Investigación

Epilepsia y trastornos del movimiento en Pediatría

Buscador de publicaciones

Publicaciones

  • Panagiotakaki, Eleni, Tiziano, Francesco D., Mikati, Mohamad A., Vijfhuizen, Lisanne S., Nicole, Sophie, Lesca, Gaetan, Abiusi, Emanuela, Novelli, Agnese, Di Pietro, Lorena, Harder, Aster V. E., Walley, Nicole M., De Grandis, Elisa, Poulat, Anne-Lise, Portes, Vincent Des, Lepine, Anne, Nassogne, Marie-Cecile, Arzimanoglou A, Vavassori, Rosaria, Koenderink, Jan, Thompson, Christopher H., George, Alfred L., Gurrieri, Fiorella, van den Maagdenberg, Arn M. J. M. and Heinzen, Erin L..

    Exome sequencing of ATP1A3 negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene

    EUROPEAN JOURNAL OF HUMAN GENETICS . 32(2): 224-231. Nº de citas: 2

    [doi:10.1038/s41431-023-01489-4]

  • Lyu, Hang, Bosselmann, Christian M., Johannesen, Katrine M., Koko, Mahmoud, Ortigoza-Escobar JD, Aguilera-Albesa, Sergio, Nunez, Deyanira Garcia -Navas, Linnankivi, Tarja, Gaily, Eija, Ruiten, Henriette J. A. van, Richardson, Ruth, Betzler, Cornelia, Horvath, Gabriella, Brilstra, Eva, Geerdink, Niels, Orsucci, Daniele, Tessa, Alessandra, Gardella, Elena, Fleszar, Zofia, Schoels, Ludger, Lerche, Holger, Moller, Rikke S. and Liu, Yuanyuan.

    Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

    EBioMedicine . 98: . Nº de citas: 6

    [doi:10.1016/j.ebiom.2023.104855]

  • Nou-Fontanet L, Martín-Gómez C, Isabel-Gómez R, Bachoud-Lévi AC, Zorzi G, Capuano A, Blasco-Amaro JA and Ortigoza-Escobar JD.

    Systematic review of drug therapy for chorea in NXK2-1-related disorders: Efficacy and safety evidence from case studies and series.

    EUROPEAN JOURNAL OF NEUROLOGY . 30(12): 3928-3948. Nº de citas: 3

    [doi:10.1111/ene.16038]

  • Auvin, Stephane, Arzimanoglou A, Beller, Cynthia, Floricel, Florin, Daniels, Tony and Bozorg, Ali.

    Safety, tolerability, and efficacy of adjunctive lacosamide in pediatric patients with epilepsy syndromes associated with generalized seizures: Phase 2, open-label exploratory trial

    Epilepsia . 64(11): 2947-2957. Nº de citas: 3

    [doi:10.1111/epi.17741]

  • Limpo, H, Candela-Cantó SA, Asensio, S, Palacio-Navarro, A, Aparicio J, Perin, AC, Hinojosa, J and Rumià, J.

    A multidisciplinary approach to posterior quadrant disconnective epilepsy surgery in pediatric patients

    Neurochirurgie . 69(6): . Nº de citas: 2

    [doi:10.1016/j.neuchi.2023.101489]

  • de Pedro Baena S, Sariego Jamardo A, Castro P, López González FJ, Sánchez Carpintero R, Cerisola A, Troncoso M, Witting S, Barrios A, Fons-Estupina C, López Pisón J and Ortigoza-Escobar JD.

    Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review

    Movement Disorders Clinical Practice . 10(11): 1671-1679. Nº de citas: 3

    [doi:10.1002/mdc3.13880]

  • Muñoz-Pujol G, Ugarteburu O, Segur-Bailach E, Moliner S, Jurado S, Garrabou G, Guitart-Mampel M, García-Villoria J, Artuch-Iriberri R, Fons-Estupina C, Ribes A and Tort F.

    CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders

    JOURNAL OF INHERITED METABOLIC DISEASE . 46(6): 1029-1042.

    [doi:10.1002/jimd.12681]

  • 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. Nº de citas: 13

    [doi:10.1002/ana.26758]

  • Patel SH, Panagiotakaki E, Papadopoulou MT, Fons-Estupina C, De Grandis E, Vezyroglou A, Balestrini S, Hong H, Liu B, Prange L, Arzimanoglou A, Vavassori R and Mikati MA.

    Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease

    JOURNAL OF CHILD NEUROLOGY . 38(10-12): 597-610. Nº de citas: 2

    [doi:10.1177/08830738231197861]

  • Schluter, Agatha, Velez-Santamaria, Valentina, Verdura, Edgard, Rodriguez-Palmero, Agusti, Ruiz, Montserrat, Fourcade, Stephane, Planas-Serra, Laura, Launay, Nathalie, Guilera, Cristina, Martinez, Juan Jose, Homedes-Pedret, Christian, Alberti-Aguilo, M. Antonia, Zulaika, Miren, Marti, Itxaso, Troncoso, Monica, Tomas-Vila, Miguel, Bullich, Gemma, Garcia-Perez, M. Asuncion, Sobrido-Gomez, Maria-Jesus, Lopez-Laso, Eduardo, Fons-Estupina C, Del Toro, Mireia, Macaya, Alfons, Beltran, Sergi, Gutierrez-Solana, Luis G., Perez-Jurado, Luis A., Aguilera-Albesa, Sergio, de Munain, Adolfo Lopez, Casasnovas, Carlos, Pujol, Aurora and HSP Ataxia Workgrp.

    ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    GENOME MEDICINE . 15(1): . Nº de citas: 2

    [doi:10.1186/s13073-023-01214-2]