NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome
Weuring, Wout J, Singh, Sakshi, Volkers, Linda, Rook, Martin B, van 't Slot, Ruben H, Bosma, Marjolein, Inserra, Marco, Vetter, Irina, Verhoeven-Duif, Nanda M, Braun, Kees P J, Rivara, Mirko, Koeleman, Bobby P C
Published in PloS one (05.03.2020)
Published in PloS one (05.03.2020)
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Uncovering myocardial infarction genetic signatures using GWAS exploration in Saudi and European cohorts
Al-Ali, Amein K., Al-Rubaish, Abdullah M., Alali, Rudaynah A., Almansori, Mohammed S., Al-Jumaan, Mohammed A., Alshehri, Abdullah M., Al-Madan, Mohammed S., Vatte, ChittiBabu, Cherlin, Tess, Young, Sylvia, Verma, Shefali S., Morahan, Grant, Koeleman, Bobby P. C., Keating, Brendan J.
Published in Scientific reports (10.12.2023)
Published in Scientific reports (10.12.2023)
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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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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)
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Novel Association in Chromosome 4q27 Region with Rheumatoid Arthritis and Confirmation of Type 1 Diabetes Point to a General Risk Locus for Autoimmune Diseases
Zhernakova, Alexandra, Alizadeh, Behrooz Z., Bevova, Marianna, van Leeuwen, Miek A., Coenen, Marieke J.H., Franke, Barbara, Franke, Lude, Posthumus, Marcel D., van Heel, David A., van der Steege, Gerrit, Radstake, Timothy R.D.J., Barrera, Pilar, Roep, Bart O., Koeleman, Bobby P.C., Wijmenga, Cisca
Published in American journal of human genetics (01.12.2007)
Published in American journal of human genetics (01.12.2007)
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Common variation in ISL1 confers genetic susceptibility for human congenital heart disease
Stevens, Kristen N, Hakonarson, Hakon, Kim, Cecilia E, Doevendans, Pieter A, Koeleman, Bobby P C, Mital, Seema, Raue, Jennifer, Glessner, Joseph T, Coles, John G, Moreno, Victor, Granger, Anne, Gruber, Stephen B, Gruber, Peter J
Published in PloS one (26.05.2010)
Published in PloS one (26.05.2010)
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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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Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A‐related seizure phenotypes
Lange, Iris M., Gunning, Boudewijn, Sonsma, Anja C. M., Gemert, Lisette, Kempen, Marjan, Verbeek, Nienke E., Nicolai, Joost, Knoers, Nine V. A. M., Koeleman, Bobby P. C., Brilstra, Eva H.
Published in Epilepsia (Copenhagen) (01.06.2018)
Published in Epilepsia (Copenhagen) (01.06.2018)
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Endocrine autoimmune disease: genetics become complex
Wiebolt, Janneke, Koeleman, Bobby P. C., Van Haeften, Timon W.
Published in European journal of clinical investigation (01.12.2010)
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Exome-Wide Association Analysis of Coronary Artery Disease in the Kingdom of Saudi Arabia Population
de Kovel, Carolien G, Mulder, Flip, van Setten, Jessica, van 't Slot, Ruben, Al-Rubaish, Abdullah, Alshehri, Abdullah M, Al Faraidy, Khalid, Al-Ali, Abdullah, Al-Madan, Mohammed, Al Aqaili, Issa, Larbi, Emmanuel, Al-Ali, Rudaynah, Alzahrani, Alhusain, Asselbergs, Folkert W, Koeleman, Bobby P C, Al-Ali, Amein
Published in PloS one (05.02.2016)
Published in PloS one (05.02.2016)
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Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia
Klein, Karl Martin, Pendziwiat, Manuela, Cohen, Rony, Appenzeller, Silke, de Kovel, Carolien G. F., Rosenow, Felix, Koeleman, Bobby P. C., Kuhlenbäumer, Gregor, Sheintuch, Liron, Veksler, Ronel, Friedman, Alon, Afawi, Zaid, Helbig, Ingo
Published in Journal of neurology (01.01.2016)
Published in Journal of neurology (01.01.2016)
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A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation
Bendjilali, Nasrine, Kim, Helen, Weinsheimer, Shantel, Guo, Diana E, Kwok, Pui-Yan, Zaroff, Jonathan G, Sidney, Stephen, Lawton, Michael T, McCulloch, Charles E, Koeleman, Bobby P C, Klijn, Catharina J M, Young, William L, Pawlikowska, Ludmila
Published in PloS one (03.10.2013)
Published in PloS one (03.10.2013)
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Clinical and genetic correlates of islet-autoimmune signatures in juvenile-onset type 1 diabetes
Claessens, Laura A., Wesselius, Joris, van Lummel, Menno, Laban, Sandra, Mulder, Flip, Mul, Dick, Nikolic, Tanja, Aanstoot, Henk-Jan, Koeleman, Bobby P. C., Roep, Bart O.
Published in Diabetologia (01.02.2020)
Published in Diabetologia (01.02.2020)
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Abnormal islet sphingolipid metabolism in type 1 diabetes
Holm, Laurits J., Krogvold, Lars, Hasselby, Jane P., Kaur, Simranjeet, Claessens, Laura A., Russell, Mark A., Mathews, Clayton E., Hanssen, Kristian F., Morgan, Noel G., Koeleman, Bobby P. C., Roep, Bart O., Gerling, Ivan C., Pociot, Flemming, Dahl-Jørgensen, Knut, Buschard, Karsten
Published in Diabetologia (01.07.2018)
Published in Diabetologia (01.07.2018)
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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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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Schmitz, Bettina, Zimprich, Fritz, Nothnagel, Michael, de Haan, Gerrit-Jan, Mefford, Heather C, Weber, Yvonne, Hjalgrim, Helle, Rosenow, Felix, Baker, Carl, Franke, Andre, Wittig, Michael, Steinich, Ines, Lerche, Holger, Eichler, Evan E, Urak, Lydia, Kleefuß-Lie, Ailing A, Romano, Corrado, de Kovel, Carolien, Fichera, Marco, Gaus, Verena, Sharp, Andrew J, Schreiber, Stefan, Malafosse, Alain, Helbig, Ingo, Thomas, Pierre, Muhle, Hiltrud, Klein, Karl M, Genton, Pierre, Guipponi, Michel, Fuchs, Karoline, Sander, Thomas, Visscher, Frank, Elger, Christian E, Koeleman, Bobby P C, Møller, Rikke S, Nürnberg, Peter, Kron, Katherine L, Leu, Costin, Feucht, Martha, Reif, Philipp S, Stephani, Ulrich, Lindhout, Dick, von Spiczak, Sarah, Luciano, Daniela
Published in Nature genetics (01.02.2009)
Published in Nature genetics (01.02.2009)
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Role of the Complement System in Chronic Central Serous Chorioretinopathy: A Genome-Wide Association Study
Schellevis, Rosa L, van Dijk, Elon H C, Breukink, Myrte B, Altay, Lebriz, Bakker, Bjorn, Koeleman, Bobby P C, Kiemeney, Lambertus A, Swinkels, Dorine W, Keunen, Jan E E, Fauser, Sascha, Hoyng, Carel B, den Hollander, Anneke I, Boon, Camiel J F, de Jong, Eiko K
Published in JAMA ophthalmology (01.10.2018)
Published in JAMA ophthalmology (01.10.2018)
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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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De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
Singh, Sakshi, Gupta, Aditi, Zech, Michael, Sigafoos, Ashley N., Clark, Karl J., Dincer, Yasemin, Wagner, Matias, Humberson, Jennifer B., Green, Sarah, van Gassen, Koen, Brandt, Tracy, Schnur, Rhonda E., Millan, Francisca, Si, Yue, Mall, Volker, Winkelmann, Juliane, Gavrilova, Ralitza H., Klee, Eric W., Engleman, Kendra, Safina, Nicole P., Slaugh, Rachel, Bryant, Emily M., Tan, Wen-Hann, Granadillo, Jorge, Misra, Sunita N., Schaefer, G. Bradley, Towner, Shelley, Brilstra, Eva H., Koeleman, Bobby P. C.
Published in Genetics in medicine (01.08.2020)
Published in Genetics in medicine (01.08.2020)
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