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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Journal Article
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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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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Journal Article
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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Journal Article
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly
Hardies, Katia, May, Patrick, Djémié, Tania, Tarta-Arsene, Oana, Deconinck, Tine, Craiu, Dana, Helbig, Ingo, Suls, Arvid, Balling, Rudy, Weckhuysen, Sarah, De Jonghe, Peter, Hirst, Jennifer
Published in Human molecular genetics (15.04.2015)
Published in Human molecular genetics (15.04.2015)
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Effect of vaccinations on seizure risk and disease course in Dravet syndrome
Verbeek, Nienke E, van der Maas, Nicoline A T, Sonsma, Anja C M, Ippel, Elly, Vermeer-de Bondt, Patricia E, Hagebeuk, Eveline, Jansen, Floor E, Geesink, Huibert H, Braun, Kees P, de Louw, Anton, Augustijn, Paul B, Neuteboom, Rinze F, Schieving, Jolanda H, Stroink, Hans, Vermeulen, R Jeroen, Nicolai, Joost, Brouwer, Oebele F, van Kempen, Marjan, de Kovel, Carolien G F, Kemmeren, Jeanet M, Koeleman, Bobby P C, Knoers, Nine V, Lindhout, Dick, Gunning, W Boudewijn, Brilstra, Eva H
Published in Neurology (18.08.2015)
Published in Neurology (18.08.2015)
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Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy
Berghuis, Bianca, de Kovel, Carolien G.F, van Iterson, Loretta, Lamberts, Robert J, Sander, Josemir W, Lindhout, Dick, Koeleman, Bobby P.C
Published in Epilepsy research (01.09.2015)
Published in Epilepsy research (01.09.2015)
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Journal Article
Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa
Yilmaz, Zeynep, Szatkiewicz, Jin P, Crowley, James J, Ancalade, NaEshia, Brandys, Marek K, van Elburg, Annemarie, de Kovel, Carolien G F, Adan, Roger A H, Hinney, Anke, Hebebrand, Johannes, Gratacos, Monica, Fernandez-Aranda, Fernando, Escaramis, Georgia, Gonzalez, Juan R, Estivill, Xavier, Zeggini, Eleftheria, Sullivan, Patrick F, Bulik, Cynthia M
Published in Psychiatric genetics (01.08.2017)
Published in Psychiatric genetics (01.08.2017)
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Journal Article
Clinical and genetic analysis of a family with two rare reflex epilepsies
Kasteleijn-Nolst Trenité, Dorothée G.A, Volkers, Linda, Strengman, Eric, Schippers, Herman M, Perquin, Willem, de Haan, Gerrit-Jan, Gkountidi, Anastasia O, Slot, Ruben van’t, van de Graaf, Stan F, Jocic-Jakubi, Bosanka, Capovilla, Giuseppe, Covanis, Athanasios, Parisi, Pasquale, Veggiotti, Pierangelo, Brinciotti, Mario, Incorpora, Gemma, Piccioli, Marta, Cantonetti, Laura, Berkovic, Samuel F, Scheffer, Ingrid E, Brilstra, Eva H, Sonsma, Anja C.M, Bader, Adri J, de Kovel, Carolien G.F, Koeleman, Bobby P.C
Published in Seizure (London, England) (01.07.2015)
Published in Seizure (London, England) (01.07.2015)
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Journal Article
Detection, Imputation, and Association Analysis of Small Deletions and Null Alleles on Oligonucleotide Arrays
Franke, Lude, de Kovel, Carolien G.F., Aulchenko, Yurii S., Trynka, Gosia, Zhernakova, Alexandra, Hunt, Karen A., Blauw, Hylke M., van den Berg, Leonard H., Ophoff, Roel, Deloukas, Panagiotis, van Heel, David A., Wijmenga, Cisca
Published in American journal of human genetics (01.06.2008)
Published in American journal of human genetics (01.06.2008)
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Journal Article
Corrigendum to “Clinical and genetic analysis of a family with two rare reflex epilepsies” [Seizure – Eur. J. Epilepsy 29 (2015) 90–96]
Trenité, Dorothée G.A. Kasteleijn-Nolst, Volkers, Linda, Strengman, Eric, Schippers, Herman M, Perquin, Willem, de Haan, Gerrit-Jan, Gkountidi, Anastasia O, van’t Slot, Ruben, van de Graaf, Stan F, Jocic-Jakubi, Bosanka, Capovilla, Giuseppe, Covanis, Athanasios, Parisi, Pasquale, Veggiotti, Pierangelo, Brinciotti, Mario, Incorpora, Gemma, Piccioli, Marta, Cantonetti, Laura, Berkovic, Samuel F, Scheffer, Ingrid E, Brilstra, Eva H, Sonsma, Anja C.M, Bader, Adri J, de Kovel, Carolien G.F, Koeleman, Bobby P.C
Published in Seizure (London, England) (01.12.2015)
Published in Seizure (London, England) (01.12.2015)
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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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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