Guido Rubboli
Clinical Professor
- 2024
- Accepted/In press
ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients
Córdoba, N. M., Lince-Rivera, I., Gómez, J. L. R., Rubboli, Guido & De la Rosa, S. O., 2024, (Accepted/In press) In: Epileptic Disorders. 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial
RESCUE ESES study group, R. E. S. G., 2024, In: The Lancet Neurology. 23, 2, p. 147-156 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Developmental epileptic encephalopathy in DLG4-related synaptopathy
Kassabian, B., Levy, A. M., Gardella, E., Aledo-Serrano, A., Ananth, A. L., Brea-Fernández, A. J., Caumes, R., Chatron, N., Dainelli, A., De Wachter, M., Denommé-Pichon, A-S., Dye, T. J., Fazzi, E., Felt, R., Fernández-Jaén, A., Fernández-Prieto, M., Gantz, E., Gasperowicz, P., Gil-Nagel, A., Gómez-Andrés, D. & 44 others, , 2024, In: Epilepsia. 65, 4, p. 1029-1045 17 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Prediction tools and risk stratification in epilepsy surgery
Hadady, L., Sperling, M. R., Alcala-Zermeno, J. L., French, J. A., Dugan, P., Jehi, L., Fabó, D., Klivényi, P., Rubboli, Guido & Beniczky, S., 2024, In: Epilepsia. 65, 2, p. 414-421 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2023
- Published
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, Guido, 2023, In: Epilepsia. 64, 8, p. e170-e176 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties
Cioclu, M. C., Mosca, I., Ambrosino, P., Puzo, D., Bayat, A., Wortmann, S. B., Koch, J., Strehlow, V., Shirai, K., Matsumoto, N., Sanders, S. J., Michaud, V., Legendre, M., Riva, A., Striano, P., Muhle, H., Pendziwiat, M., Lesca, G., Mangano, G. D., Nardello, R. & 6 others, , 2023, In: Annals of Neurology. 94, 2, p. 332-349Research output: Contribution to journal › Journal article › Research › peer-review
- Published
PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES)
Cossu, A., Santos, J. L., Galati, G., Nikanorova, M., Costa, P., Mang, Y., Silahtaroglu, Asli, Rubboli, Guido, Tommerup, Niels, Dalla Bernardina, B., Møller, R. S., Cantalupo, G. & Gardella, E., 2023, In: Neurological Sciences. 44, 6, p. 2173-2176 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Editorial: SLC6A1: the past, present and future
Johannesen, K. M., Pérez-Palma, E. & Rubboli, Guido, 2023, In: Frontiers in Neuroscience. 17, 2 p., 1289821.Research output: Contribution to journal › Editorial › Research › peer-review
- Published
Encephalopathy related to status epilepticus during slow sleep (ESES). Pathophysiological insights and nosological considerations
Rubboli, Guido, Gardella, E., Cantalupo, G. & Alberto Tassinari, C., 2023, In: Epilepsy and Behavior. 140, 109105.Research output: Contribution to journal › Review › Research › peer-review
- Published
Intrafamilial variability in SLC6A1-related neurodevelopmental disorders: [Inkl. Correction]
Kassabian, B., Fenger, C. D., Willems, M., Aledo-Serrano, A., Linnankivi, T., McDonnell, P. P., Lusk, L., Jepsen, B. S., Bayat, M., Kattentidt, A., Vidal, A. A., Valero-Lopez, G., Alarcon-Martinez, H., Goodspeed, K., van Slegtenhorst, M., Barakat, T. S., Møller, R. S., Johannesen, K. M. & Rubboli, Guido, 2023, In: Frontiers in Neuroscience. 17, 11 p., 1219262.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum
Rossi, A., Blok, L. S., Neuser, S., Klöckner, C., Platzer, K., Faivre, L. O., Weigand, H., Dentici, M. L., Tartaglia, M., Niceta, M., Alfieri, P., Srivastava, S., Coulter, D., Smith, L., Vinorum, K., Cappuccio, G., Brunetti-Pierri, N., Torun, D., Arslan, M., Lauridsen, M. F. & 23 others, , 2023, In: Clinical Genetics. 104, 2, p. 186-197Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Postprocessing of MRIs Using FreeSurfer in Epilepsy Surgery Patients Provides an Excellent Imaging Marker of Hippocampal Sclerosis but Fails to Separate Subtypes
Kloster, A. G., Opheim, G., Alfstad, K., Larsen, K. B., Niehusmann, P., Holm, E., Fink-Jensen, P., Lund, Eva Løbner, Jespersen, B., Ivanovic, J., Rubboli, Guido, Madsen, C. G., Marthinsen, P. B., Ganz, Melanie, Lossius, M. & Pinborg, Lars Hageman, 2023, In: Acta Neurologica Scandinavica. 2023, 10 p., 2366355.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders
Johannesen, K. M., Nielsen, Jimmi, Sabers, A., Isidor, B., Kattentidt-Mouravieva, A. A., Zieglgänsberger, D., Heidlebaugh, A. R., Oetjens, K. F., Vidal, A. A., Christensen, J., Tiller, J., Freed, A. N., Møller, R. S. & Rubboli, Guido, 2023, In: Frontiers in Neuroscience. 17, 7 p., 1216653.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Transcranial magnetic stimulation in progressive myoclonus epilepsy: A promising tool for “deep phenotyping” in genetic epilepsies
Rubboli, Guido & Valzania, F., 2023, In: Epilepsia. 64, 9, p. 2534-2535 2 p.Research output: Contribution to journal › Comment/debate › Research › peer-review
- Published
Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications
BIOJUME Consortium, B. C., 2023, In: Brain Communications. 5, 3, 18 p., fcad182.Research output: Contribution to journal › Review › Research › peer-review
- Published
Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss-of-function variant
Gjerulfsen, C. E., Mieszczanek, T. S., Johannesen, K. M., Liao, V. W. Y., Chebib, M., Nørby, H. A. J., Gardella, E., Rubboli, Guido, Ahring, P. & Møller, R. S., 2023, In: Annals of Clinical and Translational Neurology. 10, 8, p. 1493-1498 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2022
- Published
Answer to: Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022). EJMG-D-22-00384
Amadori, E., Pellino, G., Bansal, L., Mazzone, S., Møller, R. S., Rubboli, Guido, Striano, P. & Russo, A., 2022, In: European Journal of Medical Genetics. 65, 12, 104634.Research output: Contribution to journal › Comment/debate › Research › peer-review
- Published
Automated ictal EEG source imaging: A retrospective, blinded clinical validation study
Baroumand, A. G., Arbune, A. A., Strobbe, G., Keereman, V., Pinborg, Lars Hageman, Fabricius, M., Rubboli, Guido, Gøbel Madsen, C., Jespersen, B., Brennum, J., Mølby Henriksen, O., Mierlo, P. V. & Beniczky, S., 2022, In: Clinical Neurophysiology. 141, p. 119-125Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Epilepsy in neurodegenerative diseases
Neri, S., Mastroianni, G., Gardella, E., Aguglia, U. & Rubboli, Guido, 2022, In: Epileptic Disorders. 24, 2, p. 249-273 25 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Expanding the phenotype of PURA-related developmental epileptic encephalopathy
Rubboli, Guido & Johannesen, K. M., 2022, In: Epileptic Disorders. 24, 2, p. 445-446 2 p.Research output: Contribution to journal › Comment/debate › Research › peer-review
- 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
- Published
Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy
Amadori, E., Pellino, G., Bansal, L., Mazzone, S., Møller, R. S., Rubboli, Guido, Striano, P. & Russo, A., 2022, In: European Journal of Medical Genetics. 65, 4, 104450.Research output: Contribution to journal › Review › Research › peer-review
- Published
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Johannesen, K. M., Liu, Y., Koko, M., Gjerulfsen, C. E., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N. A., Lauxmann, S., Krüger, J., Kegele, J., Canafoglia, L., Franceschetti, S., Mayer, T., Rebstock, J., Zacher, P., Ruf, S., Alber, M. & 109 others, , 2022, In: Brain. 145, 9, p. 2991-3009 19 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies - a Study in a Tertiary Epilepsy Center
Bayat, A., Fenger, C. D., Techlo, T. R., Højte, A. F., Nørgaard, I., Hansen, Thomas Folkmann, Rubboli, Guido, Møller, R. S. & group, D. C. C. R. S., 2022, In: Neurotherapeutics. 19, p. 1353–1367Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Pseudoresistance in idiopathic/genetic generalized epilepsies – Definitions, risk factors, and outcome
Gesche, J., Cornwall, C. D., Delcomyn, L., Rubboli, Guido & Beier, C. P., 2022, In: Epilepsy and Behavior. 130, 108633.Research output: Contribution to journal › Journal article › Research › peer-review
- 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, , 2022, In: Scientific Reports. 12, 1, 12 p., 2785.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome
Bonardi, C. M., Bayat, A., Madsen, C. G., Hammer, T. B., Reale, C., Gardella, E., Marjanovic, D., Beniczky, S., M⊘ller, R. S. & Rubboli, Guido, 2022, In: Epileptic Disorders. 24, 3, p. 577-582 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Web-based decision support system for patient-tailored selection of antiseizure medication in adolescents and adults: An external validation study
Hadady, L., Klivényi, P., Perucca, E., Rampp, S., Fabó, D., Bereczki, C., Rubboli, Guido, Asadi-Pooya, A. A., Sperling, M. R. & Beniczky, S., 2022, In: European Journal of Neurology. 29, 2, p. 382-389 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- 2021
- Published
PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum
Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., Wierenga, K. J., Isidor, B., Piton, A., Faivre, L., Garde, A., Moutton, S., Tran-Mau-Them, F., Denommé-Pichon, A. S., Coubes, C., Larson, A. & 30 others, , 15 Dec 2021, In: Neurology: Genetics. 7, 6, e613.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
PRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders
Bayat, Allan, Iqbal, S., Borredy, K., Amiel, J., Zweier, C., Barcia, G., Kraus, C., Weyhreter, H., Bassuk, A. G., Chopra, M., Rubboli, Guido & Møller, R. S., Aug 2021, In: European Journal of Human Genetics. 29, 8, p. 1235-1244 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
A web-based algorithm to rapidly classify seizures for the purpose of drug selection
Beniczky, S., Asadi-Pooya, A. A., Perucca, E., Rubboli, Guido, Tartara, E., Meritam Larsen, P., Ebrahimi, S., Farzinmehr, S., Rampp, S. & Sperling, M. R., 2021, In: Epilepsia. 62, 10, p. 2474-2484Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Deciphering the premature mortality in PIGA-CDG – An untold story
Bayat, A., Kløvgaard, M., Johannesen, K. M., Stefan Barakat, T., Kievit, A., Montomoli, M., Parrini, E., Pietrafusa, N., Schelhaas, J., van Slegtenhorst, M., Miya, K., Guerrini, R., Tranebjærg, Lisbeth, Tümer, Asuman Zeynep, Rubboli, Guido & Møller, R. S., 2021, In: Epilepsy Research. 170, 106530.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures
Bayat, A., Pendziwiat, M., Obersztyn, E., Goldenberg, P., Zacher, P., Döring, J. H., Syrbe, S., Begtrup, A., Borovikov, A., Sharkov, A., Karasińska, A., Giżewska, M., Mitchell, W., Morava, E., Møller, R. S. & Rubboli, Guido, 2021, In: Frontiers in Genetics. 12, 663643.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Epilepsy syndromes in the first year of life and usefulness of genetic testing for precision therapy
Bayat, A., Bayat, M., Rubboli, Guido & Møller, R. S., 2021, In: Genes. 12, 7, 1051.Research output: Contribution to journal › Review › Research › peer-review
- Published
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
Bonardi, C. M., Heyne, H. O., Fiannacca, M., Fitzgerald, M. P., Gardella, E., Gunning, B., Olofsson, K., Lesca, G., Verbeek, N., Stamberger, H., Striano, P., Zara, F., Mancardi, M. M., Nava, C., Syrbe, S., Buono, S., Baulac, S., Coppola, A., Weckhuysen, S., Schoonjans, A. S. & 28 others, , 2021, In: Brain. 144, 12, p. 3635-3650 16 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Magnetic evoked potential polyphasia in idiopathic/genetic generalized epilepsy: An endophenotype not associated with treatment response
Gesche, J., Wüstenhagen, S., Krøigård, T., Rubboli, Guido & Beier, C. P., 2021, In: Clinical Neurophysiology. 132, 7, p. 1499-1504 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Optimal choice of antiseizure medication: Agreement among experts and validation of a web-based decision support application
Beniczky, S., Rampp, S., Asadi-Pooya, A. A., Rubboli, Guido, Perucca, E. & Sperling, M. R., 2021, In: Epilepsia. 62, 1, p. 220-227 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Risk factors of paradoxical reactions to anti-seizure medication in genetic generalized epilepsy
Gesche, J., Hjalgrim, H., Rubboli, Guido & Beier, C. P., 2021, In: Epilepsy Research. 170, 106547.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Standard procedures for the diagnostic pathway of sleep-related epilepsies and comorbid sleep disorders: an EAN, ESRS and ILAE-Europe consensus review
Nobili, L., de Weerd, A., Rubboli, Guido, Beniczky, S., Derry, C., Eriksson, S., Halasz, P., Högl, B., Santamaria, J., Khatami, R., Ryvlin, P., Rémi, J., Tinuper, P., Bassetti, C., Manni, R., Koutroumanidis, M. & Vignatelli, L., 2021, In: European Journal of Neurology. 28, 1, p. 15-32Research output: Contribution to journal › Journal article › Research › peer-review
- Published
The EpiPick algorithm to select appropriate antiseizure medications in patients with epilepsy: Validation studies and updates
Asadi-Pooya, A. A., Beniczky, S., Rubboli, Guido, Sperling, M. R., Rampp, S. & Perucca, E., 2021, In: Epilepsia. 63, 1, p. 254-255Research output: Contribution to journal › Comment/debate › Research › peer-review
- 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, , 2021, In: Annals of Clinical and Translational Neurology. 8, 1, p. 138-152Research output: Contribution to journal › Journal article › Research › peer-review
- 2020
- Published
Standard procedures for the diagnostic pathway of sleep-related epilepsies and comorbid sleep disorders: A European Academy of Neurology, European Sleep Research Society and International League against Epilepsy-Europe consensus review
Nobili, L., de Weerd, A., Rubboli, Guido, Beniczky, S., Derry, C., Eriksson, S., Halasz, P., Högl, B., Santamaria, J., Khatami, R., Ryvlin, P., Rémi, J., Tinuper, P., Bassetti, C., Manni, R., Koutroumanidis, M. & Vignatelli, L., Dec 2020, In: Journal of Sleep Research. 29, 6, 18 p., e13184.Research output: Contribution to journal › Review › Research › peer-review
- Published
A pragmatic algorithm to select appropriate antiseizure medications in patients with epilepsy
Asadi-Pooya, A. A., Beniczky, S., Rubboli, Guido, Sperling, M. R., Rampp, S. & Perucca, E., 2020, In: Epilepsia. 61, 8, p. 1668-1677Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Absence-to-bilateral-tonic-clonic seizure A generalized seizure type
Beniczky, S., Rubboli, Guido, Covanis, A. & Sperling, M. R., 2020, In: Neurology. 95, 14, p. E2009-E2015 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Diagnostic added value of electrical source imaging in presurgical evaluation of patients with epilepsy: A prospective study
Foged, M. T., Martens, T., Pinborg, Lars Hageman, Hamrouni, Nizar, Litman, M., Rubboli, Guido, Leffers, A., Ryvlin, Philippe, Jespersen, B., Paulson, Olaf B., Fabricius, M. & Beniczky, S., 2020, In: Clinical Neurophysiology. 131, 1, p. 324-329Research output: Contribution to journal › Journal article › Research › peer-review
- 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
- Published
Epidemiology and outcome of idiopathic generalized epilepsy in adults
Gesche, J., Christensen, J., Hjalgrim, H., Rubboli, Guido & Beier, C. P., 2020, In: European Journal of Neurology. 27, 4, p. 676-684Research output: Contribution to journal › Journal article › Research › peer-review
- Published
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, Guido, 2020, In: Clinical Neurophysiology. 131, 5, p. 1030-1039Research output: Contribution to journal › Journal article › Research › peer-review
- Published
Genetic testing in adult epilepsy patients: A call to action for clinicians
Rubboli, Guido, Møller, R. S. & Johannesen, K. M., 2020, In: Epilepsia. 61, 9, p. 2055-2056Research output: Contribution to journal › Letter › Research › peer-review
- Published
How to diagnose and classify idiopathic (genetic) generalized epilepsies
Elmali, A. D., Auvin, S., Bast, T., Rubboli, Guido & Koutroumanidis, M., 2020, In: Epileptic Disorders. 22, 4, p. 399-418 20 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 119733516
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The landscape of epilepsy-related GATOR1 variants
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Standardized computer-based organized reporting of EEG: SCORE - Second version
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Electromagnetic source imaging in presurgical workup of patients with epilepsy: A prospective study
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