IRS,The Epilepsyhospital Filadelfia, Neurophysiology

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    Research Output

    • 13 Journal article
    • 5 Conference abstract in journal
    • 3 Book chapter
    • 1 Review

    Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)

    Bonardi, C. M., Mignot, C., Serratosa, J. M., Giraldez, B. G., Moretti, R., Rudolf, G., Reale, C., Gellert, P. M., Johannesen, K. M., Lesca, G., Tassinari, C. A., Gardella, E., Møller, R. S. & Rubboli, G., May 2020, In : Clinical Neurophysiology. 131, 5, p. 1030-1039

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

    Zilmer, M., Edmondson, A. C., Khetarpal, S. A., Alesi, V., Zaki, M. S., Rostasy, K., Madsen, C. G., Lepri, F. R., Sinibaldi, L., Cusmai, R., Novelli, A., Issa, M. Y., Fenger, C. D., Jamra, R. A., Reutter, H., Briuglia, S., Agolini, E., Hansen, L., Petäjä-Repo, U. E., Hintze, J. & 12 others, Raymond, K. M., Liedtke, K., Stanley, V., Musaev, D., Gleeson, J. G., Vitali, C., O’Brien, W. T., Gardella, E., Rubboli, G., Rader, D. J., Schjoldager, K. T. & Møller, R. S., 15. Apr 2020, In : Brain. 143, 4, p. 1114-1126

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study

    EpiPGX Consortium, 14. Apr 2020, In : Pharmacogenomics. 21, 5, p. 325-335

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Recent advances in treatment of epilepsy-related sodium channelopathies

    Musto, E., Gardella, E. & Møller, R. S., Jan 2020, In : European Journal of Paediatric Neurology. 24, p. 123-128

    Research output: Contribution to journalReviewResearchpeer-review

  • REM-sleep related hypermotor seizures: Video documentation and ictal source imaging

    Arbune, A. A., Nikanorova, M., Terney, D. & Beniczky, S., 1. Jan 2020, In : Brain and Development.

    Research output: Contribution to journalJournal articleResearchpeer-review