Research Output

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

Research output: Contribution to journalJournal articleResearchpeer-review

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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

Research output: Contribution to journalJournal articleResearchpeer-review

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.

Research output: Contribution to journalJournal articleResearchpeer-review

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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

Research output: Contribution to journalJournal articleResearchpeer-review

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

Research output: Contribution to journalJournal articleResearchpeer-review

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

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

Research output: Contribution to journalJournal articleResearchpeer-review

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

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access

Neurological manifestations of neurofibromatosis: a review

Bayat, M. & Bayat, A., 1. May 2020, In : Neurological Sciences.

Research output: Contribution to journalReviewResearchpeer-review

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.

Research output: Contribution to journalJournal articleResearchpeer-review

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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

Research output: Contribution to journalJournal articleResearchpeer-review

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

Research output: Contribution to journalJournal articleResearchpeer-review

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

Research output: Contribution to journalJournal articleResearchpeer-review

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

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

Research output: Contribution to journalJournal articleResearchpeer-review

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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.

Research output: Contribution to journalJournal articleResearchpeer-review

Reader response: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

Wolf, P., von Stülpnagel, C., Hartlieb, T., Møller, R. S. & Kluger, G. J., 25. Feb 2020, In : Neurology. 94, 8, p. 368-369

Research output: Contribution to journalComment/debateResearchpeer-review

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 journalReviewResearchpeer-review

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

Research output: Contribution to journalJournal articleResearchpeer-review

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.

Research output: Contribution to journalJournal articleResearchpeer-review

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

Research output: Contribution to journalJournal articleResearchpeer-review

The “Epileptic Heart” and the “cardiovascular continuum”

Fialho, G. L., Wolf, P., Walz, R. & Lin, K., Jul 2020, In : Epilepsy and Behavior. 108, 107044.

Research output: Contribution to journalLetterResearchpeer-review

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

Research output: Contribution to journalJournal articleResearchpeer-review

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

Research output: Contribution to journalJournal articleResearchpeer-review

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

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access

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

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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Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases

Stülpnagel, C. V., Hartlieb, T., Borggräfe, I., Coppola, A., Gennaro, E., Eschermann, K., Kiwull, L., Kluger, F., Krois, I., Møller, R. S., Rössler, F., Santulli, L., Schwermer, C., Wallacher-Scholz, B., Zara, F., Wolf, P. & Kluger, G., Feb 2019, In : Seizure. 65, p. 131-137

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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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Clinician's guide to genes associated with Rett-like phenotypes: Investigation of a Danish cohort and review of the literature

Schönewolf-Greulich, B., Bisgaard, A-M., Møller, R. S., Dunø, M., Brøndum-Nielsen, K., Kaur, S., Van Bergen, N. J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J. & Tümer, Z., Feb 2019, In : Clinical Genetics. 95, 2, p. 221-230

Research output: Contribution to journalReviewResearchpeer-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 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., Aug 2019, In : Genetics in Medicine. 21, 8, p. 1897-1898

Research output: Contribution to journalComment/debateResearchpeer-review

Open Access

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

Research output: Contribution to journalJournal articleResearchpeer-review

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

Research output: Contribution to journalJournal articleResearchpeer-review

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

Research output: Contribution to journalJournal articleResearchpeer-review

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

Research output: Contribution to journalJournal articleResearchpeer-review

Epilepsy and ultra-structural heart changes: The role of catecholaminergic toxicity and myocardial fibrosis. What can we learn from cardiology?

Fialho, G. L., Wolf, P., Walz, R. & Lin, K., Oct 2019, In : Seizure. 71, p. 105-109

Research output: Contribution to journalReviewResearchpeer-review

Erratum: Correction: The landscape of epilepsy-related GATOR1 variants (Genetics in medicine : official journal of the American College of Medical Genetics (2019) 21 2 (398-408))

Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., de Saint Martin, A., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmüller, G., Sisodiya, S. & 68 others, Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E. H., Jansen, F. E., Braun, K., de Jong, D., Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M. L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Krsek, P., Biraben, A., Lebre, A. S., Jennesson, M., Sattar, S., Marchal, C., NordliJr, D. R., Lindstrom, K., Striano, P., Lomax, L. B., Kiss, C., Bartolomei, F., Lepine, A. F., Schoonjans, A. S., Stouffs, K., Jansen, A., Panagiotakaki, E., Ricard-Mousnier, B., Thevenon, J., de Bellescize, J., Catenoix, H., Dorn, T., Zenker, M., Müller-Schlüter, K., Brandt, C., Krey, I., Polster, T., Wolff, M., Balci, M., Rostasy, K., Achaz, G., Zacher, P., Becher, T., Cloppenborg, T., Yuskaitis, C. J., Weckhuysen, S., Poduri, A., Lemke, J. R., Møller, R. S. & Baulac, S., 1. Aug 2019, In : Genetics in medicine : official journal of the American College of Medical Genetics. 21, 8, p. 1896 1 p.

Research output: Contribution to journalComment/debateResearchpeer-review

Open Access

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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First report of the neuropathological findings in a patient with leukodystrophy and compound heterozygous variants in the PIGT gene

Larsen, K. B., Bayat, A., Møller, R. S., Maroun, L. L. & Lund, E. L., Dec 2019, In : Neuropathology and Applied Neurobiology. 45, 7, p. 732-735

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Focal “Idiopathic” Epilepsies of Infancy

Gardella, E. & Cantalupo, G., 2019, Clinical Electroencephalography. Mecarelli, O. (ed.). Springer, p. 431-444

Research output: Chapter in Book/Report/Conference proceedingBook chapterResearchpeer-review