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Publicacions

  • 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.

    [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 cites: 5

    [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. Nº de cites: 1

    [doi:10.1002/ana.27063]

  • Barbera, Anna Revert, Martorell, Loreto, Boix Lluch C, Armstrong-Moron J, Carrera, Laura, Nascimento-Osorio A and Ortigoza-Escobar JD.

    Clinical Response of Levodopa in CTNNB1 -Related Dystonia

    Journal of Pediatric Neurology . 22(06): 466-469.

    [doi:10.1055/s-0044-1787194]

  • Specchio N, Trivisano M, Aronica E, Balestrini S, Arzimanoglou A, Colasante G, Cross JH, Jozwiak S, Wilmshurst JM, Vigevano F, Auvin S, Nabbout R and Curatolo P.

    The expanding field of genetic developmental and epileptic encephalopathies: current understanding and future perspectives

    LANCET CHILD & ADOLESCENT HEALTH . 8(11): 821-834. Nº de cites: 8

    [doi:10.1016/S2352-4642(24)00196-2]

  • 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: 2

    [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]