No photo of Elena Gardella

View Scopus Profile

Elena Gardella

 https://orcid.org/0000-0002-7138-6022
  • 94 Journal article
  • 16 Conference abstract in journal
  • 7 Comment/debate
  • 4 Book chapter
Filter
Journal article

Search results

  • 2025

    Cenobamate as add-on treatment for SCN8A developmental and epileptic encephalopathy

    Gjerulfsen, C. E., Oudin, M. J., Furia, F., Gverdtsiteli, S., Landmark, C. J., Trivisano, M., Balestrini, S., Guerrini, R., Aledo-Serrano, A., Morcos, R., Previtali, R., Veggiotti, P., Ricci, E., Rubboli, G., Gardella, E. & Møller, R. S., Apr 2025, In: Epilepsia. 66, 4, p. 1119-1128

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

  • Deciphering the Natural History of SCN8A-Related Disorders

    Magielski, J. H., Cohen, S., Kaufman, M. C., Parthasarathy, S., Xian, J., Brimble, E., Fitter, N., Furia, F., Gardella, E., Møller, R. S., Helbig, I. & McKee, J. L., 13. May 2025, In: Neurology. 104, 9, e213533.

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

  • Early mortality in STXBP1-related disorders

    European STXBP1 consortium (ESCO) & STXBP1 foundation, Mar 2025, In: Neurological Sciences. 46, 3, p. 1339-1347

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

    Open Access
    File

  • Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy

    Moya Quiros, V., Adham, A., Convers, P., Lesca, G., Mauguiere, F., Soulier, H., Arzimanoglou, A., Bayat, A., Braakman, H., Camdessanche, J. P., Casenave, P., Chaton, L., Chaix, Y., Chochoi, M., Depienne, C., Desportes, V., De Ridder, J., Dinkelacker, V., Gardella, E. & Kluger, G. J. & 11 others, Jung, J., Lemesle Martin, M., Mancardi, M. M., Mueller, M., Poulat, A. L., Platzer, K., Roubertie, A., Stokman, M. F., Vulto-van Silfhout, A. T., Wiegand, G. & Mazzola, L., Jan 2025, In: Annals of Neurology. 97, 1, p. 34-50

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

    Open Access
    File
    6 Downloads (Pure)

  • Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real-world study

    GENE-CBD Study Group, 24. Mar 2025, (E-pub ahead of print) In: Epilepsia.

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

    Open Access

  • MBOAT7 encephalopathy: Characterizing the neurology and epileptology

    De la Rosa, S. O., Rizzo, V., Jauss, R. T., Bartolomaeus, T., Escolar, M., Bernard, G., Gavrilova, R., Ahrens-Nicklas, R., Lemire, G., Boycott, K. M., Mercimek-Andrews, S., Prontera, P., Costa, C., Rakic, B., Boerkoel, C. F., Huynh, S., Huh, L., Sherr, E., Argilli, E. & Ortigoza-Escobar, J. D. & 9 others, Casas-Alba, D., Nunes, T., Koolen, D. A., Platzer, K., Khinchi, M. S., Gardella, E., Fenger, C. D., Møller, R. S. & Bayat, A., 21. Mar 2025, (E-pub ahead of print) In: Epilepsia.

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

    Open Access

  • The epilepsy–autism phenotype associated with developmental and epileptic encephalopathies: New mechanism-based therapeutic options

    Specchio, N., Di Micco, V., Aronica, E., Auvin, S., Balestrini, S., Brunklaus, A., Gardella, E., Scheper, M., Taglialatela, M., Trivisano, M. & Curatolo, P., Apr 2025, In: Epilepsia. 66, 4, p. 970-987

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

  • Unmasking the role of the occipital lobe in epilepsy with eyelid myoclonia

    Ricci, E., Mieszczanek, T. S., Zilmer, M., Cebula, K., Juhl, S., Nikanorova, M., Mieszczanek, K. M., Khinchi, M. S., Hesslow, B. I. U., Thygesen, K. S., Pedersen, C. R., Olofsson, K., Wüstenhagen, S., Møller, R., Rubboli, G., Beniczky, S. & Gardella, E., 2025, (E-pub ahead of print) In: Epilepsia.

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

    Open Access

  • Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy

    Rong, M., Marques, P. T., Ali, Q. Z., Morcos, R., Chandran, I., Qaiser, F., Møller, R. S., Bayat, A., Rubboli, G., Gardella, E., Reuter, M. S., Sands, T. T., Scheffer, I. E., Schneider, A., Poduri, A., Wirrell, E., Nabbout, R., Sullivan, J., Valente, K. & Auvin, S. & 4 others, Knupp, K. G., Brunklaus, A., Aledo-Serrano, Á. & Andrade, D. M., Jun 2025, In: Epilepsia. 66, 6, p. 2046-2052

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

    Open Access
  • 2024

    Clinical features and genotype–phenotype correlations in epilepsy patients with de novo DYNC1H1 variants

    Cuccurullo, C., Cerulli Irelli, E., Ugga, L., Riva, A., D'Amico, A., Cabet, S., Lesca, G., Bilo, L., Zara, F., Iliescu, C., Barca, D., Fung, F., Helbig, K., Ortiz-Gonzalez, X., Schelhaas, H. J., Willemsen, M. H., van der Linden, I., Canafoglia, L., Courage, C. & Gommaraschi, S. & 49 others, Gonzalez-Alegre, P., Bardakjian, T., Syrbe, S., Schuler, E., Lemke, J. R., Vari, S., Roende, G., Bak, M., Huq, M., Powis, Z., Johannesen, K. M., Hammer, T. B., Møller, R. S., Rabin, R., Pappas, J., Zupanc, M. L., Zadeh, N., Cohen, J., Naidu, S., Krey, I., Saneto, R., Thies, J., Licchetta, L., Tinuper, P., Bisulli, F., Minardi, R., Bayat, A., Villeneuve, N., Molinari, F., Salimi Dafsari, H., Moller, B., Le Roux, M., Houdayer, C., Vecchi, M., Mammi, I., Fiorini, E., Proietti, J., Ferri, S., Cantalupo, G., Battaglia, D. I., Gambardella, M. L., Contaldo, I., Brogna, C., Trivisano, M., De Dominicis, A., Bova, S. M., Gardella, E., Striano, P. & Coppola, A., Sept 2024, In: Epilepsia. 65, 9, p. 2728-2750

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

    Open Access
    File

  • 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, Greiner, H. M., Guerrini, R., Haanpää, M. K., Helin, M., Hoyer, J., Hurst, A. C. E., Kallish, S., Karkare, S. N., Khan, A., Kleinendorst, L., Koch, J., Kothare, S. V., Koudijs, S. M., Lagae, L., Lakeman, P., Leppig, K. A., Lesca, G., Lopergolo, D., Lusk, L., Mackenzie, A., Mei, D., Møller, R. S., Pereira, E. M., Platzer, K., Quelin, C., Revah-Politi, A., Rheims, S., Rodríguez-Palmero, A., Rossi, A., Santorelli, F., Seinfeld, S., Sell, E., Stephenson, D., Szczaluba, K., Trinka, E., Umair, M., Van Esch, H., van Haelst, M. M., Veenma, D. C. M., Weber, S., Weckhuysen, S., Zacher, P., Tümer, Z. & Rubboli, G., Apr 2024, In: Epilepsia. 65, 4, p. 1029-1045

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

    Open Access
    File
    6 Downloads (Pure)

  • Epilepsy as a Novel Phenotype of BPTF-Related Disorders

    Ferretti, A., Furlan, M., Glinton, K. E., Fenger, C. D., Boschann, F., Amlie-Wolf, L., Zeidler, S., Moretti, R., Stoltenburg, C., Tarquinio, D. C., Furia, F., Parisi, P., Rubboli, G., Devinsky, O., Mignot, C., Gripp, K. W., Møller, R. S., Yang, Y., Stankiewicz, P. & Gardella, E., Sept 2024, In: Pediatric Neurology. 158, p. 17-25

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

  • GABRA1-Related Disorders: From Genetic to Functional Pathways

    Musto, E., Liao, V. W. Y., Johannesen, K. M., Fenger, C. D., Lederer, D., Kothur, K., Fisk, K., Bennetts, B., Vrielynck, P., Delaby, D., Ceulemans, B., Weckhuysen, S., Sparber, P., Bouman, A., Ardern-Holmes, S., Troedson, C., Battaglia, D. I., Goel, H., Feyma, T. & Bakhtiari, S. & 28 others, Tjoa, L., Boxill, M., Demina, N., Shchagina, O., Dadali, E., Kruer, M., Cantalupo, G., Contaldo, I., Polster, T., Isidor, B., Bova, S. M., Fazeli, W., Wouters, L., Miranda, M. J., Darra, F., Pede, E., Le Duc, D., Jamra, R. A., Küry, S., Proietti, J., McSweeney, N., Brokamp, E., Andrews, P. I., Gouray Garcia, M., Chebib, M., Møller, R. S., Ahring, P. K. & Gardella, E., Jan 2024, In: Annals of Neurology. 95, 1, p. 27-41

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

    Open Access
    File
    36 Downloads (Pure)

  • Global modified-Delphi consensus on comorbidities and prognosis of SCN8A-related epilepsy and/or neurodevelopmental disorders

    Conecker, G., Xia, M. Y., Hecker, J. E., Achkar, C., Cukiert, C., Devries, S., Donner, E., Fitzgerald, M., Gardella, E., Hammer, M., Hegde, A., Hu, C., Kato, M., Luo, T., Schreiber, J. M., Wang, Y., Kooistra, T., Oudin, M., Waldrop, K. & Youngquist, J. T. & 3 others, Zhang, D., Wirrell, E. & Perry, M. S., Aug 2024, In: Epilepsia. 65, 8, p. 2308-2321

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

    Open Access
    File
    4 Downloads (Pure)

  • Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A-related epilepsy and/or neurodevelopmental disorders

    Conecker, G., Xia, M. Y., Hecker, J. E., Achkar, C., Cukiert, C., Devries, S., Donner, E., Fitzgerald, M. P., Gardella, E., Hammer, M., Hegde, A., Hu, C., Kato, M., Luo, T., Schreiber, J. M., Wang, Y., Kooistra, T., Oudin, M., Waldrop, K. & Youngquist, J. T. & 3 others, Zhang, D., Wirrell, E. & Perry, M. S., Aug 2024, In: Epilepsia. 65, 8, p. 2322-2338

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

    Open Access
    File
    4 Downloads (Pure)

  • Quantitative EEG biomarkers for STXBP1-related disorders

    Cossu, A., Furia, F., Proietti, J., Ancora, C., Reale, C., Darra, F., Previtali, R., Bernardina, B. D., Rubboli, G., Beniczky, S., Møller, R. S., Cantalupo, G. & Gardella, E., Dec 2024, In: Epilepsia. 65, 12, p. 3595-3606

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

    Open Access
    File
    7 Downloads (Pure)

  • Seizure provocation in EEG recordings: A data-driven approach

    Larsen, P. M., Wüstenhagen, S., Terney, D., Gardella, E., Aurlien, H. & Beniczky, S., Jun 2024, In: Epileptic Disorders. 26, 3, p. 322-331

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

    Open Access
    File
    3 Downloads (Pure)

  • Sleep disturbances in SCN8A-related disorders

    Furia, F., Johannesen, K. M., Bonardi, C. M., Previtali, R., Aledo-Serrano, A., Mastrangelo, M., Favaro, J., Masnada, S., di Micco, V., Proietti, J., Veggiotti, P., Rubboli, G., Cantalupo, G., Olofsson, K., Møller, R. S. & Gardella, E., Dec 2024, In: Epilepsia Open. 9, 6, p. 2186-2197

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

    Open Access
    File
    2 Downloads (Pure)

  • The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants

    Furia, F., Levy, A. M., Theunis, M., Bamshad, M. J., Bartos, M. N., Bijlsma, E. K., Brancati, F., Cejudo, L., Chong, J. X., De Luca, C., Dean, S. J., Egense, A., Goel, H., Guenzel, A. J., Hüffmeier, U., Legius, E., Mancini, G. M. S., Marcos-Alcalde, I., Niclass, T. & Planes, M. & 16 others, Redon, S., Ros-Pardo, D., Rouault, K., Schot, R., Schuhmann, S., Shen, J. J., Tao, A. M., Thiffault, I., Van Esch, H., Wentzensen, I. M., Barakat, T. S., Møller, R. S., Gomez-Puertas, P., Chung, W. K., Gardella, E. & Tümer, Z., Nov 2024, In: Clinical Genetics. 106, 5, p. 574-584

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

    Open Access
    File
    3 Downloads (Pure)
  • 2023

    Automated Interpretation of Clinical Electroencephalograms Using Artificial Intelligence

    Tveit, J., Aurlien, H., Plis, S., Calhoun, V. D., Tatum, W. O., Schomer, D. L., Arntsen, V., Cox, F., Fahoum, F., Gallentine, W. B., Gardella, E., Hahn, C. D., Husain, A. M., Kessler, S., Kural, M. A., Nascimento, F. A., Tankisi, H., Ulvin, L. B., Wennberg, R. & Beniczky, S., 1. Aug 2023, In: JAMA Neurology. 80, 8, p. 805-812

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

    Open Access

  • Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

    Lyu, H., Boßelmann, C. M., Johannesen, K. M., Koko, M., Ortigoza-Escobar, J. D., Aguilera-Albesa, S., Garcia-Navas Núñez, D., Linnankivi, T., Gaily, E., van Ruiten, H. J. A., Richardson, R., Betzler, C., Horvath, G., Brilstra, E., Geerdink, N., Orsucci, D., Tessa, A., Gardella, E., Fleszar, Z. & Schöls, L. & 3 others, Lerche, H., Møller, R. S. & Liu, Y., Dec 2023, In: EBioMedicine. 98, 15 p., 104855.

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

    Open Access
    File
    35 Downloads (Pure)

  • Duration of epileptic seizure types: A data-driven approach

    Meritam Larsen, P., Wüstenhagen, S., Terney, D., Gardella, E., Aurlien, H. & Beniczky, S., Feb 2023, In: Epilepsia. 64, 2, p. 469-478

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

    Open Access
    File
    51 Downloads (Pure)

  • Encephalopathy related to status epilepticus during slow sleep (ESES): Pathophysiological insights and nosological considerations

    Rubboli, G., Gardella, E., Cantalupo, G. & Alberto Tassinari, C., Mar 2023, In: Epilepsy & Behavior. 140, 5 p., 109105.

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

  • Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder

    Alvarez, C., Grimmel, M., Ebrahimi-Fakhari, D., Paul, V. G., Deininger, N., Riess, A., Haack, T., Gardella, E., Møller, R. S. & Bayat, A., May 2023, In: Clinical Genetics. 103, 5, p. 566-573

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

    Open Access
    File
    52 Downloads (Pure)

  • 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 journal › Journal article › Research › peer-review

    Open Access
    File
    79 Downloads (Pure)

  • 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, A., Rubboli, G., Tommerup, N., Dalla Bernardina, B., Møller, R. S., Cantalupo, G. & Gardella, E., Jun 2023, In: Neurological Sciences. 44, p. 2173-2176

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

  • SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy

    Roshandel, D., Sanders, E. J., Shakeshaft, A., Panjwani, N., Lin, F., Collingwood, A., Hall, A., Keenan, K., Deneubourg, C., Mirabella, F., Topp, S., Zarubova, J., Thomas, R. H., Talvik, I., Syvertsen, M., Striano, P., Smith, A. B., Selmer, K. K., Rubboli, G. & Orsini, A. & 179 others, Ng, C. C., Møller, R. S., Lim, K. S., Hamandi, K., Greenberg, D. A., Gesche, J., Gardella, E., Fong, C. Y., Beier, C. P., Andrade, D. M., Jungbluth, H., Richardson, M. P., Pastore, A., Fanto, M., Pal, D. K., Strug, L. J., Šobíšková, Z., Pracoviste, C., Kajsova, M., Miranda, M., Bala, P., Kitching, A., Irwin, K., Walding, L., Adams, L., Jegathasan, U., Swingler, R., Wane, R., Aram, J., Sudarsan, N., Mullan, D., Ramsay, R., Richmond, V., Sargent, M., Frattaroli, P., Taylor, M., Home, M., Uka, S., Kilroy, S., Nortcliffe, T., Salim, H., Holroyd, K., McQueen, A., Mcaleer, D., Jayachandran, D., Egginton, D., MacDonald, B., Chang, M., Deekollu, D., Gaurav, A., Hamilton, C., Natarajan, J., Takon, I., Cotta, J., Moran, N., Bland, J., Belderbos, R., Collier, H., Henry, J., Milner, M., White, S., Koutroumanidis, M., Stern, W., Quirk, J., Ceballos, J. P., Papathanasiou, A., Stavropoulos, I., Lozsadi, D., Swain, A., Quamina, C., Crooks, J., Majeed, T., Raj, S., Patel, S., Young, M., Maguire, M., Ray, M., Peacey, C., Makawa, L., Chhibda, A., Sacre, E., Begum, S., O’ Malley, M., Yeung, L., Holliday, C., Woodhead, L., Rhodes, K., Ellawela, S., Glenton, J., Calder, V., Davis, J., McAlinden, P., Francis, S., Robson, L., Lanyon, K., Mackay, G., Stephen, E., Thow, C., Connon, M., Kirkpatrick, M., MacFarlane, S., Macleod, A., Rice, D., Kumar, S., Campbell, C., Collins, V., Whitehouse, W., Giavasi, C., Petrova, B., Brown, T., Picton, C., O’Donoghue, M., West, C., Navarra, H., Slaght, S. J., Edwards, C., Gribbin, A., Nelson, L., Warriner, S., Angus-Leppan, H., Ehiorobo, L., Camara, B., Samakomva, T., Mohanraj, R., Parker, V., Pandey, R., Charles, L., Cotter, C., Desurkar, A., Hyde, A., Harrison, R., Reuber, M., Clegg, R., Sidebottom, J., Recto, M., Easton, P., Waite, C., Howell, A., Smith, J., Mariguddi, S., Haslam, Z., Galizia, E., Cock, H., Mencias, M., Truscott, S., Daly, D., Mhandu, H., Said, N., Rees, M., Chung, S.-K., Pickrell, O., Fonferko-Shadrach, B., Baker, M., Scott, F., Ghaus, N., Castle, G., Bartholomew, J., Needle, A., Ball, J., Clough, A., Sastry, S., Busby, C., Agrawal, A., Dickerson, D., Duran, A., Khan, M., Thrasyvoulou, L., Irvine, E., Tittensor, S., Daglish, J., Kumar, S., Backhouse, C., Mewies, C., Skinner, D., Bharat, R., Sharman, S.-J., Saraswatula, A., Cockerill, H. & Consortium, T. B., Sept 2023, In: npj Genomic Medicine. 8, 11 p., 28.

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

    Open Access
    File
    23 Downloads (Pure)

  • 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, G., Ahring, P. & Møller, R. S., Aug 2023, In: Annals of Clinical and Translational Neurology. 10, 8, p. 1493-1498

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

    Open Access
    File
    106 Downloads (Pure)
  • 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 others, Furia, 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 journal › Journal article › Research › peer-review

    Open Access
    File
    138 Downloads (Pure)

  • De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivity

    Johannesen, K. M., Gardella, E., Ahring, P. K. & Møller, R. S., Oct 2022, In: European Journal of Medical Genetics. 65, 10, 5 p., 104577.

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

  • EEG normal variants: A prospective study using the SCORE system

    Wüstenhagen, S., Terney, D., Gardella, E., Meritam Larsen, P., Rømer, C., Aurlien, H. & Beniczky, S., Jul 2022, In: Clinical Neurophysiology Practice. 7, p. 183-200

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

    Open Access
    File
    292 Downloads (Pure)

  • Effect of fenfluramine on seizures and comorbidities in SCN8A-developmental and epileptic encephalopathy: A case series

    Aledo-Serrano, Á., Cabal-Paz, B., Gardella, E., Gómez-Porro, P., Martínez-Múgica, O., Beltrán-Corbellini, A., Toledano, R., García-Morales, I. & Gil-Nagel, A., Sept 2022, In: Epilepsia Open. 7, 3, p. 525-531

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

    Open Access
    File
    235 Downloads (Pure)

  • Epilepsy in neurodegenerative diseases

    Neri, S., Mastroianni, G., Gardella, E., Aguglia, U. & Rubboli, G., Apr 2022, In: Epileptic Disorders. 24, 2, p. 249-273

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

    Open Access
    File
    197 Downloads (Pure)

  • Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

    Absalom, N. L., Liao, V. W. Y., Johannesen, K. M. H., Gardella, E., Jacobs, J., Lesca, G., Gokce-Samar, Z., Arzimanoglou, A., Zeidler, S., Striano, P., Meyer, P., Benkel-Herrenbrueck, I., Mero, I. L., Rummel, J., Chebib, M., Møller, R. S. & Ahring, P. K., 5. Apr 2022, In: Nature Communications. 13, 15 p., 1822.

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

    Open Access
    File
    61 Downloads (Pure)

  • Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy

    Ahring, P. K., Liao, V. W. Y., Gardella, E., Johannesen, K. M., Krey, I., Selmer, K. K., Stadheim, B. F., Davis, H., Peinhardt, C., Koko, M., Coorg, R. K., Syrbe, S., Bertsche, A., Santiago-Sim, T., Diemer, T., Fenger, C. D., Platzer, K., Eichler, E. E., Lerche, H. & Lemke, J. R. & 2 others, Chebib, M. & Møller, R. S., 24. May 2022, In: Brain. 145, 4, p. 1299-1309

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

    Open Access

  • 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. & 108 others, Sterbova, K., Lassuthová, P., Vlckova, M., Lemke, J. R., Platzer, K., Krey, I., Heine, C., Wieczorek, D., Kroell-Seger, J., Lund, C., Klein, K. M., Billie Au, P. Y., Rho, J. M., Ho, A. W., Masnada, S., Veggiotti, P., Giordano, L., Accorsi, P., Hoei-Hansen, C. E., Striano, P., Zara, F., Verhelst, H., Verhoeven, J. S., van der Zwaag, B., Harder, A. V. E., Brilstra, E., Pendziwiat, M., Lebon, S., Vaccarezza, M., Minh Le, N., Christensen, J., Grønborg, S., Scherer, S. W., Howe, J., Fazeli, W., Howell, K. B., Leventer, R., Stutterd, C., Walsh, S., Gerard, M., Gerard, B., Matricardi, S., Bonardi, C. M., Sartori, S., Berger, A., Hoffman-Zacharska, D., Mastrangelo, M., Darra, F., Vøllo, A., Motazacker, M. M., Lakeman, P., Nizon, M., Betzler, C., Altuzarra, C., Caume, R., Roubertie, A., Gélisse, P., Marini, C., Guerrini, R., Bilan, F., Tibussek, D., Koch-Hogrebe, M., Perry, M. S., Ichikawa, S., Dadali, E., Sharkov, A., Mishina, I., Abramov, M., Kanivets, I., Korostelev, S., Kutsev, S., Wain, K. E., Eisenhauer, N., Wagner, M., Savatt, J. M., Müller-Schlüter, K., Bassan, H., Borovikov, A., Nassogne, M.-C., Destrée, A., Schoonjans, A.-S., Meuwissen, M., Buzatu, M., Jansen, A., Scalais, E., Srivastava, S., Tan, W.-H., Olson, H. E., Loddenkemper, T., Poduri, A., Helbig, K. L., Helbig, I., Fitzgerald, M. P., Goldberg, E. M., Roser, T., Borggraefe, I., Brünger, T., May, P., Lal, D., Lederer, D., Rubboli, G., Heyne, H. O., Lesca, G., Hedrich, U. B. S., Benda, J., Gardella, E., Lerche, H. & Møller, R. S., Sept 2022, In: Brain. 145, 9, p. 2991-3009

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

    Open Access
    File
    141 Downloads (Pure)

  • 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 others, Lewis-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 journal › Journal article › Research › peer-review

    Open Access
    File
    66 Downloads (Pure)

  • Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study

    Bayat, A., Aledo-Serrano, A., Gil-Nagel, A., Korff, C. M., Thomas, A., Boßelmann, C., Weber, Y., Gardella, E., Lund, A., de Sain-van der Velden, M. G. M. & Møller, R. S., Jun 2022, In: Developmental Medicine and Child Neurology. 64, 6, p. 789-798

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

  • 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., 21. Feb 2022, In: Scientific Reports. 12, 2785.

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

    Open Access
    File
    38 Downloads (Pure)

  • Structural mapping of GABRB3 variants reveals genotype–phenotype correlations

    Johannesen, K. M., Iqbal, S., Guazzi, M., Mohammadi, N. A., Pérez-Palma, E., Schaefer, E., De Saint Martin, A., Abiwarde, M. T., McTague, A., Pons, R., Piton, A., Kurian, M. A., Ambegaonkar, G., Firth, H., Sanchis-Juan, A., Deprez, M., Jansen, K., De Waele, L., Briltra, E. H. & Verbeek, N. E. & 27 others, van Kempen, M., Fazeli, W., Striano, P., Zara, F., Visser, G., Braakman, H. M. H., Haeusler, M., Elbracht, M., Vaher, U., Smol, T., Lemke, J. R., Platzer, K., Kennedy, J., Klein, K. M., Au, P. Y. B., Smyth, K., Kaplan, J., Thomas, M., Dewenter, M. K., Dinopoulos, A., Campbell, A. J., Lal, D., Lederer, D., Liao, V. W. Y., Ahring, P. K., Møller, R. S. & Gardella, E., Mar 2022, In: Genetics in Medicine. 24, 3, p. 681-693

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

  • The Relationship Between Valproate and Lamotrigine/Levetiracetam Use and Prognosis in Patients With Epilepsy and Heart Failure: A Danish Register-Based Study

    Liang, D., Gardella, E., Kragholm, K., Polcwiartek, C. & Sessa, M., Apr 2022, In: Journal of Cardiac Failure. 28, 4, p. 630-638

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

    Open Access
    File
    104 Downloads (Pure)

  • 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., Møller, R. S. & Rubboli, G., 1. Jun 2022, In: Epileptic Disorders. 24, 3, p. 577-582 6 p.

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

  • 2021

    Cognitive tasks as provocation methods in routine EEG: a multicentre field study

    Braga, P., Mameniskiené, R., Guaranha, M., Zeissig, E. V., Samaitienė, R., Özcelik, E. U., Bogacz, A., Lin, K., Gardella, E., Yacubian, E. M., Baykan, B., Legnani, M., Beniczky, S., Navickiene, E., Jasionis, A., Lunardi, M., Falco, G. & Wolf, P., Feb 2021, In: Epileptic Disorders. 23, 1, p. 123-132

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

  • Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

    Raviglione, F., Douzgou, S., Scala, M., Mingarelli, A., D'Arrigo, S., Freri, E., Darra, F., Giglio, S., Bonaglia, M. C., Pantaleoni, C., Mastrangelo, M., Epifanio, R., Elia, M., Saletti, V., Morlino, S., Vari, M. S., De Liso, P., Pavaine, J., Spaccini, L. & Cattaneo, E. & 26 others, Gardella, E., Møller, R. S., Marchese, F., Colonna, C., Gandioli, C., Gobbi, G., Ram, D., Palumbo, O., Carella, M., Germano, M., Tonduti, D., De Angelis, D., Caputo, D., Bergonzini, P., Novara, F., Zuffardi, O., Verrotti, A., Orsini, A., Bonuccelli, A., De Muto, M. C., Trivisano, M., Vigevano, F., Granata, T., Bernardina, B. D., Tranchina, A. & Striano, P., May 2021, In: Seizure. 88, p. 60-72

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

  • 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, Ceulemans, B., Sarret, C., Baumgartner, T., Muhle, H., des Portes, V., Toulouse, J., Nougues, M.-C., Rossi, M., Demarquay, G., Ville, D., Hirsch, E., Maurey, H., Willems, M., de Bellescize, J., Altuzarra, C. D., Villeneuve, N., Bartolomei, F., Picard, F., Hornemann, F., Koolen, D. A., Kroes, H. Y., Reale, C., Fenger, C. D., Tan, W.-H., Dibbens, L., Bearden, D. R., Møller, R. S. & Rubboli, G., 8. Dec 2021, In: Brain. 144, 12, p. 3635-3650

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

    Open Access
    File
    113 Downloads (Pure)

  • Modulation in time of the interictal spiking pattern related to epileptic seizures

    Arbune, A. A., Meritam Larsen, P., Wüstenhagen, S., Terney, D., Gardella, E. & Beniczky, S., May 2021, In: Clinical Neurophysiology. 132, 5, p. 1083-1088

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

  • NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

    Stamberger, H., Hammer, T. B., Gardella, E., Vlaskamp, D. R. M., Bertelsen, B., Mandelstam, S., de Lange, I., Zhang, J., Myers, C. T., Fenger, C., Afawi, Z., Almanza Fuerte, E. P., Andrade, D. M., Balcik, Y., Ben Zeev, B., Bennett, M. F., Berkovic, S. F., Isidor, B., Bouman, A. & Brilstra, E. & 65 others, Busk, Ø. L., Cairns, A., Caumes, R., Chatron, N., Dale, R. C., de Geus, C., Edery, P., Gill, D., Granild-Jensen, J. B., Gunderson, L., Gunning, B., Heimer, G., Helle, J. R., Hildebrand, M. S., Hollingsworth, G., Kharytonov, V., Klee, E. W., Koeleman, B. P. C., Koolen, D. A., Korff, C., Küry, S., Lesca, G., Lev, D., Leventer, R. J., Mackay, M. T., Macke, E. L., McEntagart, M., Mohammad, S. S., Monin, P., Montomoli, M., Morava, E., Moutton, S., Muir, A. M., Parrini, E., Procopis, P., Ranza, E., Reed, L., Reif, P. S., Rosenow, F., Rossi, M., Sadleir, L. G., Sadoway, T., Schelhaas, H. J., Schneider, A. L., Shah, K., Shalev, R., Sisodiya, S. M., Smol, T., Stumpel, C. T. R. M., Stuurman, K., Symonds, J. D., Mau-Them, F. T., Verbeek, N., Verhoeven, J. S., Wallace, G., Yosovich, K., Zarate, Y. A., Zerem, A., Zuberi, S. M., Guerrini, R., Mefford, H. C., Patel, C., Zhang, Y. H., Møller, R. S. & Scheffer, I. E., Feb 2021, In: Genetics in Medicine. 23, 2, p. 363-373

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

  • Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

    Glinton, K. E., Hurst, A. C. E., Bowling, K. M., Cristian, I., Haynes, D., Adstamongkonkul, D., Schnappauf, O., Beck, D. B., Brewer, C., Parikh, A. S., Shinde, D. N., Donaldson, A., Brautbar, A., Koene, S., van Haeringen, A., Piton, A., Capri, Y., Furlan, M., Gardella, E. & Møller, R. S. & 28 others, van de Beek, I., Zuurbier, L., Lakeman, P., Bayat, A., Martinez, J., Signer, R., Torring, P. M., Engelund, M. B., Gripp, K. W., Amlie-Wolf, L., Henderson, L. B., Midro, A. T., Tarasów, E., Stasiewicz-Jarocka, B., Moskal-Jasinska, D., Vos, P., Boschann, F., Stoltenburg, C., Puk, O., Mero, I. L., Lossius, K., Mignot, C., Keren, B., Acosta Guio, J. C., Briceño, I., Gomez, A., Yang, Y. & Stankiewicz, P., May 2021, In: American Journal of Medical Genetics Part A. 185, 5, p. 1366-1378

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

    Open Access
    File
    304 Downloads (Pure)

  • Photoparoxysmal response and its characteristics in a large EEG database using the SCORE system

    Meritam Larsen, P., Wüstenhagen, S., Terney, D., Gardella, E., Alving, J., Aurlien, H. & Beniczky, S., Feb 2021, In: Clinical Neurophysiology. 132, 2, p. 365-371

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

  • 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. & 31 others, Esser, M. J., Appendino, J. P., Al-Hertani, W., Gamboni, B., Mampel, A., Mayorga, L., Orsini, A., Bonuccelli, A., Suppiej, A., Van-Gils, J., Vogt, J., Damioli, S., Giordano, L., Moortgat, S., Wirrell, E., Hicks, S., Kini, U., Noble, N., Stewart, H., Asakar, S., Cohen, J. S., Naidu, S. B. R., Collier, A., Brilstra, E. H., Li, M. H., Brew, C., Bigoni, S., Ognibene, D., Møller, R. S., Rubboli, G. & PURA study group, 15. Dec 2021, In: Neurology: Genetics. 7, 6, 15 p., e613.

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

    Open Access
    File
    59 Downloads (Pure)