De novo mutations in HCN1 cause early infantile epileptic encephalopathy
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Published in Nature genetics (01.06.2014)
Published in Nature genetics (01.06.2014)
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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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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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Association analysis of myosin IXB and type 1 diabetes
Persengiev, Stephan, Koeleman, Bobby P.C, Downes, Kate, Valdigem, Gustavo, van der Slik, Arno R, Eerligh, Peter, Monsuur, Alienke, Bruining, G. Jan, Wijmenga, Cisca, Todd, John A, Roep, Bart O, Alizadeh, Behrooz Z
Published in Human immunology (01.06.2010)
Published in Human immunology (01.06.2010)
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Consensus on diagnosis and management of JME: From founder's observations to current trends
Kasteleijn- Nolst Trenité, Dorothée G.A, Schmitz, Bettina, Janz, Dieter, Delgado-Escueta, Antonio V, Thomas, Pierre, Hirsch, Edouard, Lerche, Holger, Camfield, Carol, Baykan, Betul, Feucht, Martha, Martínez-Juárez, Iris E, Duron, Reyna M, Medina, Marco T, Rubboli, Guido, Jerney, Judith, Hermann, Bruce, Yacubian, Elza, Koutroumanidis, Michael, Stephani, Ulrich, Salas-Puig, Javier, Reed, Ronald C, Woermann, Friedrich, Wandschneider, Britta, Bureau, Michelle, Gambardella, Antonio, Koepp, Matthias J, Gelisse, Philippe, Gurses, Cardan, Crespel, Arielle, Nguyen-Michel, Vi Huong, Ferlazzo, Edoardo, Grisar, Thierry, Helbig, Ingo, Koeleman, Bobby P.C, Striano, Pasquale, Trimble, Michael, Buono, Russel, Cossette, Patrick, Represa, Alfonso, Dravet, Charlotte, Serafini, Anna, Berglund, Ivanka Savic, Sisodiya, Sanjay M, Yamakawa, Kazuhiro, Genton, Pierre
Published in Epilepsy & behavior (01.07.2013)
Published in Epilepsy & behavior (01.07.2013)
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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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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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The HLA-DPB1–Associated Component of the IDDM1 and Its Relationship to the Major Loci HLA-DQB1, -DQA1, and -DRB1
CUCCA, Francesco, DUDBRIDGE, Frank, GILCHRIST, Frances, CORDELL, Heather, WELSH, Ken, TODD, John A, LODDO, Miriam, MULARGIA, Anna P, LAMPIS, Rosannna, ANGIUS, Efisio, DE VIRGILIIS, Stefano, KOELEMAN, Bobby P. C, BAIN, Stephen C, BARNETT, Anthony H
Published in Diabetes (New York, N.Y.) (01.05.2001)
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Oral microbiota analyses of Saudi sickle cell anemics with dental caries
Alyousef, Yousef M., Alonaizan, Faisal A., Alsulaiman, Ahmed A., Aldarwish, Mohammed I., Alali, Ali A., Almasood, Naif N., Vatte, Chittibabu, Cyrus, Cyril, Habara, Alawi H., Koeleman, Bobby P.C.
Published in International dental journal (01.02.2023)
Published in International dental journal (01.02.2023)
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Corrigendum to ‘Oral microbiota analyses of Saudi sickle cell anemics with dental caries’ International Dental Journal, 73/1, February 2023, Pages 144-150
Alyousef, Yousef M., Alonaizan, Faisal A., Alsulaiman, Ahmed A., Abukabbos, Halima, Aldarwish, Mohammed I., Alali, Ali A., Almasood, Naif N., Vatte, Chittibabu, Cyrus, Cyril, Habara, Alawi H., Koeleman, Bobby P.C.
Published in International dental journal (01.06.2023)
Published in International dental journal (01.06.2023)
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The quest for Juvenile Myoclonic Epilepsy genes
Delgado-Escueta, Antonio V, Koeleman, Bobby P.C, Bailey, Julia N, Medina, Marco T, Durón, Reyna M
Published in Epilepsy & behavior (01.07.2013)
Published in Epilepsy & behavior (01.07.2013)
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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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Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy
Silvennoinen, Katri, Lange, Nikola, Zagaglia, Sara, Balestrini, Simona, Androsova, Ganna, Wassenaar, Merel, Auce, Pauls, Avbersek, Andreja, Becker, Felicitas, Berghuis, Bianca, Campbell, Ellen, Coppola, Antonietta, Francis, Ben, Wolking, Stefan, Cavalleri, Gianpiero L., Craig, John, Delanty, Norman, Johnson, Michael R., Koeleman, Bobby P. C., Kunz, Wolfram S., Lerche, Holger, Marson, Anthony G., O’Brien, Terence J., Sander, Josemir W., Sills, Graeme J., Striano, Pasquale, Zara, Federico, Palen, Job, Krause, Roland, Depondt, Chantal, Sisodiya, Sanjay M., Brodie, Martin J., Chinthapalli, Krishna, de Haan, Gerrit‐Jan, Doherty, Colin P., Heavin, Sinead, McCormack, Mark, Petrovski, Slavé, Sargsyan, Narek, Slattery, Lisa, Willis, Joseph
Published in Epilepsia open (01.09.2019)
Published in Epilepsia open (01.09.2019)
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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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KIR in type 1 diabetes: Disparate distribution of activating and inhibitory natural killer cell receptors in patients versus HLA-matched control subjects
VAN DER SLIK, Arno R, KOELEMAN, Bobby P. C, VERDUIJN, Willem, BRUINING, G. Jan, ROEP, Bart O, GIPHART, Marius J
Published in Diabetes (New York, N.Y.) (01.10.2003)
Published in Diabetes (New York, N.Y.) (01.10.2003)
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Association of Human Connexin40 Gene Polymorphisms With Atrial Vulnerability as a Risk Factor for Idiopathic Atrial Fibrillation
Firouzi, Mehran, Ramanna, Hemanth, Kok, Bart, Jongsma, Habo J, Koeleman, Bobby P.C, Doevendans, Pieter A, Groenewegen, W Antoinette, Hauer, Richard N.W
Published in Circulation Research (20.08.2004)
Published in Circulation Research (20.08.2004)
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Epilepsy surgery in patients with genetic refractory epilepsy: A systematic review
Stevelink, R, Sanders, Maurits W.C.B, Tuinman, Maarten, Koeleman, Bobby P.C, Brilstra, Eva H, Jansen, Floor E, Braun, Kees P.J
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Modifier genes in SCN1A‐related epilepsy syndromes
de Lange, Iris M., Mulder, Flip, Slot, Ruben, Sonsma, Anja C. M., Kempen, Marjan J. A., Nijman, Isaac J., Ernst, Robert F., Knoers, Nine V. A. M., Brilstra, Eva H., Koeleman, Bobby P. C.
Published in Molecular genetics & genomic medicine (01.04.2020)
Published in Molecular genetics & genomic medicine (01.04.2020)
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Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy
Stevelink, Remi, Pangilinan, Faith, Jansen, Floor E., Braun, Kees P.J., Molloy, Anne M., Brody, Lawrence C., Koeleman, Bobby P.C.
Published in Molecular genetics and metabolism reports (01.12.2019)
Published in Molecular genetics and metabolism reports (01.12.2019)
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