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  • 2022

    Adult phenotype of KCNQ2 encephalopathy

    Boets, S., Johannesen, K. M., Destree, A., Manti, F., Ramantani, G., Lesca, G., Vercueil, L., Koenig, M. K., Striano, P., Møller, R. S., Cooper, E. & Weckhuysen, S., Jun 2022, In: Journal of Medical Genetics. 59, 6, p. 528-535 107449.

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  • 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

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  • Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

    Christensen, M. B., Levy, A. M., Mohammadi, N. A., Niceta, M., Kaiyrzhanov, R., Dentici, M. L., Al Alam, C., Alesi, V., Benoit, V., Bhatia, K. P., Bierhals, T., Boßelmann, C. M., Buratti, J., Callewaert, B., Ceulemans, B., Charles, P., De Wachter, M., Dehghani, M., D'haenens, E., Doco-Fenzy, M., & 37 othersGeßner, M., Gobert, C., Guliyeva, U., Haack, T. B., Hammer, T. B., Heinrich, T., Hempel, M., Herget, T., Hoffmann, U., Horvath, J., Houlden, H., Keren, B., Kresge, C., Kumps, C., Lederer, D., Lermine, A., Magrinelli, F., Maroofian, R., Vahidi Mehrjardi, M. Y., Moudi, M., Müller, A. J., Oostra, A. J., Pletcher, B. A., Ros-Pardo, D., Samarasekera, S., Tartaglia, M., Van Schil, K., Vogt, J., Wassmer, E., Winkelmann, J., Zaki, M. S., Zech, M., Lerche, H., Radio, F. C., Gomez-Puertas, P., Møller, R. S. & Tümer, Z., Aug 2022, In: Clinical Genetics. 102, 2, p. 98-109

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  • Current practice in diagnostic genetic testing of the epilepsies

    Krey, I., Platzer, K., Esterhuizen, A., Berkovic, S. F., Helbig, I., Hildebrand, M. S., Lerche, H., Lowenstein, D., Møller, R. S., Poduri, A., Sadleir, L., Sisodiya, S. M., Weckhuysen, S., Wilmshurst, J. M., Weber, Y. & Lemke, J. R., Oct 2022, In: Epileptic Disorders. 24, 5, p. 765-786

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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.

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  • Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies

    Brunklaus, A., Pérez-Palma, E., Ghanty, I., Xinge, J., Brilstra, E., Ceulemans, B., Chemaly, N., de Lange, I., Depienne, C., Guerrini, R., Mei, D., Møller, R. S., Nabbout, R., Regan, B. M., Schneider, A. L., Scheffer, I. E., Schoonjans, A. S., Symonds, J. D., Weckhuysen, S., Kattan, M. W., & 2 othersZuberi, S. M. & Lal, D., 15. Mar 2022, In: Neurology. 98, 11, p. e1163-e1174

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  • Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2 -Associated Infantile Epilepsy

    the PRRT2-Study-Group, Oct 2022, In: Neurology: Genetics. 8, 5, 11 p., e200020.

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  • Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies

    Beltrán-Corbellini, Á., Aledo-Serrano, Á., Møller, R. S., Pérez-Palma, E., García-Morales, I., Toledano, R. & Gil-Nagel, A., 17. Feb 2022, In: Frontiers in Neurology. 13, 12 p., 777115.

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  • Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes

    Neri, S., Maia, N., Fortuna, A. M., Damasio, J., Coale, E., Willis, M., Jorge, P., Højte, A. F., Fenger, C. D., Møller, R. S. & Bayat, A., Nov 2022, In: European Journal of Medical Genetics. 65, 11, 7 p., 104624.

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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.

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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 : a journal of neurology. 145, 4, p. 1299-1309

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  • Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy

    Amadori, E., Pellino, G., Bansal, L., Mazzone, S., Møller, R. S., Rubboli, G., Striano, P. & Russo, A., Apr 2022, In: European Journal of Medical Genetics. 65, 4, 14 p., 104450.

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  • Genetikken fremmer individualiseret behandling af epilepsi

    Translated title of the contribution: Genetic factors provide individualised targeted treatment of epilepsyJohannesen, K. M. H., Bayat, A., Hammer, T. B. & Møller, R. S., 27. Jun 2022, In: Ugeskrift for Laeger. 184, 13, V02220122.

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  • Genetisk udredning ved autismespektrumforstyrrelse

    Translated title of the contribution: Genetic testing in autism spectrum disorderMajgaard Jensen, J., Schierup Nielsen, U., Bayat, A., Bøgehus Rasmussen, M., Møller, R. S., Bisgaard, A-M. & Hammer, T. B., 22. Aug 2022, (E-pub ahead of print) In: Ugeskrift for Laeger. V04220253.

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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., Sep 2022, In: Brain : a journal of neurology. 145, 9, p. 2991-3009

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  • 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, T. F., Rubboli, G., Møller, R. S. & group, D. C. C. R. S., Jul 2022, In: Neurotherapeutics. 19, p. 1353-1367

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  • Incidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark

    Møller, R. S., Zhao, L., Shoaff, J. R., Duno, M., Andersen, B. N., Nguyen, V., Fang, T. C., Kupelian, V. & Thorén, R., Dec 2022, In: Molecular Genetics and Metabolism Reports. 33, 6 p., 100924.

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  • KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

    Miceli, F., Millevert, C., Soldovieri, M. V., Mosca, I., Ambrosino, P., Carotenuto, L., Schrader, D., Lee, H. K., Riviello, J., Hong, W., Risen, S., Emrick, L., Amin, H., Ville, D., Edery, P., de Bellescize, J., Michaud, V., Van-Gils, J., Goizet, C., Willemsen, M. H., & 14 othersKleefstra, T., Møller, R. S., Bayat, A., Devinsky, O., Sands, T., Korenke, G. C., Kluger, G., Mefford, H. C., Brilstra, E., Lesca, G., Milh, M., Cooper, E. C., Taglialatela, M. & Weckhuysen, S., Jul 2022, In: EBioMedicine. 81, 15 p., 104130.

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  • L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants

    Krey, I., von Spiczak, S., Johannesen, K. M., Hikel, C., Kurlemann, G., Muhle, H., Beysen, D., Dietel, T., Møller, R. S., Lemke, J. R. & Syrbe, S., Jan 2022, In: Neurotherapeutics. 19, p. 334-341

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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.

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  • Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

    DDD Study, Undiagnosed Diseases Network & ATP6V1A collaborators, 27. Aug 2022, In: Brain : a journal of neurology. 145, 8, p. 2687-2703

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  • PIGN encephalopathy: Characterizing the epileptology

    Bayat, A., de Valles-Ibáñez, G., Pendziwiat, M., Knaus, A., Alt, K., Biamino, E., Bley, A., Calvert, S., Carney, P., Caro-Llopis, A., Ceulemans, B., Cousin, J., Davis, S., des Portes, V., Edery, P., England, E., Ferreira, C., Freeman, J., Gener, B., Gorce, M., & 49 othersHeron, D., Hildebrand, M. S., Jezela-Stanek, A., Jouk, P. S., Keren, B., Kloth, K., Kluger, G., Kuhn, M., Lemke, J. R., Li, H., Martinez, F., Maxton, C., Mefford, H. C., Merla, G., Mierzewska, H., Muir, A., Monfort, S., Nicolai, J., Norman, J., O'Grady, G., Oleksy, B., Orellana, C., Orec, L. E., Peinhardt, C., Pronicka, E., Rosello, M., Santos-Simarro, F., Schwaibold, E. M. C., Stegmann, A. P. A., Stumpel, CT., Szczepanik, E., Terczyńska, I., Thevenon, J., Tzschach, A., Van Bogaert, P., Vittorini, R., Walsh, S., Weckhuysen, S., Weissman, B., Wolfe, L., Reymond, A., De Nittis, P., Poduri, A., Olson, H., Striano, P., Lesca, G., Scheffer, I. E., Møller, R. S. & Sadleir, L. G., Apr 2022, In: Epilepsia. 63, 4, p. 974-991

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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

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  • 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.

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  • SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy

    Sourbron, J., Jansen, K., Mei, D., Hammer, T. B., Møller, R. S., Gold, N. B., O'Grady, L., Guerrini, R. & Lagae, L., 1. Feb 2022, In: Neuropediatrics. 53, 1, p. 046-051

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  • 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

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  • The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

    Tümer, Z. & Undiagnosed Diseases Network, Feb 2022, In: Human Mutation. 43, 2, p. 266-282 17 p.

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  • The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

    Brunklaus, A., Brünger, T., Feng, T., Fons, C., Lehikoinen, A., Panagiotakaki, E., Vintan, M-A., Symonds, J., Andrew, J., Arzimanoglou, A., Delima, S., Gallois, J., Hanrahan, D., Lesca, G., MacLeod, S., Marjanovic, D., McTague, A., Nuñez-Enamorado, N., Perez-Palma, E., Scott Perry, M., & 15 othersPysden, K., Russ-Hall, S. J., Scheffer, I. E., Sully, K., Syrbe, S., Vaher, U., Velayutham, M., Vogt, J., Weiss, S., Wirrell, E., Zuberi, S. M., Lal, D., Møller, R. S., Mantegazza, M. & Cestèle, S., 21. Nov 2022, In: Brain : a journal of neurology. 145, 11, p. 3816-3831

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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

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  • 2021

    ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria

    Vetro, A., Nielsen, H. N., Holm, R., Hevner, R. F., Parrini, E., Powis, Z., Møller, R. S., Bellan, C., Simonati, A., Lesca, G., Helbig, K. L., Palmer, E. E., Mei, D., Ballardini, E., Haeringen, A. V., Syrbe, S., Leuzzi, V., Cioni, G., Curry, C. J., Costain, G., & 10 othersSantucci, M., Chong, K., Mancini, G. M. S., Clayton-Smith, J., A-Collaborators, A. A., Bigoni, S., Scheffer, I. E., Dobyns, W. B., Vilsen, B. & Guerrini, R., 22. Jun 2021, In: Brain : a journal of neurology. 144, 5, p. 1435-1450

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  • Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome

    Masnada, S., Pichiecchio, A., Formica, M., Arrigoni, F., Borrelli, P., Accorsi, P., Bonanni, P., Borgatti, R., Dalla Bernardina, B., Danieli, A., Darra, F., Deconinck, N., De Giorgis, V., Dulac, O., Gataullina, S., Giordano, L., Guerrini, R., La Briola, F., Mastrangelo, M., Montomoli, M., & 44 othersMortilla, M., Osanni, E., Parisi, P., Perucca, E., Pinelli, L., Romaniello, R., Severino, M., Vigevano, F., Vignoli, A., Bahi-Buisson, N., Cavallin, M., Accogli, A., Burgeois, M., Capra, V., Chaves-Vischer, V., Chiapparini, L., Colafati, G., D'Arrigo, S., Desguerre, I., Doco-Fenzy, M., D'Orsi, G., Epitashvili, N., Fazzi, E., Ferretti, A., Fiorini, E., Fradin, M., Fusco, C., Granata, T., Johannesen, K. M., Lebon, S., Loget, P., Moller, R. S., Montanaro, D., Orcesi, S., Quelin, C., Rebessi, E., Romeo, A., Solazzi, R., Spagnoli, C., Uebler, C., Zara, F., Arzimanoglou, A., Veggiotti, P. & Grp, A. S. I. S., 2. Mar 2021, In: Neurology. 96, 9, p. e1319-e1333

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  • Characterization of the GABRB2-Associated Neurodevelopmental Disorders

    el Achkar, C. M., Harrer, M., Smith, L., Kelly, M., Iqbal, S., Maljevic, S., Niturad, C. E., Vissers, L. E. L. M., Poduri, A., Yang, E., Lal, D., Lerche, H., Møller, R. S., Olson, H. E. & for the GABRB2 Working Group, Mar 2021, In: Annals of Neurology. 89, 3, p. 573-586

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  • Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders

    Nøstvik, M., Kateta, S. M., Schönewolf-Greulich, B., Afenjar, A., Barth, M., Boschann, F., Doummar, D., Haack, T. B., Keren, B., Livshits, L. A., Mei, D., Park, J., Pisano, T., Prouteau, C., Umair, M., Waqas, A., Ziegler, A., Guerrini, R., Møller, R. S. & Tümer, Z., Nov 2021, In: Clinical Genetics. 100, 5, p. 628-633

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  • 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, L., Tümer, Z., Rubboli, G. & Møller, R. S., Feb 2021, In: Epilepsy Research. 170, 106530.

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  • 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, G., 11. May 2021, In: Frontiers in Genetics. 12, 12 p., 663643.

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  • De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

    Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., Care4Rare Canada Consortium, Chung, W. K., Clarke, A. J., Devine, P., Donkervoort, S., Fraser, J. L., Friedman, J., Gates, A., Ghoumid, J., Hobson, E., & 31 othersHorvath, G., Keller-Ramey, J., Keren, B., Kurian, M. A., Lee, V., Leppig, K. A., Lundgren, J., McDonald, M. T., McTague, A., Mefford, H. C., Mignot, C., Mikati, M. A., Nava, C., Raymond, F. L., Sampson, J. R., Sanchis-Juan, A., Shashi, V., Shieh, J. T. C., Shinawi, M., Slavotinek, A., Stödberg, T., Stong, N., Sullivan, J. A., Taylor, A. C., Toler, T. L., van den Boogaard, M. J., van der Crabben, S. N., van Gassen, K. L. I., van Jaarsveld, R. H., Van Ziffle, J. & Møller, R. S., Apr 2021, In: Genetics in Medicine. 23, 4, p. 653-660

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  • 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

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  • Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

    Kojic, M., Gawda, T., Gaik, M., Begg, A., Salerno-Kochan, A., Kurniawan, N. D., Jones, A., Drożdżyk, K., Kościelniak, A., Chramiec-Głąbik, A., Hediyeh-Zadeh, S., Kasherman, M., Shim, W. J., Sinniah, E., Genovesi, L. A., Abrahamsen, R. K., Fenger, C. D., Madsen, C. G., Cohen, J. S., Fatemi, A., & 20 othersStark, Z., Lunke, S., Lee, J., Hansen, J. K., Boxill, M. F., Keren, B., Marey, I., Saenz, M. S., Brown, K., Alexander, S. A., Mureev, S., Batzilla, A., Davis, M. J., Piper, M., Bodén, M., Burne, T. H. J., Palpant, N. J., Møller, R. S., Glatt, S. & Wainwright, B. J., 11. May 2021, In: Nature Communications. 12, 18 p., 2678.

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  • Epilepsy syndromes in the first year of life and usefulness of genetic testing for precision therapy

    Bayat, A., Bayat, M., Rubboli, G. & Møller, R. S., Jul 2021, In: Genes. 12, 7, 19 p., 1051.

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  • Expansion of the CCDC22 associated ritscher-schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?

    Gjerulfsen, C. E., Møller, R. S., Fenger, C. D., Hammer, T. B. & Bayat, A., Jul 2021, In: European Journal of Medical Genetics. 64, 7, 7 p., 104246.

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  • Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

    Courraud, J., Chater-Diehl, E., Durand, B., Vincent, M., del Mar Muniz Moreno, M., Boujelbene, I., Drouot, N., Genschik, L., Schaefer, E., Nizon, M., Gerard, B., Abramowicz, M., Cogné, B., Bronicki, L., Burglen, L., Barth, M., Charles, P., Colin, E., Coubes, C., David, A., & 50 othersDelobel, B., Demurger, F., Passemard, S., Denommé, A. S., Faivre, L., Feger, C., Fradin, M., Francannet, C., Genevieve, D., Goldenberg, A., Guerrot, A. M., Isidor, B., Johannesen, K. M., Keren, B., Kibæk, M., Kuentz, P., Mathieu-Dramard, M., Demeer, B., Metreau, J., Steensbjerre Møller, R., Moutton, S., Pasquier, L., Pilekær Sørensen, K., Perrin, L., Renaud, M., Saugier, P., Rio, M., Svane, J., Thevenon, J., Tran Mau Them, F., Tronhjem, C. E., Vitobello, A., Layet, V., Auvin, S., Khachnaoui, K., Birling, M. C., Drunat, S., Bayat, A., Dubourg, C., El Chehadeh, S., Fagerberg, C., Mignot, C., Guipponi, M., Bienvenu, T., Herault, Y., Thompson, J., Willems, M., Mandel, J. L., Weksberg, R. & Piton, A., Nov 2021, In: Genetics in Medicine. 23, 11, p. 2150-2159

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  • 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 : a journal of neurology. 144, 12, p. 3635-3650

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  • 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

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  • 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

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  • PRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders

    Bayat, A., Iqbal, S., Borredy, K., Amiel, J., Zweier, C., Barcia, G., Kraus, C., Weyhreter, H., Bassuk, A. G., Chopra, M., Rubboli, G. & Møller, R. S., Aug 2021, In: European Journal of Human Genetics. 29, 8, p. 1235-1244

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  • 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.

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  • Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies

    Balestrini, S., Chiarello, D., Gogou, M., Silvennoinen, K., Puvirajasinghe, C., Jones, W. D., Reif, P., Klein, K. M., Rosenow, F., Weber, Y. G., Lerche, H., Schubert-Bast, S., Borggraefe, I., Coppola, A., Troisi, S., Møller, R. S., Riva, A., Striano, P., Zara, F., Hemingway, C., & 7 othersMarini, C., Rosati, A., Mei, D., Montomoli, M., Guerrini, R., Cross, J. H. & Sisodiya, S. M., Oct 2021, In: Journal of Neurology, Neurosurgery and Psychiatry. 92, 10, p. 1044-1052

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  • Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

    Döring, J. H., Schröter, J., Jüngling, J., Biskup, S., Klotz, K. A., Bast, T., Dietel, T., Korenke, G. C., Christoph, S., Brennenstuhl, H., Rubboli, G., Møller, R. S., Lesca, G., Chaix, Y., Kölker, S., Hoffmann, G. F., Lemke, J. R. & Syrbe, S., 10. Mar 2021, In: International Journal of Molecular Sciences . 22, 6, 16 p., 2824.

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  • RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood

    Zagaglia, S., Steel, D., Krithika, S., Hernandez-Hernandez, L., Custodio, H. M., Gorman, K. M., Vezyroglou, A., Møller, R. S., King, M. D., Hammer, T. B., Spaull, R., Fazeli, W., Bartolomaeus, T., Doummar, D., Keren, B., Mignot, C., Bednarek, N., Cross, J. H., Mallick, A. A., Sanchis-Juan, A., & 8 othersBasu, A., Raymond, F. L., Lynch, B. J., Majumdar, A., Stamberger, H., Weckhuysen, S., Sisodiya, S. M. & Kurian, M. A., 16. Mar 2021, In: Neurology. 96, 11, p. e1539-e1550

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  • 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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