Search results

  • 2024

    Emergence of lingual dystonia and strabismus in early-onset SCN8A self-limiting familial infantile epilepsy

    Ancora, C., Ortigoza-Escobar, J. D., Valletti, M. A., Furia, F., Nielsen, J. E. K., Møller, R. S. & Gardella, E., Apr 2024, In: Epileptic Disorders. 26, 2, p. 219-224

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  • 2023

    IRF2BPL as a novel causative gene for progressive myoclonus epilepsy

    Gardella, E., Michelucci, R., Christensen, H. M., Fenger, C. D., Reale, C., Riguzzi, P., Pasini, E., Albini-Riccioli, L., Papa, V., Foschini, M. P., Cenacchi, G., Furia, F., Marjanovic, D., Hammer, T. B., Møller, R. S. & Rubboli, G., Aug 2023, In: Epilepsia. 64, 8, p. e170-e176

    Research output: Contribution to journalJournal articleResearchpeer-review

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  • 2022

    Assessing the landscape of STXBP1-related disorders in 534 individuals

    Xian, J., Parthasarathy, S., Ruggiero, S. M., Balagura, G., Fitch, E., Helbig, K., Gan, J., Ganesan, S., Kaufman, M. C., Ellis, C. A., Lewis-Smith, D., Galer, P., Cunningham, K., O'brien, M., Cosico, M., Baker, K., Darling, A., Veiga De Goes, F., El Achkar, C. M., Doering, J. H., & 34 othersFuria, F., Garciá-Cazorla, Á., Gardella, E., Geertjens, L., Klein, C., Kolesnik-Taylor, A., Lammertse, H., Lee, J., Mackie, A., Misra-Isrie, M., Olson, H., Sexton, E., Sheidley, B., Smith, L., Sotero, L., Stamberger, H., Syrbe, S., Thalwitzer, K. M., Van Berkel, A., Van Haelst, M., Yuskaitis, C., Weckhuysen, S., Prosser, B., Son Rigby, C., Demarest, S., Pierce, S., Zhang, Y., Møller, R. S., Bruining, H., Poduri, A., Zara, F., Verhage, M., Striano, P. & Helbig, I., May 2022, In: Brain. 145, 5, p. 1668-1683

    Research output: Contribution to journalJournal articleResearchpeer-review

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  • Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy into Adulthood

    Stamberger, H., Crosiers, D., Balagura, G., Bonardi, C. M., Basu, A., Cantalupo, G., Chiesa, V., Christensen, J., Dalla Bernardina, B., Ellis, C. A., Furia, F., Gardiner, F., Giron, C., Guerrini, R., Klein, K. M., Korff, C., Krijtova, H., Leffner, M., Lerche, H., Lesca, G., & 21 othersLewis-Smith, D., Marini, C., Marjanovic, D., Mazzola, L., McKeown Ruggiero, S., Mochel, F., Ramond, F., Reif, P. S., Richard-Mornas, A., Rosenow, F., Schropp, C., Thomas, R. H., Vignoli, A., Weber, Y., Palmer, E., Helbig, I., Scheffer, I. E., Striano, P., Møller, R. S., Gardella, E. & Weckhuysen, S., 19. Jul 2022, In: Neurology. 99, 3, p. E221-E233 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

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  • 2021

    Sleep problems in patients with SCN8A epilepsy

    Furia, F., Johannesen, K. M., Bonardi, C. M., Savoie, H., Scarcelli, C., Waegner, R., Clay, B., Moeller, R. S. & Gardella, E., 3. Nov 2021, In: Epilepsia. 62, Suppl. 3, p. 221 1 p.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • The KCNB1 phenotypic and genetic spectrum

    Reale, C., Fenger, C. D., Neu, A., Sukno, S., McKeown, S., Borovikov, A., Gorman, K., Trivisano, M., Lo Barco, T., Krey, I., Navarro, I. M. M., La Selva, L., Bayat, A., Bijlsma, E. K., Rokkjaer, M., Borggrafe, I., Sauders, C. J., Yis, U., Ram, D., Bierhals, T., & 39 othersFrancannet, C., Bonardi, C. M., Goldenberg, A., Dadali, E., Green, A., Cohen, R., Muhle, H., Beniczky, S., Massingham, L., Fusco, C., Specchio, N., Allen, N. M., Cantalupo, G., Sharkov, A., Helbig, I., Gerard, B., Lessel, D., Rubboli, G., Moeller, R. S., Gardella, E., McKeowns, S., Furia, F., Afawi, Z., Bernardina, B. D., Campbell, W., Fiedler, B., Fontana, E., Hall, A. S., Hoi-Hansen, C., Klein, K. M., King, M., Lynch, B., Lemke, J., Gaudda, A., Nikanorova, M., Rahner, M., Spagnoli, C., Banka, S. & Pendziwiat, M., Nov 2021, In: Epilepsia. 62, Suppl. 3, p. 222-223 2 p.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • The natural history of SCN8A epilepsy and realted diseases

    Gardella, E., Furia, F., Johannesen, K. M., Moeller, R. S. & SCN8A study group , Nov 2021, In: Epilepsia. 62, Suppl. 3, p. 28-29 2 p.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review