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Guido Rubboli

MD, Professor

 https://orcid.org/0000-0002-5309-2514

  • Kolonivej 1, 4293 Dianalund

  • Blegdamsvej 3

    2200 København N.

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  • 2019

    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, G., 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

    18 Citations (Scopus)

  • Electromagnetic source imaging in presurgical workup of patients with epilepsy: A prospective study

    Duez, L., Tankisi, H., Hansen, P. O., Sidenius, P., Sabers, A., Pinborg, L. H., Fabricius, M., Rásonyi, G., Rubboli, G., Pedersen, B., Leffers, A-M., Uldall, P., Jespersen, B., Brennum, J., Henriksen, O. M., Fuglsang-Frederiksen, A. & Beniczky, S., 2019, In: Neurology. 92, 6, p. e576-e586

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

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    65 Citations (Scopus)
    186 Downloads (Pure)

  • From next-generation sequencing to targeted treatment of non-acquired epilepsies

    Møller, R. S., Hammer, T. B., Rubboli, G., Lemke, J. R. & Johannesen, K. M., Mar 2019, In: Expert Review of Molecular Diagnostics. 19, 3, p. 217-228 12 p.

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

    51 Citations (Scopus)

  • Idiopathic encephalopathy related to status epilepticus during slow sleep (ESES) as a “pure” model of epileptic encephalopathy. An electroclinical, genetic, and follow-up study

    Pavlidis, E., Møller, R. S., Nikanorova, M., Kölmel, M. S., Stendevad, P., Beniczky, S., Tassinari, C. A., Rubboli, G. & Gardella, E., 2019, In: Epilepsy and Behavior. 97, p. 244-252 9 p.

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

    18 Citations (Scopus)

  • The landscape of epilepsy-related GATOR1 variants

    Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., de Saint Martin, A., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmüller, G., Sisodiya, S. & 68 others, Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E., Jansen, F. E., Braun, K., de Jong, D., Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M-L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A-S., Jennesson, M., Sattar, S., Marchal, C., Nordli, D. R., Lindstrom, K., Striano, P., Lomax, L. B., Kiss, C., Bartolomei, F., Lepine, A. F., Schoonjans, A-S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., de Bellescize, J., Catenoix, H., Dorn, T., Zenker, M., Müller-Schlüter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C. J., Weckhuysen, S., Poduri, A., Lemke, J. R., Møller, R. S. & Baulac, S., Feb 2019, In: Genetics In Medicine. 21, 2, p. 398-408 11 p.

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

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    162 Citations (Scopus)
    632 Downloads (Pure)

  • The spectrum of intermediate SCN8A-related epilepsy

    Johannesen, K. M., Gardella, E., Encinas, A. C., Lehesjoki, A. E., Linnankivi, T., Petersen, M. B., Lund, I. C. B., Blichfeldt, S., Miranda, M. J., Pal, D. K., Lascelles, K., Procopis, P., Orsini, A., Bonuccelli, A., Giacomini, T., Helbig, I., Fenger, C. D., Sisodiya, S. M., Hernandez-Hernandez, L., Krithika, S. & 25 others, Rumple, M., Masnada, S., Valente, M., Cereda, C., Giordano, L., Accorsi, P., Bürki, S. E., Mancardi, M., Korff, C., Guerrini, R., von Spiczak, S., Hoffman-Zacharska, D., Mazurczak, T., Coppola, A., Buono, S., Vecchi, M., Hammer, M. F., Varesio, C., Veggiotti, P., Lal, D., Brünger, T., Zara, F., Striano, P., Rubboli, G. & Møller, R. S., 2019, In: Epilepsia. 60, 5, p. 830-844 15 p.

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

    Open Access
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    70 Citations (Scopus)
    33 Downloads (Pure)
  • 2018

    Automated EEG source imaging: A retrospective, blinded clinical validation study

    Baroumand, A. G., van Mierlo, P., Strobbe, G., Pinborg, L. H., Fabricius, M., Rubboli, G., Leffers, A. M., Uldall, P., Jespersen, B., Brennum, J., Henriksen, O. M. & Beniczky, S., 2018, In: Clinical Neurophysiology. 129, 11, p. 2403-2410 8 p.

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

    47 Citations (Scopus)

  • Defining the phenotypic spectrum of SLC6A1 mutations

    Johannesen, K. M., Gardella, E., Linnankivi, T., Courage, C., de Saint Martin, A., Lehesjoki, A. E., Mignot, C., Afenjar, A., Lesca, G., Abi-Warde, M. T., Chelly, J., Piton, A., Merritt, J. L., Rodan, L. H., Tan, W. H., Bird, L. M., Nespeca, M., Gleeson, J. G., Yoo, Y., Choi, M. & 32 others, Chae, J. H., Czapansky-Beilman, D., Reichert, S. C., Pendziwiat, M., Verhoeven, J. S., Schelhaas, H. J., Devinsky, O., Christensen, J., Specchio, N., Trivisano, M., Weber, Y. G., Nava, C., Keren, B., Doummar, D., Schaefer, E., Hopkins, S., Dubbs, H., Shaw, J. E., Pisani, L., Myers, C. T., Tang, S., Tang, S., Pal, D. K., Millichap, J. J., Carvill, G. L., Helbig, K. L., Mecarelli, O., Striano, P., Helbig, I., Rubboli, G., Mefford, H. C. & Møller, R. S., Feb 2018, In: Epilepsia. 59, 2, p. 389-402 14 p.

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

    Open Access
    97 Citations (Scopus)

  • Early mortality in SCN8A-related epilepsies

    Johannesen, K. M., Gardella, E., Scheffer, I., Howell, K., Smith, D. M., Helbig, I., Møller, R. S. & Rubboli, G., 2018, In: Epilepsy Research. 143, p. 79-81 3 p.

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

    50 Citations (Scopus)

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

    Sharma, P., Scherg, M., Pinborg, L. H., Fabricius, M., Rubboli, G., Pedersen, B., Leffers, A-M., 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

    55 Citations (Scopus)
  • 2017

    Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations

    Pavlidis, E., Uldall, P., Gøbel Madsen, C., Nikanorova, M., Fabricius, M., Høgenhaven, H., Pisani, F., Møller, R. S., Gardella, E. & Rubboli, G., 2017, In: Epileptic Disorders. 19, 2, p. 226-230

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

    6 Citations (Scopus)

  • Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies

    Masnada, S., Hedrich, U. B. S., Gardella, E., Schubert, J., Kaiwar, C., Klee, E. W., Lanpher, B. C., Gavrilova, R. H., Synofzik, M., Bast, T., Gorman, K., King, M. D., Allen, N. M., Conroy, J., Ben Zeev, B., Tzadok, M., Korff, C., Dubois, F., Ramsey, K., Narayanan, V. & 23 others, Serratosa, J. M., Giraldez, B. G., Helbig, I., Marsh, E., O'Brien, M., Bergqvist, C. A., Binelli, A., Porter, B., Zaeyen, E., Horovitz, D. D., Wolff, M., Marjanovic, D., Caglayan, H. S., Arslan, M., Pena, S. D. J., Sisodiya, S. M., Balestrini, S., Syrbe, S., Veggiotti, P., Lemke, J. R., Møller, R. S., Lerche, H. & Rubboli, G., Sep 2017, In: Brain. 140, 9, p. 2337-2354

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

    126 Citations (Scopus)

  • 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, G., 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-S., Witt, J-A., Helmstaedter, C. & the E-PILEPSY consortium, Mar 2017, In: Epilepsia. 58, 3, p. 343-355 13 p.

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

    82 Citations (Scopus)

  • Epilepsy surgery of “low grade epilepsy associated neuroepithelial tumors”: A retrospective nationwide Italian study

    Giulioni, M., Marucci, G., Pelliccia, V., Gozzo, F., Barba, C., Didato, G., Villani, F., Di Gennaro, G., Quarato, P. P., Esposito, V., Consales, A., Martinoni, M., Vornetti, G., Zenesini, C., Efisio Marras, C., Specchio, N., De Palma, L., Rocchi, R., Giordano, F., Tringali, G. & 9 others, Nozza, P., Colicchio, G., Rubboli, G., Lo Russo, G., Guerrini, R., Tinuper, P., Cardinale, F., Cossu, M. & the Commission for Epilepsy Surgery of the Italian League Against Epilepsy, Nov 2017, In: Epilepsia. 58, 11, p. 1832-1841 10 p.

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

    48 Citations (Scopus)

  • 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, M. 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

    Open Access
    425 Citations (Scopus)

  • Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study

    Barba, C., Specchio, N., Guerrini, R., Tassi, L., De Masi, S., Cardinale, F., Pellacani, S., De Palma, L., Battaglia, D., Tamburrini, G., Didato, G., Freri, E., Consales, A., Nozza, P., Zamponi, N., Cesaroni, E., Di Gennaro, G., Esposito, V., Giulioni, M., Tinuper, P. & 7 others, Colicchio, G., Rocchi, R., Rubboli, G., Giordano, F., Russo, G. L., Marras, C. E. & Cossu, M., Oct 2017, In: Epilepsy and Behavior. 75, p. 151-157

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

    29 Citations (Scopus)

  • Management of Antiepileptic Treatment After Epilepsy Surgery: Practices and Problems

    Rubboli, G., Sabers, A., Uldall, P. & Malmgren, K., 2017, In: Current Pharmaceutical Design. 23, 37, p. 5749-5759

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

    7 Citations (Scopus)

  • Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

    Møller, R. S., Wuttke, T. V., Helbig, I., Marini, C., Johannesen, K. M., Brilstra, E. H., Vaher, U., Borggraefe, I., Talvik, I., Talvik, T., Kluger, G., Francois, L. L., Lesca, G., de Bellescize, J., Blichfeldt, S., Chatron, N., Holert, N., Jacobs, J., Swinkels, M., Betzler, C. & 22 others, Syrbe, S., Nikanorova, M., Myers, C. T., Larsen, L. H. G., Vejzovic, S., Pendziwiat, M., von Spiczak, S., Hopkins, S., Dubbs, H., Mang, Y., Mukhin, K., Holthausen, H., van Gassen, K. L., Dahl, H. A., Tommerup, N., Mefford, H. C., Rubboli, G., Guerrini, R., Lemke, J. R., Lerche, H., Muhle, H. & Maljevic, S., 31 Jan 2017, In: Neurology. 88, 5, p. 483-492 10 p.

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

    Open Access
    89 Citations (Scopus)

  • Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

    Oliver, K. L., Franceschetti, S., Milligan, C. J., Muona, M., Mandelstam, S. A., Canafoglia, L., Boguszewska-Chachulska, A. M., Korczyn, A. D., Bisulli, F., Di Bonaventura, C., Ragona, F., Michelucci, R., Ben-Zeev, B., Straussberg, R., Panzica, F., Massano, J., Friedman, D., Crespel, A., Engelsen, B. A., Andermann, F. & 20 others, Andermann, E., Spodar, K., Lasek-Bal, A., Riguzzi, P., Pasini, E., Tinuper, P., Licchetta, L., Gardella, E., Lindenau, M., Wulf, A., Møller, R. S., Benninger, F., Afawi, Z., Rubboli, G., Reid, C. A., Maljevic, S., Lerche, H., Lehesjoki, A. E., Petrou, S. & Berkovic, S. F., May 2017, In: Annals of Neurology. 81, 5, p. 677-689

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

    65 Citations (Scopus)

  • Remission of encephalopathy with status epilepticus (ESES) during sleep renormalizes regulation of slow wave sleep

    Bölsterli, B. K., Gardella, E., Pavlidis, E., Wehrle, F. M., Tassinari, C. A., Huber, R. & Rubboli, G., Nov 2017, In: Epilepsia. 58, 11, p. 1892-1901

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

    43 Citations (Scopus)

  • Standardized computer-based organized reporting of EEG: SCORE - Second version

    Beniczky, S., Aurlien, H., Brøgger, J. C., Hirsch, L. J., Schomer, D. L., Trinka, E., Pressler, R. M., Wennberg, R., Visser, G. H., Eisermann, M., Diehl, B., Lesser, R. P., Kaplan, P. W., Nguyen The Tich, S., Lee, J. W., Martins-da-Silva, A., Stefan, H., Neufeld, M., Rubboli, G., Fabricius, M. & 19 others, Gardella, E., Terney, D., Meritam, P., Eichele, T., Asano, E., Cox, F., van Emde Boas, W., Mameniskiene, R., Marusic, P., Zárubová, J., Schmitt, F. C., Rosén, I., Fuglsang-Frederiksen, A., Ikeda, A., MacDonald, D. B., Terada, K., Ugawa, Y., Zhou, D. & Herman, S. T., Nov 2017, In: Clinical Neurophysiology. 128, 11, p. 2334-2346

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

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    95 Citations (Scopus)
    419 Downloads (Pure)
  • 2015

    MicroRNA profiles in hippocampal granule cells and plasma of rats with pilocarpine-induced epilepsy--comparison with human epileptic samples

    Roncon, P., Soukupovà, M., Binaschi, A., Falcicchia, C., Zucchini, S., Ferracin, M., Langley, S. R., Petretto, E., Johnson, M. R., Marucci, G., Michelucci, R., Rubboli, G. & Simonato, M., 2015, In: Scientific Reports. 5, 15 p., 14143.

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

    Open Access
    91 Citations (Scopus)