Investigación

Epilepsia y trastornos del movimiento en Pediatría

Buscador de publicaciones

Publicaciones

  • 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]

  • 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]

  • 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]

  • Julià-Palacios NA, Muñoz-Pujol, G, Maroofian, R, Bertoli-Avella, AM, Gómez-Chiari M, Muchart-Lopez J, Paredes-Fuentes, AJ, O'Callaghan-Gordo M, Machado-Casas, IS, Cristian, I, Morrison, J, Garcia-Cazorla A, Codina-Bergadà A, Miryounesi, M, Zonic, E, Bauer, P, Cheema, H, Anjum, MN, Al-Sannaa, N, Abd Elmaksoud, M, Ababneh, F, Alijanpour, S, Tonekaboni, SH, Fayazi, A, Urbaniak, M, Barba, U, Hoenicka J, Palau F, Houlden, H, Ortigoza-Escobar JD, Ribes, A, Santos-Ocaña, C, Tyler, M, Gaffney, P, Carroll, CJ, Tort, F, Wierenga, KJ, Webb, BD, Artuch-Iriberri R, Baide HS and Urreizti R.

    Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases

    brain communications . 7(5): .

    [doi:10.1093/braincomms/fcaf348]

  • 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): . Nº de citas: 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 citas: 6

    [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 citas: 1

    [doi:10.1002/ana.27063]