A large-scale population study of early life factors influencing left-handedness
de Kovel, Carolien G. F., Carrión-Castillo, Amaia, Francks, Clyde
Published in Scientific reports (24.01.2019)
Published in Scientific reports (24.01.2019)
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De novo mutations in HCN1 cause early infantile epileptic encephalopathy
Nava, Caroline, Dalle, Carine, Rastetter, Agnès, Striano, Pasquale, de Kovel, Carolien G F, Nabbout, Rima, Cancès, Claude, Ville, Dorothée, Brilstra, Eva H, Gobbi, Giuseppe, Raffo, Emmanuel, Bouteiller, Delphine, Marie, Yannick, Trouillard, Oriane, Robbiano, Angela, Keren, Boris, Agher, Dahbia, Roze, Emmanuel, Lesage, Suzanne, Nicolas, Aude, Brice, Alexis, Baulac, Michel, Vogt, Cornelia, El Hajj, Nady, Schneider, Eberhard, Suls, Arvid, Weckhuysen, Sarah, Gormley, Padhraig, Lehesjoki, Anna-Elina, De Jonghe, Peter, Helbig, Ingo, Baulac, Stéphanie, Zara, Federico, Koeleman, Bobby P C, Haaf, Thomas, LeGuern, Eric, Depienne, Christel
Published in Nature genetics (01.06.2014)
Published in Nature genetics (01.06.2014)
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Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
Lemke, Johannes R, Geider, Kirsten, Helbig, Katherine L, Heyne, Henrike O, Schütz, Hannah, Hentschel, Julia, Courage, Carolina, Depienne, Christel, Nava, Caroline, Heron, Delphine, Møller, Rikke S, Hjalgrim, Helle, Lal, Dennis, Neubauer, Bernd A, Nürnberg, Peter, Thiele, Holger, Kurlemann, Gerhard, Arnold, Georgianne L, Bhambhani, Vikas, Bartholdi, Deborah, Pedurupillay, Christeen Ramane J, Misceo, Doriana, Frengen, Eirik, Strømme, Petter, Dlugos, Dennis J, Doherty, Emily S, Bijlsma, Emilia K, Ruivenkamp, Claudia A, Hoffer, Mariette J V, Goldstein, Amy, Rajan, Deepa S, Narayanan, Vinodh, Ramsey, Keri, Belnap, Newell, Schrauwen, Isabelle, Richholt, Ryan, Koeleman, Bobby P C, Sá, Joaquim, Mendonça, Carla, de Kovel, Carolien G F, Weckhuysen, Sarah, Hardies, Katia, De Jonghe, Peter, De Meirleir, Linda, Milh, Mathieu, Badens, Catherine, Lebrun, Marine, Busa, Tiffany, Francannet, Christine, Piton, Amélie, Riesch, Erik, Biskup, Saskia, Vogt, Heinrich, Dorn, Thomas, Helbig, Ingo, Michaud, Jacques L, Laube, Bodo, Syrbe, Steffen
Published in Neurology (07.06.2016)
Published in Neurology (07.06.2016)
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Left-right asymmetry of maturation rates in human embryonic neural development
de Kovel, Carolien G.F., PhD, Lisgo, Steven, PhD, Karlebach, Guy, PhD, Ju, Jia, Msc, Cheng, Gang, Bsc, Fisher, Simon E., DPhil, Francks, Clyde, DPhil
Published in Biological psychiatry (1969) (01.08.2017)
Published in Biological psychiatry (1969) (01.08.2017)
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Genetic analysis of DNA methylation and gene expression levels in whole blood of healthy human subjects
van Eijk, Kristel R, de Jong, Simone, Boks, Marco P M, Langeveld, Terry, Colas, Fabrice, Veldink, Jan H, de Kovel, Carolien G F, Janson, Esther, Strengman, Eric, Langfelder, Peter, Kahn, René S, van den Berg, Leonard H, Horvath, Steve, Ophoff, Roel A
Published in BMC genomics (17.11.2012)
Published in BMC genomics (17.11.2012)
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Subtle left-right asymmetry of gene expression profiles in embryonic and foetal human brains
de Kovel, Carolien G. F., Lisgo, Steven N., Fisher, Simon E., Francks, Clyde
Published in Scientific reports (04.09.2018)
Published in Scientific reports (04.09.2018)
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Evolutionary and Functional Analysis of Celiac Risk Loci Reveals SH2B3 as a Protective Factor against Bacterial Infection
Zhernakova, Alexandra, Elbers, Clara C., Ferwerda, Bart, Romanos, Jihane, Trynka, Gosia, Dubois, Patrick C., de Kovel, Carolien G.F., Franke, Lude, Oosting, Marije, Barisani, Donatella, Bardella, Maria Teresa, Joosten, Leo A.B., Saavalainen, Paivi, van Heel, David A., Catassi, Carlo, Netea, Mihai G., Wijmenga, Cisca
Published in American journal of human genetics (11.06.2010)
Published in American journal of human genetics (11.06.2010)
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Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes
de Kovel, Carolien G F, Syrbe, Steffen, Brilstra, Eva H, Verbeek, Nienke, Kerr, Bronwyn, Dubbs, Holly, Bayat, Allan, Desai, Sonal, Naidu, Sakkubai, Srivastava, Siddharth, Cagaylan, Hande, Yis, Uluc, Saunders, Carol, Rook, Martin, Plugge, Susanna, Muhle, Hiltrud, Afawi, Zaid, Klein, Karl-Martin, Jayaraman, Vijayakumar, Rajagopalan, Ramakrishnan, Goldberg, Ethan, Marsh, Eric, Kessler, Sudha, Bergqvist, Christina, Conlin, Laura K, Krok, Bryan L, Thiffault, Isabelle, Pendziwiat, Manuela, Helbig, Ingo, Polster, Tilman, Borggraefe, Ingo, Lemke, Johannes R, van den Boogaardt, Marie-José, Møller, Rikke S, Koeleman, Bobby P C
Published in JAMA neurology (01.10.2017)
Published in JAMA neurology (01.10.2017)
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Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy
Lal, Dennis, Trucks, Holger, Møller, Rikke S., Hjalgrim, Helle, Koeleman, Bobby P. C., Kovel, Carolien G. F., Visscher, Frank, Weber, Yvonne G., Lerche, Holger, Becker, Felicitas, Schankin, Christoph J., Neubauer, Bernd A., Surges, Rainer, Kunz, Wolfram S., Zimprich, Fritz, Franke, Andre, Illig, Thomas, Ried, Janina S., Leu, Costin, Nürnberg, Peter, Sander, Thomas
Published in Epilepsia (Copenhagen) (01.02.2013)
Published in Epilepsia (Copenhagen) (01.02.2013)
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The phenotypic spectrum of SCN8A encephalopathy
Larsen, Jan, Carvill, Gemma L, Gardella, Elena, Kluger, Gerhard, Schmiedel, Gudrun, Barisic, Nina, Depienne, Christel, Brilstra, Eva, Mang, Yuan, Nielsen, Jens Erik Klint, Kirkpatrick, Martin, Goudie, David, Goldman, Rebecca, Jähn, Johanna A, Jepsen, Birgit, Gill, Deepak, Döcker, Miriam, Biskup, Saskia, McMahon, Jacinta M, Koeleman, Bobby, Harris, Mandy, Braun, Kees, de Kovel, Carolien G F, Marini, Carla, Specchio, Nicola, Djémié, Tania, Weckhuysen, Sarah, Tommerup, Niels, Troncoso, Monica, Troncoso, Ledia, Bevot, Andrea, Wolff, Markus, Hjalgrim, Helle, Guerrini, Renzo, Scheffer, Ingrid E, Mefford, Heather C, Møller, Rikke S
Published in Neurology (03.02.2015)
Published in Neurology (03.02.2015)
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Identification of candidate genes for developmental colour agnosia in a single unique family
Nijboer, Tanja C. W, Hessel, Ellen V. S, van Haaften, Gijs W, van Zandvoort, Martine J, van der Spek, Peter J, Troelstra, Christine, de Kovel, Carolien G. F, Koeleman, Bobby P. C, van der Zwaag, Bert, Brilstra, Eva H, Burbach, J. Peter H
Published in PloS one (06.09.2023)
Published in PloS one (06.09.2023)
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A gene co-expression network in whole blood of schizophrenia patients is independent of antipsychotic-use and enriched for brain-expressed genes
de Jong, Simone, Boks, Marco P M, Fuller, Tova F, Strengman, Eric, Janson, Esther, de Kovel, Carolien G F, Ori, Anil P S, Vi, Nancy, Mulder, Flip, Blom, Jan Dirk, Glenthøj, Birte, Schubart, Chris D, Cahn, Wiepke, Kahn, René S, Horvath, Steve, Ophoff, Roel A
Published in PloS one (27.06.2012)
Published in PloS one (27.06.2012)
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Mapping brain asymmetry in health and disease through the ENIGMA consortium
Kong, Xiang‐Zhen, Postema, Merel C., Guadalupe, Tulio, Kovel, Carolien, Boedhoe, Premika S. W., Hoogman, Martine, Mathias, Samuel R., Rooij, Daan, Schijven, Dick, Glahn, David C., Medland, Sarah E., Jahanshad, Neda, Thomopoulos, Sophia I., Turner, Jessica A., Buitelaar, Jan, Erp, Theo G. M., Franke, Barbara, Fisher, Simon E., Heuvel, Odile A., Schmaal, Lianne, Thompson, Paul M., Francks, Clyde
Published in Human brain mapping (01.01.2022)
Published in Human brain mapping (01.01.2022)
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Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
Schubert, Julian, Siekierska, Aleksandra, Langlois, Mélanie, May, Patrick, Huneau, Clément, Becker, Felicitas, Muhle, Hiltrud, Suls, Arvid, Lemke, Johannes R, de Kovel, Carolien G F, Thiele, Holger, Konrad, Kathryn, Kawalia, Amit, Toliat, Mohammad R, Sander, Thomas, Rüschendorf, Franz, Caliebe, Almuth, Nagel, Inga, Kohl, Bernard, Kecskés, Angela, Jacmin, Maxime, Hardies, Katia, Weckhuysen, Sarah, Riesch, Erik, Dorn, Thomas, Brilstra, Eva H, Baulac, Stephanie, Møller, Rikke S, Hjalgrim, Helle, Koeleman, Bobby P C, Jurkat-Rott, Karin, Lehmann-Horn, Frank, Roach, Jared C, Glusman, Gustavo, Hood, Leroy, Galas, David J, Martin, Benoit, de Witte, Peter A M, Biskup, Saskia, De Jonghe, Peter, Helbig, Ingo, Balling, Rudi, Nürnberg, Peter, Crawford, Alexander D, Esguerra, Camila V, Weber, Yvonne G, Lerche, Holger
Published in Nature genetics (01.12.2014)
Published in Nature genetics (01.12.2014)
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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van ‘t Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C
Published in Journal of medical genetics (01.12.2016)
Published in Journal of medical genetics (01.12.2016)
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Journal Article
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy
de Kovel, Carolien G.F, Meisler, Miriam H, Brilstra, Eva H, van Berkestijn, Frederique M.C, Slot, Ruben van ‘t, van Lieshout, Stef, Nijman, Isaac J, O’Brien, Janelle E, Hammer, Michael F, Estacion, Mark, Waxman, Stephen G, Dib-Hajj, Sulayman D, Koeleman, Bobby P.C
Published in Epilepsy research (01.11.2014)
Published in Epilepsy research (01.11.2014)
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CHD2 variants are a risk factor for photosensitivity in epilepsy
Galizia, Elizabeth C, Myers, Candace T, Leu, Costin, de Kovel, Carolien G F, Afrikanova, Tatiana, Cordero-Maldonado, Maria Lorena, Martins, Teresa G, Jacmin, Maxime, Drury, Suzanne, Krishna Chinthapalli, V, Muhle, Hiltrud, Pendziwiat, Manuela, Sander, Thomas, Ruppert, Ann-Kathrin, Møller, Rikke S, Thiele, Holger, Krause, Roland, Schubert, Julian, Lehesjoki, Anna-Elina, Nürnberg, Peter, Lerche, Holger, Palotie, Aarno, Coppola, Antonietta, Striano, Salvatore, Gaudio, Luigi Del, Boustred, Christopher, Schneider, Amy L, Lench, Nicholas, Jocic-Jakubi, Bosanka, Covanis, Athanasios, Capovilla, Giuseppe, Veggiotti, Pierangelo, Piccioli, Marta, Parisi, Pasquale, Cantonetti, Laura, Sadleir, Lynette G, Mullen, Saul A, Berkovic, Samuel F, Stephani, Ulrich, Helbig, Ingo, Crawford, Alexander D, Esguerra, Camila V, Kasteleijn-Nolst Trenité, Dorothee G A, Koeleman, Bobby P C, Mefford, Heather C, Scheffer, Ingrid E, Sisodiya, Sanjay M
Published in Brain (London, England : 1878) (01.05.2015)
Published in Brain (London, England : 1878) (01.05.2015)
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Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
Hardies, Katia, de Kovel, Carolien G F, Weckhuysen, Sarah, Asselbergh, Bob, Geuens, Thomas, Deconinck, Tine, Azmi, Abdelkrim, May, Patrick, Brilstra, Eva, Becker, Felicitas, Barisic, Nina, Craiu, Dana, Braun, Kees P J, Lal, Dennis, Thiele, Holger, Schubert, Julian, Weber, Yvonne, van 't Slot, Ruben, Nürnberg, Peter, Balling, Rudi, Timmerman, Vincent, Lerche, Holger, Maudsley, Stuart, Helbig, Ingo, Suls, Arvid, Koeleman, Bobby P C, De Jonghe, Peter
Published in Brain (London, England : 1878) (01.11.2015)
Published in Brain (London, England : 1878) (01.11.2015)
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Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach
Boerma, Ragna S., Braun, Kees P., van de Broek, Maarten P. H., van Berkestijn, Frederique M. C., Swinkels, Marielle E., Hagebeuk, Eveline O., Lindhout, Dick, van Kempen, Marjan, Boon, Maartje, Nicolai, Joost, de Kovel, Carolien G., Brilstra, Eva H., Koeleman, Bobby P. C.
Published in Neurotherapeutics (01.01.2016)
Published in Neurotherapeutics (01.01.2016)
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