and Natera-de Benito D.

    Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    JOURNAL OF MEDICAL GENETICS . 60(10): 965-973. Number of citations: 13

    [doi:10.1136/jmg-2022-109132]