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  • 2024

    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 othersTjoa, 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 journalJournal articleResearchpeer-review

  • 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 journalJournal articleResearchpeer-review

  • 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 othersLerche, H., Møller, R. S. & Liu, Y., Dec 2023, In: EBioMedicine. 98, 15 p., 104855.

    Research output: Contribution to journalJournal articleResearchpeer-review

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  • 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

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  • 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 journalJournal articleResearchpeer-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 journalJournal articleResearchpeer-review

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  • 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

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  • 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 journalJournal articleResearchpeer-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 othersNg, 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. BIOJUME., Sept 2023, In: npj Genomic Medicine. 8, 11 p., 28.

    Research output: Contribution to journalJournal articleResearchpeer-review

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  • 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 journalJournal articleResearchpeer-review

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  • 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 othersFuria, 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 journalJournal articleResearchpeer-review

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  • 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 journalJournal articleResearchpeer-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

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  • 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

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  • 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 journalJournal articleResearchpeer-review

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  • 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 journalJournal articleResearchpeer-review

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  • 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 othersChebib, M. & Møller, R. S., 24. May 2022, In: Brain. 145, 4, p. 1299-1309

    Research output: Contribution to journalJournal articleResearchpeer-review

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  • 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 othersSterbova, 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 journalJournal articleResearchpeer-review

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  • 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 othersLewis-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 journalJournal articleResearchpeer-review

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  • 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, AM., 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 journalJournal articleResearchpeer-review

  • Reply: Genotype-phenotype correlations in SCN8A-related epilepsy: a cohort study of Chinese children in southern China

    Johannesen, K. M., Liu, Y., Gardella, E., Lerche, H. & Møller, R. S., Apr 2022, In: Brain. 145, 4, p. e28-e30

    Research output: Contribution to journalComment/debateResearchpeer-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 othersStriano, 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 journalJournal articleResearchpeer-review

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  • Structural mapping of GABRB3 variants reveal correlations between genotype and phenotype

    Johannesen, K. M., Iqbal, S., Guazzi, M., Mohammadi, N. A., Perez, E., Lal, D., Schaefer, E., De Saint Martin, A., Abiwarde, M. T., McTague, A., Pons, R., Piton, A., Kurian, M., Deprez, M., de Waele, L., Brilstra, E., Verbeek, N. E., van Kempen, M. V. K., Visser, G., Braakman, H. M. H., & 20 othersHaeusler, M., Elbracht, M., Sternman, D., Haeusler, M., Elbracht, M., Sternman, D., Vaher, U., Smol, T., Kennedy, J., Klein, K. M., Au, B., Smyth, K., Morgan, T., Dewenter, M., Dinopoulos, A., Lederer, D., Liao, V., Ahring, P. K., Moller, R. S. & Gardella, E., 1. Apr 2022, In: European Journal of Human Genetics. 30, Suppl. 1, p. 278-279

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • 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 othersvan 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 journalJournal articleResearchpeer-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 journalJournal articleResearchpeer-review

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  • 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 : international epilepsy journal with videotape. 24, 3, p. 577-582

    Research output: Contribution to journalJournal articleResearchpeer-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 journalJournal articleResearchpeer-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 othersGardella, 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 journalJournal articleResearchpeer-review

  • Expanding the phenotypic and genetic CUX2 spectrum

    Furlan, M., Lesca, G., Carvill, G. L., Hammer, T. B., Schneider, A., Aledo-Serrano, A., Romano, C., Borresen, M. L., Scheffer, I., Giorgi, L., MIchaud, V., Raclet, V., Bracher, L., Aronsson, J., Maurey, H., Bouilleret, V., Kuchler, A., Parisi, P., Moeller, R. S. & Gardella, E., 1. Nov 2021, In: Epilepsia. 62, Suppl. 3, p. 217-218 2 p.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

    Johannesen, K. M., Liu, Y., Gjerulfsen, C. E., Koko, M., Sonnenberg, L., Schubert, J., Fenger, C. D., Eltokhi, A., Rannap, M., Koch, N., Lauxmann, S., Krueger, J., Kegele, J., Canafoglia, L., Franceschetti, S., Mayer, T., Rebstock, J., Zacher, P., Ruf, S., Alber, M., & 106 othersSterbova, K., Lassuthova, P., Vlckova, M., Lemke, J., Krey, I., Heine, C., Wieczorek, D., Kroell, J., Lund, C., Klein, K. M., Au, P. B., Rho, J., Ho, A., Masnada, S., Veggiotti, P., Giordano, L., Accorsi, P., Hoi-Hansen, C., Striano, P., Zara, F., Verhelst, H., Verhoeven, J. S., van der Zwaag, B., Harder, A., Brilstra, E., Pendziwiat, M., Lebon, S., Vaccarezza, M., Le, N. M., Christensen, J., Schmidt-Petersen, M., Gronborg, S., Scherer, S., Howe, J., Fazeli, W., Howell, K., 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., Vollo, A., Motazacker, M. M., Lakeman, P., Nizon, M., Betzler, C., Altuzarra, C., Caumes, R., Roubertie, A., Gelisse, P., Marini, C., Guerrini, R., Bilan, F., Koch-Hogrebe, M., Perry, 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., Mueller-Schlueter, K., Bassan, H., Borovikov, A., Nassogne, M-C., Destree, A., Schoonjans, A-S., Meuwissen, M., Buzatu, M., Jansen, A., Scalais, E., Srivastava, S., Tan, W-H., Olson, H., Loddenkemper, T., Poduri, A., Helbig, K. L., Helbig, I., Fitzgerald, M., Goldberg, E. M., Roser, T., Borggrafe, I., Brunger, T., May, P., Lal, D., Lederer, D., Rubboli, G., Lesca, G., Hedrich, U., Benda, J., Gardella, E., Lerche, H. & Moeller, R. S., Nov 2021, In: Epilepsia. 62, Suppl. 3, p. 34-36 80.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • Ictal positive facial expression of emotion

    Craciun, L., Gardella, E., Terney, D., Meritam, P., Rubboli, G. & Beniczky, S., 3. Nov 2021, In: Epilepsia. 62, Suppl. 3, p. 66 1 p.

    Research output: Contribution to journalConference abstract in journalResearchpeer-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 othersCeulemans, 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 journalJournal articleResearchpeer-review

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  • 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 journalJournal articleResearchpeer-review

  • Motor Manifestations in Epileptic Photosensitivity: Clinical Features and Pathophysiological Insights

    Rubboli, G., Gardella, E. & Meletti, S., 2021, The Importance of Photosensitivity for Epilepsy. Trenite, D. K-N. (ed.). Springer, p. 185-197

    Research output: Chapter in Book/Report/Conference proceedingBook chapterResearchpeer-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 othersBusk, 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 journalJournal articleResearchpeer-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 othersvan 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 journalJournal articleResearchpeer-review

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  • 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 journalJournal articleResearchpeer-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 othersEsser, 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 journalJournal articleResearchpeer-review

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  • Sleep problems in patients with SCN8A epilepsy

    Furia, F., Johannesen, K. M., Bonardi, C. M., Savoie, H., Scarcelli, C., Waegner, R., Clay, B., Moeller, R. S. & Gardella, E., 3. Nov 2021, In: Epilepsia. 62, Suppl. 3, p. 221 1 p.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG

    Houtman, S. J., Lammertse, H. C. A., van Berkel, A. A., Balagura, G., Gardella, E., Ramautar, J. R., Reale, C., Møller, R. S., Zara, F., Striano, P., Misra-Isrie, M., van Haelst, M. M., Engelen, M., van Zuijen, T. L., Mansvelder, H. D., Verhage, M., Bruining, H. & Linkenkaer-Hansen, K., 23. Dec 2021, In: Frontiers in Physiology. 12, 775172.

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  • The Biology of Juvenile Myoclonic Epilepsy (BIOJUME) consortium: Revealing a sex difference in the influence of precipitants on seizure prognosis

    Shakeshaft, A., Panjwani, N., Crudgington, H., McDowall, R., Andrade, D., Beier, C., Fong, C. Y., Gardella, E., Gesche, J., Greenberg, D. A., Hamandi, K., Koht, J., Lim, K. S., Moeller, R. S., Ng, C. C., Orsini, A., Pratico, A., Rees, M. I., Rubboli, G., Selmer, K. K., & 8 othersSmith, A., Striano, P., Syvertsen, M., Thomas, R. H., Zarubova, J., Richardson, M., Strug, L. & Pal, D., Nov 2021, In: Epilepsia. 62, Suppl. 3, p. 359-360 1 p., 522.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • The KCNB1 phenotypic and genetic spectrum

    Reale, C., Fenger, C. D., Neu, A., Sukno, S., McKeown, S., Borovikov, A., Gorman, K., Trivisano, M., Lo Barco, T., Krey, I., Navarro, I. M. M., La Selva, L., Bayat, A., Bijlsma, E. K., Rokkjaer, M., Borggrafe, I., Sauders, C. J., Yis, U., Ram, D., Bierhals, T., & 39 othersFrancannet, C., Bonardi, C. M., Goldenberg, A., Dadali, E., Green, A., Cohen, R., Muhle, H., Beniczky, S., Massingham, L., Fusco, C., Specchio, N., Allen, N. M., Cantalupo, G., Sharkov, A., Helbig, I., Gerard, B., Lessel, D., Rubboli, G., Moeller, R. S., Gardella, E., McKeowns, S., Furia, F., Afawi, Z., Bernardina, B. D., Campbell, W., Fiedler, B., Fontana, E., Hall, A. S., Hoi-Hansen, C., Klein, K. M., King, M., Lynch, B., Lemke, J., Gaudda, A., Nikanorova, M., Rahner, M., Spagnoli, C., Banka, S. & Pendziwiat, M., Nov 2021, In: Epilepsia. 62, Suppl. 3, p. 222-223 2 p.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • The natural history of SCN8A epilepsy and realted diseases

    Gardella, E., Furia, F., Johannesen, K. M., Moeller, R. S. & SCN8A study group , Nov 2021, In: Epilepsia. 62, Suppl. 3, p. 28-29 2 p.

    Research output: Contribution to journalConference abstract in journalResearchpeer-review

  • 2020

    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

  • Lessons learned from 40 novel PIGA patients and a review of the literature

    Bayat, A., Knaus, A., Pendziwiat, M., Afenjar, A., Stefan Barakat, T., Bosch, F., Callewaert, B., Calvas, P., Ceulemans, B., Chassaing, N., Depienne, C., Endziniene, M., Ferreira, C. R., Moura de Souza, C. F., Freihuber, C., Ganesan, S., Gataullina, S., Guerrini, R., Guerrot, A-M., Hansen, L., & 34 othersJezela-Stanek, A., Karsenty, C., Kievit, A., Kooy, F. R., Korff, C. M., Kragh Hansen, J., Larsen, M., Layet, V., Lesca, G., McBride, K. L., Meuwissen, M., Mignot, C., Montomoli, M., Moore, H., Naudion, S., Nava, C., Nougues, M-C., Parrini, E., Pastore, M., Schelhaas, J. H., Skinner, S., Szczałuba, K., Thomas, A., Thomassen, M., Tranebjaerg, L., van Slegtenhorst, M., Wolfe, L. A., Lal, D., Gardella, E., Bomme Ousager, L., Brünger, T., Helbig, I., Krawitz, P. & Møller, R. S., Jun 2020, In: Epilepsia. 61, 6, p. 1142-1155

    Research output: Contribution to journalJournal articleResearchpeer-review

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  • 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 othersRaymond, 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

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  • 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 journalJournal articleResearchpeer-review

  • 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., Nov 2019, In: Epilepsia. 60, 11, p. 2277-2285

    Research output: Contribution to journalJournal articleResearchpeer-review

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  • Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

    Mignot, C., McMahon, A. C., Bar, C., Campeau, P. M., Davidson, C., Buratti, J., Nava, C., Jacquemont, M. L., Tallot, M., Milh, M., Edery, P., Marzin, P., Barcia, G., Barnerias, C., Besmond, C., Bienvenu, T., Bruel, A. L., Brunga, L., Ceulemans, B., Coubes, C., & 66 othersCristancho, A. G., Cunningham, F., Dehouck, M. B., Donner, E. J., Duban-Bedu, B., Dubourg, C., Gardella, E., Gauthier, J., Geneviève, D., Gobin-Limballe, S., Goldberg, E. M., Hagebeuk, E., Hamdan, F. F., Hančárová, M., Hubert, L., Ioos, C., Ichikawa, S., Janssens, S., Journel, H., Kaminska, A., Keren, B., Koopmans, M., Lacoste, C., Laššuthová, P., Lederer, D., Lehalle, D., Marjanovic, D., Métreau, J., Michaud, J. L., Miller, K., Minassian, B. A., Morales, J., Moutard, M. L., Munnich, A., Ortiz-Gonzalez, X. R., Pinard, J. M., Prchalová, D., Putoux, A., Quelin, C., Rosen, A. R., Roume, J., Rossignol, E., Simon, M. E. H., Smol, T., Shur, N., Shelihan, I., Štěrbová, K., Vyhnálková, E., Vilain, C., Soblet, J., Smits, G., Yang, S. P., van der Smagt, J. J., van Hasselt, P. M., van Kempen, M., Weckhuysen, S., Helbig, I., Villard, L., Héron, D., Koeleman, B., Møller, R. S., Lesca, G., Helbig, K. L., Nabbout, R., Verbeek, N. E. & Depienne, C., Aug 2019, In: Genetics in Medicine. 21, 8, p. 1897-1898

    Research output: Contribution to journalComment/debateResearchpeer-review

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  • Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

    Johannesen, K. M., Mitter, D., Janowski, R., Roth, C., Toulouse, J., Poulat, A-L., Ville, D. M., Chatron, N., Brilstra, E., Geleijns, K., Born, A. P., McLean, S., Nugent, K., Baynam, G., Poulton, C., Dreyer, L., Gration, D., Schulz, S., Dieckmann, A., Helbig, K. L., & 18 othersMerkenschlager, A., Jamra, R., Finck, A., Gardella, E., Hjalgrim, H., Mirzaa, G., Brancati, F., Bierhals, T., Denecke, J., Hempel, M., Lemke, J. R., Rubboli, G., Muschke, P., Guerrini, R., Vetro, A., Niessing, D., Lesca, G. & Møller, R. S., Dec 2019, In: Neurology: Genetics. 5, 6, p. e373

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