Guido Rubboli

Guido Rubboli

Clinical Professor

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    ORCID: 0000-0002-5309-2514

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    1. Published

      Encephalopathy related to status epilepticus during sleep due to a de novo KCNA1 variant in the Kv-specific Pro-Val-Pro motif: phenotypic description and remarkable electroclinical response to ACTH

      Russo, A., Gobbi, G., Pini, A., M⊘ller, R. S. & Rubboli, Guido, 2020, In: Epileptic Disorders. 22, 6, p. 802-806 5 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    2. Published

      Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity

      Rychkov, G. Y., Shaukat, Z., Lim, C. X., Hussain, R., Roberts, B. J., Bonardi, C. M., Rubboli, Guido, Meaney, B. F., Whitney, R., Møller, R. S., Ricos, M. G. & Dibbens, L. M., 2022, In: International Journal of Molecular Sciences. 23, 23, 15133.

      Research output: Contribution to journal › Journal article › Research › peer-review

    3. Published

      Sex-specific disease modifiers in juvenile myoclonic epilepsy

      Shakeshaft, A., Panjwani, N., Collingwood, A., Crudgington, H., Hall, A., Andrade, D. M., Beier, C. P., Fong, C. Y., Gardella, E., Gesche, J., Greenberg, D. A., Hamandi, K., Koht, J., Lim, K. S., Møller, R. S., Ng, C. C., Orsini, A., Rees, M. I., Rubboli, G., Selmer, K. K. & 7 others, Striano, P., Syvertsen, M., Thomas, R. H., Zarubova, J., Richardson, M. P., Strug, L. J. & Pal, D. K., 2022, In: Scientific Reports. 12, 1, 12 p., 2785.

      Research output: Contribution to journal › Journal article › Research › peer-review

    4. Published

      Trait impulsivity in Juvenile Myoclonic Epilepsy

      Shakeshaft, A., Panjwani, N., McDowall, R., Crudgington, H., Ceballos, J. P., Andrade, D. M., Beier, C. P., Fong, C. Y., Gesche, J., Greenberg, D. A., Hamandi, K., Koht, J., Lim, K. S., Orsini, A., Rees, M., Rubboli, G., Selmer, K. K., Smith, A. B., Striano, P., Syvertsen, M. & 7 others, Talvik, I., Thomas, R. H., Zarubova, J., Richardson, M. P., Strug, L. J., Pal, D. K. & BIOJUME Consortium, B. C., 2021, In: Annals of Clinical and Translational Neurology. 8, 1, p. 138-152

      Research output: Contribution to journal › Journal article › Research › peer-review

    5. Published

      Ictal and interictal electric source imaging in pre-surgical evaluation: a prospective study

      Sharma, P., Scherg, M., Pinborg, Lars Hageman, Fabricius, M., Rubboli, Guido, Pedersen, B., Leffers, A., Uldall, P., Jespersen, B., Brennum, J., Henriksen, O. M. & Beniczky, S., 2018, In: European Journal of Neurology. 25, 9, p. 1154-1160 7 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    6. Published

      Prevalence of sleep-related hypermotor epilepsy-formerly named nocturnal frontal lobe epilepsy-in the adult population of the emilia-romagna region, Italy

      Vignatelli, L., Bisulli, F., Giovannini, G., Licchetta, L., Naldi, I., Mostacci, B., Rubboli, Guido, Provini, F., Tinuper, P. & Meletti, S., 2017, In: Sleep. 40, 2, 1 p., zsw041.

      Research output: Contribution to journal › Comment/debate › Research

    7. Published

      Current standards of neuropsychological assessment in epilepsy surgery centers across Europe

      Vogt, V. L., Äikiä, M., del Barrio, A., Boon, P., Borbély, C., Bran, E., Braun, K., Carette, E., Clark, M., Cross, J. H., Dimova, P., Fabo, D., Foroglou, N., Francione, S., Gersamia, A., Gil-Nagel, A., Guekht, A., Harrison, S., Hecimovic, H., Heminghyt, E. & 37 others, Hirsch, E., Javurkova, A., Kälviäinen, R., Kavan, N., Kelemen, A., Kimiskidis, V. K., Kirschner, M., Kleitz, C., Kobulashvili, T., Kosmidis, M. H., Kurtish, S. Y., Lesourd, M., Ljunggren, S., Lossius, M. I., Malmgren, K., Mameniskiené, R., Martin-Sanfilippo, P., Marusic, P., Miatton, M., Özkara, Ç., Pelle, F., Rubboli, Guido, Rudebeck, S., Ryvlin, P., van Schooneveld, M., Schmid, E., Schmidt, P. M., Seeck, M., Steinhoff, B. J., Shavel-Jessop, S., Tarta-Arsene, O., Trinka, E., Viggedal, G., Wendling, A., Witt, J., Helmstaedter, C. & the E-PILEPSY consortium, T. E. C., Mar 2017, In: Epilepsia. 58, 3, p. 343-355 13 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    8. Published

      Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy

      Wengert, E. R., Tronhjem, C. E., Wagnon, J. L., Johannesen, K. M., Petit, H., Krey, I., Saga, A. U., Panchal, P. S., Strohm, S. M., Lange, J., Kamphausen, S. B., Rubboli, Guido, Lemke, J. R., Gardella, E., Patel, M. K., Meisler, M. H. & Møller, R. S., 2019, In: Epilepsia. 60, 11, p. 2277-2285 9 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

    9. Published

      Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

      Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., Afenjar, A., Chantot-Bastaraud, S., Mignot, C., Lardennois, C., Nava, C., Schwarz, N., Gérard, M., Perrin, L., Doummar, D., Auvin, S. & 30 others, Miranda, Maria J., Hempel, M., Brilstra, E., Knoers, N., Verbeek, N., Van Kempen, M., Braun, K. P., Mancini, G., Biskup, S., Hörtnagel, K., Döcker, M., Bast, T., Loddenkemper, T., Wong-Kisiel, L., Baumeister, F. M., Fazeli, W., Striano, P., Dilena, R., Fontana, E., Zara, F., Kurlemann, G., Klepper, J., Thoene, J. G., Arndt, D. H., Deconinck, N., Schmitt-Mechelke, T., Maier, O., Muhle, H., Wical, B. & Møller, R. S., May 2017, In: Brain. 140, 5, p. 1316-1336

      Research output: Contribution to journal › Journal article › Research › peer-review

    10. Published

      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, Guido, Rader, D. J., Schjoldager, Katrine Ter-Borch Gram & Møller, R. S., 2020, In: Brain. 143, 4, p. 1114-1126 13 p.

      Research output: Contribution to journal › Journal article › Research › peer-review

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    ID: 119733516