Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach von 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.

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NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome von 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.

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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy von 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

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Clinical and genetic correlates of islet-autoimmune signatures in juvenile-onset type 1 diabetes von 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.

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Identification of candidate genes for developmental colour agnosia in a single unique family von 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

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Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes von 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

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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 von 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.

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Uncovering myocardial infarction genetic signatures using GWAS exploration in Saudi and European cohorts von 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.

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Role of the Complement System in Chronic Central Serous Chorioretinopathy: A Genome-Wide Association Study von 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

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Abnormal islet sphingolipid metabolism in type 1 diabetes von 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

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Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy von 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

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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 von 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

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Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy von 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

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Gene Therapies for Monogenic Autism Spectrum Disorders von Weuring, Wout, Geerligs, Jeroen, Koeleman, Bobby P. C.

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De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy von 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.

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Common variation in ISL1 confers genetic susceptibility for human congenital heart disease von 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

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Efficient Computation of Significance Levels for Multiple Associations in Large Studies of Correlated Data, Including Genomewide Association Studies von Dudbridge, Frank, Koeleman, Bobby P.C.

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Testing association of rare genetic variants with resistance to three common antiseizure medications von Wolking, Stefan, Moreau, Claudia, Nies, Anne T., Schaeffeler, Elke, McCormack, Mark, Auce, Pauls, Avbersek, Andreja, Becker, Felicitas, Krenn, Martin, Møller, Rikke S., Nikanorova, Marina, Weber, Yvonne G., Weckhuysen, Sarah, Cavalleri, Gianpiero L., Delanty, Norman, Depondt, Chantal, Johnson, Michael R., Koeleman, Bobby P.C., Kunz, Wolfram S., Marson, Anthony G., Sander, Josemir W., Sills, Graeme J., Striano, Pasquale, Zara, Federico, Zimprich, Fritz, Schwab, Matthias, Krause, Roland, Sisodiya, Sanjay M., Cossette, Patrick, Girard, Simon L., Lerche, Holger

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Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia von 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

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Transfer of regulatory properties from tolerogenic to proinflammatory dendritic cells via induced autoreactive regulatory T cells von Kleijwegt, Fleur S, Laban, Sandra, Duinkerken, Gaby, Joosten, Antoinette M, Koeleman, Bobby P C, Nikolic, Tatjana, Roep, Bart O

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