Search publications

Publications

  • Irelli, EC, Mazzeo, A, Caraballo, RH, Perulli, M, Moloney, PB, Peña-Ceballos, J, Simeone, N, Mieszczanek, TS, Marini, L, Licchetta, L, De Giorgis, V, Valenzuel, GR, Casellato, S, Cesaroni, E, Operto, FF, Domínguez-Carral J, Camacho-Saez AM, Ferretti, A, Santangelo, G, Aledo-Serrano, A, Rüegger, A, Mancardi, MM, Prato, G, Riva, A, Bergonzini, L, Cordelli, DM, Bonanni, P, Bisulli, F, Di Gennaro, G, Matricardi, S, Striano, P, Delantye, N, Marini, C, Battaglia, DI, Di Bonaventura, C, Ramantani, G and Gardella, E.

    Real-world effectiveness and tolerability of highly purified cannabidiol in patients with monogenic developmental and epileptic encephalopathies with highly active epilepsy

    EPILEPSY & BEHAVIOR . 180: .

    [doi:10.1016/j.yebeh.2026.111036]

  • Domínguez-Carral J, Domínguez Cobo AM, Balsells S, Aguilar A, Chang CT, Ludlam WG, Yang K, Bernardi K, Chinigioli M, Salazar-Villacorta A, Di Pisa V, Lamagrande-Casanova N, González-Alguacil E, De la Casa-Fages B, Okumura A, Rodríguez J, Agarwal A, Muñoz-Chesta D, Reynoso-Osnayo C, Lin A, Tabarki B, Parvin J, Gallo AA, Forno A, Maass F, Montiel Blanco J, Nasif S, Jennions E, Ramón-Gómez JL, Verhelst H, Nieto Barceló JJ, Cokolic Petrovic D, García Ruiz LV, van Riesen C, Rego Sousa P, Massaro Sanchez MDP, Khan HA, Hakami W, Friedman J, Espinoza-Quinteros I, Troncoso M, Garg D, Pauni M, Kurahashi H, Miranda-Herrero MC, Duat-Rodriguez A, Soliani L, Kurian MA, Schteinschnaider A, Srivastava S, Ebrahimi-Fakhari D, Martemyanov KA and Ortigoza-Escobar JD.

    Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles

    ANNALS OF NEUROLOGY . : .

    [doi:10.1002/ana.78213]

  • 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: 12

    [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: 18

    [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]