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2020

A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants

López-Rivera, J. A., Pérez-Palma, E., Symonds, J., Lindy, A. S., McKnight, D. A., Leu, C., Zuberi, S., Brunklaus, A., Møller, R. S. & Lal, D., 1. Apr 2020, In : Brain : a journal of neurology. 143, 4, p. 1099-1105

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A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

Kolc, K. L., Sadleir, L. G., Depienne, C., Marini, C., Scheffer, I. E., Møller, R. S., Trivisano, M., Specchio, N., Pham, D., Kumar, R., Roberts, R. & Gecz, J., 4. May 2020, In : Translational Psychiatry. 10, 9 p., 127.

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Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

Brunklaus, A., Du, J., Steckler, F., Ghanty, I. I., Johannesen, K. M., Fenger, C. D., Schorge, S., Baez-Nieto, D., Wang, H. R., Allen, A., Pan, J. Q., Lerche, H., Heyne, H., Symonds, J. D., Zuberi, S. M., Sanders, S., Sheidley, B. R., Craiu, D., Olson, H. E., Weckhuysen, S. & 12 others, DeJonge, P., Helbig, I., Van Esch, H., Busa, T., Milh, M., Isidor, B., Depienne, C., Poduri, A., Campbell, A. J., Dimidschstein, J., Møller, R. S. & Lal, D., Mar 2020, In : Epilepsia. 61, 3, p. 387-399

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Co-activation of rhythms during alpha band oscillations as an interictal biomarker of exploding head syndrome

Fotis Sakellariou, D., Nesbitt, A. D., Higgins, S., Beniczky, S., Rosenzweig, J., Drakatos, P., Gildeh, N., Murphy, P. B., Kent, B., Williams, A. J., Kryger, M., Goadsby, P. J., Leschziner, G. D. & Rosenzweig, I., 1. Jan 2020, In : Cephalalgia.

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Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders

Du, J., Simmons, S., Brunklaus, A., Adiconis, X., Hession, C. C., Fu, Z., Li, Y., Shema, R., Møller, R. S., Barak, B., Feng, G., Meisler, M., Sanders, S., Lerche, H., Campbell, A. J., McCarroll, S., Levin, J. Z. & Lal, D., 1. Jan 2020, In : European Journal of Paediatric Neurology. 24, p. 129-133

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Epidemiology and Outcome of Idiopathic Generalized Epilepsy in Adults

Gesche, J., Christensen, J., Hjalgrim, H., Rubboli, G. & Beier, C. P., Apr 2020, In : European Journal of Neurology. 27, 4, p. 676-684

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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

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Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

EuroEPINOMICS RES Consortium, 17. Mar 2020, In : Genome Medicine. 12, 12 p., 28.

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Infantile spasmer

Translated title of the contribution: Infantile spasmsPréel, M., Møller, R. S., Miranda, M. J. & Hoei-Hansen, C. E., 6. Apr 2020, In : Ugeskrift for Laeger. V10190597.

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 others, Jezela-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

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Mowat-Wilson syndrome: growth charts

Ivanovski, I., Djuric, O., Broccoli, S., Caraffi, S. G., Accorsi, P., Adam, M. P., Avela, K., Badura-Stronka, M., Bayat, A., Clayton-Smith, J., Cocco, I., Cordelli, D. M., Cuturilo, G., Di Pisa, V., Dupont Garcia, J., Gastaldi, R., Giordano, L., Guala, A., Hoei-Hansen, C., Inaba, M. & 33 others, Iodice, A., Nielsen, J. E. K., Kuburovic, V., Lazalde-Medina, B., Malbora, B., Mizuno, S., Moldovan, O., Møller, R. S., Muschke, P., Otelli, V., Pantaleoni, C., Piscopo, C., Poch-Olive, M. L., Prpic, I., Marín Reina, P., Raviglione, F., Ricci, E., Scarano, E., Simonte, G., Smigiel, R., Tanteles, G., Tarani, L., Trimouille, A., Valera, E. T., Schrier Vergano, S., Writzl, K., Callewaert, B., Savasta, S., Street, M. E., Iughetti, L., Bernasconi, S., Giorgi Rossi, P. & Garavelli, L., 15. Jun 2020, In : Orphanet Journal of Rare Diseases. 15, 1, p. 151

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Open Access

Noninvasive detection of focal seizures in ambulatory patients

Ryvlin, P., Cammoun, L., Hubbard, I., Ravey, F., Beniczky, S. & Atienza, D., 2. Jun 2020, In : Epilepsia.

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Novel clinical and radiological findings in a family with autosomal recessive omodysplasia

Bayat, A., Dunø, M., Kirchhoff, M., Jørgensen, F. S., Nishimura, G. & Hove, H. B., May 2020, In : Molecular Syndromology. 11, 2, p. 83-89

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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 others, Raymond, 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

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Nye tiltag indenfor udredning og behandling af infantile spasmer

Translated title of the contribution: Infantile spasmsPréel, M., Møller, R. S., Miranda, M. J. & Hoei-Hansen, C. E., 6. Apr 2020, In : Ugeskrift for Laeger. 182, 15

Research output: Contribution to journalJournal articleResearchpeer-review

Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study

EpiPGX Consortium, 14. Apr 2020, In : Pharmacogenomics. 21, 5, p. 325-335

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Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

EuroEPINOMICS RES Consortium, May 2020, In : Epilepsia. 61, 5, p. 995-1007

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Prevalence and causes of infantile nystagmus in a large population-based Danish cohort

Hvid, K., Nissen, K. R., Bayat, A., Roos, L., Grønskov, K. & Kessel, L., 17. Feb 2020, In : ACTA Ophthalmologica.

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REM-sleep related hypermotor seizures: Video documentation and ictal source imaging

Arbune, A. A., Nikanorova, M., Terney, D. & Beniczky, S., 1. Jan 2020, In : Brain & Development. 42, 7, p. 503-507

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Testing association of rare genetic variants with resistance to three common antiseizure medications

EpiPGX Consortium, 1. Apr 2020, In : Epilepsia. 61, 4, p. 657-666

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The clinical spectrum of familial and sporadic idiopathic generalized epilepsy

Gesche, J., Hjalgrim, H., Rubboli, G. & Beier, C. P., Sep 2020, In : Epilepsy Research. 165, 106374.

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The importance of semiological information based on epileptic seizure history

Wolf, P., Benbadis, S., Dimova, P. S., Vinayan, K. P., Michaelis, R., Reuber, M. & Yacubian, E. M., Feb 2020, In : Epileptic Disorders. 22, 1, p. 15-31

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The role of EEG in patients with suspected epilepsy

Benbadis, S. R., Beniczky, S., Bertram, E., MacIver, S. & Moshé, S. L., 1. Apr 2020, In : Epileptic disorders : international epilepsy journal with videotape. 22, 2, p. 143-155

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Utility of genetic testing for therapeutic decision-making in adults with epilepsy

Johannesen, K. M., Nikanorova, N., Marjanovic, D., Pavbro, A., Larsen, L. H. G., Rubboli, G. & Møller, R. S., Jun 2020, In : Epilepsia. 61, 6, p. 1234-1239

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Wer war eigentlich Dieter Janz?

Translated title of the contribution: Who actually was Dieter Janz?Wolf, P., 24. Apr 2020, In : Zeitschrift fur Epileptologie. 33, p. 107-112

Research output: Contribution to journalJournal articleResearchpeer-review

2019

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family

Sher, M., Farooq, M., Abdullah, U., Ali, Z., Faryal, S., Zakaria, M., Ullah, F., Bukhari, H., Møller, R. S., Tommerup, N. & Baig, S. M., 2. Sep 2019, In : International Journal of Neuroscience. 129, 9, p. 890-895

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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

Helbig, I., Lopez-Hernandez, T., Shor, O., Galer, P., Ganesan, S., Pendziwiat, M., Rademacher, A., Ellis, C. A., Hümpfer, N., Schwarz, N., Seiffert, S., Peeden, J., Shen, J., Štěrbová, K., Hammer, T. B., Møller, R. S., Shinde, D. N., Tang, S., Smith, L., Poduri, A. & 7 others, Krause, R., Benninger, F., Helbig, K. L., Haucke, V., Weber, Y. G., the EuroEPINOMICS-RES Consortium & the GRIN Consortium, 6. Jun 2019, In : American Journal of Human Genetics. 104, 6, p. 1060-1072

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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

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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Siekierska, A., Stamberger, H., Deconinck, T., Oprescu, S. N., Partoens, M., Zhang, Y., Sourbron, J., Adriaenssens, E., Mullen, P., Wiencek, P., Hardies, K., Lee, J. S., Giong, H. K., Distelmaier, F., Elpeleg, O., Helbig, K. L., Hersh, J., Isikay, S., Jordan, E., Karaca, E. & 20 others, Kecskes, A., Lupski, J. R., Kovacs-Nagy, R., May, P., Narayanan, V., Pendziwiat, M., Ramsey, K., Rangasamy, S., Shinde, D. N., Spiegel, R., Timmerman, V., von Spiczak, S., Helbig, I., C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, Weckhuysen, S., Francklyn, C., Antonellis, A., de Witte, P. A. M. & De Jonghe, P., 12. Feb 2019, In : Nature Communications. 10, 15 p., 708.

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Clinical and genetic spectrum of SCN2A-associated episodic ataxia

Schwarz, N., Bast, T., Gaily, E., Golla, G., Gorman, K. M., Griffiths, L. R., Hahn, A., Hukin, J., King, M., Korff, C., Miranda, M. J., Møller, R. S., Neubauer, B., Smith, R. A., Smol, T., Striano, P., Stroud, B., Vaccarezza, M., Kluger, G., Lerche, H. & 1 others, Fazeli, W., 1. May 2019, In : European Journal of Paediatric Neurology. 23, 3, p. 438-447

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Clinical spectrum of STX1B-related epileptic disorders

Wolking, S., May, P., Mei, D., Møller, R. S., Balestrini, S., Helbig, K. L., Altuzarra, C. D., Chatron, N., Kaiwar, C., Stöhr, K., Widdess-Walsh, P., Mendelsohn, B. A., Numis, A., Cilio, M. R., Van Paesschen, W., Svendsen, L. L., Oates, S., Hughes, E., Goyal, S., Brown, K. & 31 others, Sifuentes Saenz, M., Dorn, T., Muhle, H., Pagnamenta, A. T., Vavoulis, D. V., Knight, S. J. L., Taylor, J. C., Canevini, M. P., Darra, F., Gavrilova, R. H., Powis, Z., Tang, S., Marquetand, J., Armstrong, M., McHale, D., Klee, E. W., Kluger, G. J., Lowenstein, D. H., Weckhuysen, S., Pal, D. K., Helbig, I., Guerrini, R., Thomas, R. H., Rees, M. I., Lesca, G., Sisodiya, S. M., Weber, Y. G., Lal, D., Marini, C., Lerche, H. & Schubert, J., 12. Mar 2019, In : Neurology. 92, 11, p. e1238-e1249

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Current treatment options for Encephalopathy related to Status Epilepticus during slow Sleep

Jansen, F. E., Nikanorova, M. & Peltola, M., Jun 2019, In : Epileptic disorders : international epilepsy journal with videotape. 21, S1, p. 76-81

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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 others, Merkenschlager, 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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Diagnostic implications of genetic copy number variation in epilepsy plus

Coppola, A., Cellini, E., Stamberger, H., Saarentaus, E., Cetica, V., Lal, D., Djemie, T., Bartnik-Glaska, M., Ceulemans, B., Cross, J. H., Deconinck, T., De Masi, S., Dorn, T., Guerrini, R., Hoffman-Zacharska, D., Kooy, F., Lagae, L., Lench, N., Lemke, J. R., Lucenteforte, E. & 21 others, Madia, F., Mefford, H. C., Morrogh, D., Nuernberg, P., Palotie, A., Schoonjans, A-S., Striano, P., Szczepanik, E., Tostevin, A., Vermeesch, J. R., Van Esch, H., Van Paesschen, W., Waters, J. J., Weckhuysen, S., Zara, F., Jonghe, P. D., Sisodiya, S. M., Marini, C., EuroEPINOMICS RES Consortium, Moller, R. S. & Hjalgrim, H., 1. Apr 2019, In : Epilepsia. 60, 4, p. 689-706 18 p.

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EEG features in Encephalopathy related to Status Epilepticus during slow Sleep

Gardella, E., Cantalupo, G., Larsson, P. G., Fontana, E., Bernardina, B. D., Rubboli, G. & Darra, F., Jun 2019, In : Epileptic disorders : international epilepsy journal with videotape. 21, S1, p. S22-S30

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Encephalopathy related to Status Epilepticus during slow Sleep: current concepts and future directions

Tassinari, C. A. & Rubboli, G., Jun 2019, In : Epileptic disorders : international epilepsy journal with videotape. 21, S1, p. 82-87

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Encephalopathy with continuous spike-waves during slow-wave sleep: evolution and prognosis

Caraballo, R., Pavlidis, E., Nikanorova, M. & Loddenkemper, T., Jun 2019, In : Epileptic disorders : international epilepsy journal with videotape. 21, S1, p. S15-S21

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Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Jønch, A. E., Douard, E., Moreau, C., Van Dijck, A., Passeggeri, M., Kooy, F., Puechberty, J., Campbell, C., Sanlaville, D., Lefroy, H., Richetin, S., Pain, A., Geneviève, D., Kini, U., Le Caignec, C., Lespinasse, J., Skytte, A. B., Isidor, B., Zweier, C., Caberg, J. H. & 8 others, Delrue, M. A., Møller, R. S., Bojesen, A., Hjalgrim, H., Brasch-Andersen, C., Lemyre, E., Ousager, L. B. & Jacquemont, S., Oct 2019, In : Journal of Medical Genetics. 56, 10, p. 701-710

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Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial

Lagae, L., Sullivan, J., Knupp, K., Laux, L., Polster, T., Nikanorova, M., Devinsky, O., Cross, J. H., Guerrini, R., Talwar, D., Miller, I., Farfel, G., Galer, B. S., Gammaitoni, A., Mistry, A., Morrison, G., Lock, M., Agarwal, A., Lai, W. W., Ceulemans, B. & 1 others, FAiRE DS Study Group, 21. Dec 2019, In : The Lancet. 394, 10216, p. 2243-2254

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Forced normalization: A systematic review

Calle-López, Y., Ladino, L. D., Benjumea-Cuartas, V., Castrillón-Velilla, D. M., Téllez-Zenteno, J. F. & Wolf, P., Aug 2019, In : Epilepsia. 60, 8, p. 1610-1618

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Genetic heterogeneity in infantile spasms

Muir, A. M., Myers, C. T., Nguyen, N. T., Saykally, J., Craiu, D., De Jonghe, P., Helbig, I., Hoffman-Zacharska, D., Guerrini, R., Lehesjoki, A-E., Marini, C., Møller, R. S., Serratosa, J., Štěrbová, K., Striano, P., von Spiczak, S., Weckhuysen, S., Mefford, H. C. & EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen, Oct 2019, In : Epilepsy Research. 156, 5 p., 106181.

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GRIN2A-related disorders: genotype and functional consequence predict phenotype

Strehlow, V., Heyne, H. O., Vlaskamp, D. R. M., Marwick, K. F. M., Rudolf, G., de Bellescize, J., Biskup, S., Brilstra, E. H., Brouwer, O. F., Callenbach, P. M. C., Hentschel, J., Hirsch, E., Kind, P. C., Mignot, C., Platzer, K., Rump, P., Skehel, P. A., Wyllie, D. J. A., Hardingham, G. E., van Ravenswaaij-Arts, C. M. A. & 3 others, Lesca, G., Lemke, J. R. & GRIN2A study group , 1. Jan 2019, In : Brain. 142, 1, p. 80-92

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Idiopathic encephalopathy related to status epilepticus during slow sleep (ESES) as a “pure” model of epileptic encephalopathy. An electroclinical, genetic, and follow-up study

Pavlidis, E., Møller, R. S., Nikanorova, M., Kölmel, M. S., Stendevad, P., Beniczky, S., Tassinari, C. A., Rubboli, G. & Gardella, E., 1. Aug 2019, In : Epilepsy and Behavior. 97, p. 244-252

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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 others, Cristancho, 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., Apr 2019, In : Genetics in Medicine. 21, 4, p. 837-849

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Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations

Rubboli, G., Plazzi, G., Picard, F., Nobili, L., Hirsch, E., Chelly, J., Prayson, R. A., Boutonnat, J., Bramerio, M., Kahane, P., Dibbens, L. M., Gardella, E., Baulac, S. & Møller, R. S., Feb 2019, In : Annals of Clinical and Translational Neurology. 6, 2, p. 386-391

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Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

Liu, Y., Schubert, J., Sonnenberg, L., Helbig, K. L., Hoei-Hansen, C. E., Koko, M., Rannap, M., Lauxmann, S., Huq, M., Schneider, M. C., Johannesen, K. M., Kurlemann, G., Gardella, E., Becker, F., Weber, Y. G., Benda, J., Møller, R. S. & Lerche, H., 1. Feb 2019, In : Brain. 142, 2, p. 376-390

Research output: Contribution to journalJournal articleResearchpeer-review

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy

Schulz, H., Ruppert, A-K., Zara, F., Madia, F., Iacomino, M., S Vari, M., Balagura, G., Minetti, C., Striano, P., Bianchi, A., Marini, C., Guerrini, R., Weber, Y. G., Becker, F., Lerche, H., Kapser, C., Schankin, C. J., Kunz, W. S., Møller, R. S., Oliver, K. L. & 11 others, Bellows, S. T., Mullen, S. A., Berkovic, S. F., Scheffer, I. E., Caglayan, H., Ozbek, U., Hoffmann, P., Schramm, S., Tsortouktzidis, D., Becker, A. J. & Sander, T., May 2019, In : Epilepsia. 60, 5, p. e31-e36

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Parental mosaicism in epilepsies due to alleged de novo variants

Møller, R. S., Liebmann, N., Larsen, L. H. G., Stiller, M., Hentschel, J., Kako, N., Abdin, D., Di Donato, N., Pal, D. K., Zacher, P., Syrbe, S., Dahl, H. A. & Lemke, J. R., 1. Jun 2019, In : Epilepsia. 60, 6, p. e63-e66

Research output: Contribution to journalJournal articleResearchpeer-review

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Pharmacokinetic variability and clinical use of lacosamide in children and adolescents in Denmark and Norway

Burns, M. L., Nikanorova, M., Baftiu, A., Rasmussen, J. B., Johannessen, S. I. & Landmark, C. J., Jun 2019, In : Therapeutic Drug Monitoring. 41, 3, p. 340-347

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Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes

Gardella, E. & Møller, R. S., 1. Dec 2019, In : Epilepsia. 60, S3, p. S77-S85

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access