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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, 107449.

    Research output: Contribution to journalJournal articleResearchpeer-review

  • 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 others, Geßner, 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., 26. May 2022, (E-pub ahead of print) In: Clinical Genetics.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
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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 others, Zuberi, S. M. & Lal, D., 15. Mar 2022, In: Neurology. 98, 11, p. e1163-e1174

    Research output: Contribution to journalJournal articleResearchpeer-review

  • 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.

    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 others, Chebib, M. & Møller, R. S., 24. May 2022, In: Brain : a journal of neurology. 145, 4, p. 1299-1309

    Research output: Contribution to journalJournal articleResearchpeer-review

  • 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.

    Research output: Contribution to journalJournal articleResearchpeer-review

  • 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.

    Research output: Contribution to journalJournal articleResearchpeer-review

  • 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., 20. Jun 2022, (E-pub ahead of print) In: Neurotherapeutics.

    Research output: Contribution to journalJournal articleResearchpeer-review

  • 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 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
  • 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 others, Heron, 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

    Research output: Contribution to journalJournal articleResearchpeer-review

  • 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 : a journal of neurology. 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 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 journalJournal articleResearchpeer-review

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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

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

  • 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.

    Research output: Contribution to journalJournal articleResearchpeer-review

  • 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

    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 others, Santucci, 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

    Research output: Contribution to journalJournal articleResearchpeer-review

  • 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 others, Mortilla, 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

    Research output: Contribution to journalJournal articleResearchpeer-review

    Open Access
  • 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

    Research output: Contribution to journalJournal articleResearchpeer-review

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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

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (Genetics in Medicine, (2021), 23, 4, (653-660), 10.1038/s41436-020-01020-w)

    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. & 33 others, Horvath, G., Keller-Ramey, J., Keren, B., Kurian, M. A., Lee, V., Leppig, K. A., Lundgren, J., McDonald, M. T., McLaughlin, H. M., 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., Møller, R. S., Lemke, J. W. & Platzer, K., Apr 2021, In: Genetics in Medicine. 23, 4, p. 796

    Research output: Contribution to journalComment/debateResearchpeer-review

  • 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.

    Research output: Contribution to journalJournal articleResearchpeer-review

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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 others, Horvath, 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

    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 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 journalJournal articleResearchpeer-review

  • 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 others, Stark, 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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  • 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

  • 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.

    Research output: Contribution to journalJournal articleResearchpeer-review

  • 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., 25. Aug 2021, (E-pub ahead of print) In: Brain : a journal of neurology.

    Research output: Contribution to journalJournal articleResearchpeer-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 others, Sterbova, 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

  • 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 others, Delobel, 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 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 : 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 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

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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 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

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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 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.

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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 others, Marini, 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 others, Basu, 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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  • 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 Angelman Syndrome Online Registry: A multilingual approach to support global research

    Krey, I., Heine, C., Frömming, M., Herrmann, J., Møller, R. S., Weckhuysen, S., Courage, C., Beblo, S., Syrbe, S. & Lemke, J. R., Dec 2021, In: European Journal of Medical Genetics. 64, 12, 5 p., 104349.

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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 others, Smith, 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.

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  • 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 others, Francannet, 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.

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  • Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy

    Kellner, S., Abbasi, A., Carmi, I., Heinrich, R., Garin-Shkolnik, T., Hershkovitz, T., Giladi, M., Haitin, Y., Johannesen, K. M., Møller, R. S. & Berlin, S., 2. Jul 2021, In: eLife. 10, 28 p., e67555.

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  • ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

    Oates, S., Absoud, M., Goyal, S., Bayley, S., Baulcomb, J., Sims, A., Riddett, A., Allis, K., Brasch-Andersen, C., Balasubramanian, M., Bai, R., Callewaert, B., Hüffmeier, U., Le Duc, D., Radtke, M., Korff, C., Kennedy, J., Low, K., Møller, R. S., Nielsen, J. E. K. & 15 others, Popp, B., Quteineh, L., Rønde, G., Schönewolf-Greulich, B., Shillington, A., Taylor, M. R. G., Todd, E., Torring, P. M., DMSc, Z. T. M. D. P. D., Vasileiou, G., Yates, T. M., Zweier, C., Rosch, R., Basson, M. A. & Pal, D. K., Oct 2021, In: Clinical Genetics. 100, 4, p. 412-429

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