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dr. B.P.C. Koeleman

dr. B.P.C. Koeleman

Associate Professor

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Research Output (291)

CRISPRa-Mediated Upregulation of scn1laa during Early Development Causes Epileptiform Activity and dCas9-Associated Toxicity

Weuring Wout J., Dilevska Ivana, Hoekman Jos, Van De Vondervoort Joep, Koetsier Martijn, Van 'T Slot Ruben H., Braun Kees P.J., Koeleman Bobby P.C. Aug 2021, In: CRISPR Journal. 4 , p. 575-582 8 p.

Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations

Stevelink Remi, Luykx Jurjen J., Lin Bochao D., Leu Costin, Lal Dennis, Smith Alexander W., Schijven Dick, Carpay Johannes A., Rademaker Koen, Rodrigues Baldez Roiza A., Devinsky Orrin, Braun Kees P.J., Jansen Floor E., Smit Dirk J.A., Koeleman Bobby P.C., , Jul 2021, In: Epilepsia. 62 , p. 1518-1527 10 p.

NEXMIF encephalopathy:an X-linked disorder with male and female phenotypic patterns

Stamberger Hannah, Hammer Trine B, Gardella Elena, Vlaskamp Danique R M, Bertelsen Birgitte, Mandelstam Simone, de Lange Iris, Zhang Jing, Myers Candace T, Fenger Christina, Afawi Zaid, Almanza Fuerte Edith P, Andrade Danielle M, Balcik Yunus, Ben Zeev Bruria, Bennett Mark F, Berkovic Samuel F, Isidor Bertrand, Bouman Arjan, Brilstra Eva, Busk Øyvind L, Cairns Anita, Caumes Roseline, Chatron Nicolas, Dale Russell C, de Geus Christa, Edery Patrick, Gill Deepak, Granild-Jensen Jacob Bie, Gunderson Lauren, Gunning Boudewijn, Heimer Gali, Helle Johan R, Hildebrand Michael S, Hollingsworth Georgie, Kharytonov Volodymyr, Klee Eric W, Koeleman Bobby P C, Koolen David A, Korff Christian, Küry Sébastien, Lesca Gaetan, Lev Dorit, Leventer Richard J, Mackay Mark T, Macke Erica L, McEntagart Meriel, Mohammad Shekeeb S, Monin Pauline, Verbeek Nienke, Feb 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23 , p. 363-373 11 p.

GATOR1-related focal cortical dysplasia in epilepsy surgery patients and their families:A possible gradient in severity?

Benova Barbora, Sanders Maurits W.C.B., Uhrova-Meszarosova Anna, Belohlavkova Anezka, Hermanovska Barbora, Novak Vilem, Stanek David, Vlckova Marketa, Zamecnik Josef, Aronica Eleonora, Braun Kees P.J., Koeleman Bobby P.C., Jansen Floor E., Krsek Pavel Jan 2021, In: European Journal of Paediatric Neurology. 30 , p. 88-96 9 p.

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

Carvill Gemma L, Helbig Katherine L, Myers Candace T, Scala Marcello, Huether Robert, Lewis Sara, Kruer Tyler N, Guida Brandon S, Bakhtiari Somayeh, Sebe Joy, Tang Sha, Stickney Heather, Oktay Sehribani Ulusoy, Bhandiwad Ashwin A, Ramsey Keri, Narayanan Vinodh, Feyma Timothy, Rohena Luis O, Accogli Andrea, Severino Mariasavina, Hollingsworth Georgina, Gill Deepak, Depienne Christel, Nava Caroline, Sadleir Lynette G, Caruso Paul A, Lin Angela E, Jansen Floor E, Koeleman Bobby, Brilstra Eva, Willemsen Marjolein H, Kleefstra Tjitske, Sa Joaquim, Mathieu Marie-Laure, Perrin Laurine, Lesca Gaetan, Striano Pasquale, Casari Giorgio, Scheffer Ingrid E, Raible David, Sattlegger Evelyn, Capra Valeria, Padilla-Lopez Sergio, Mefford Heather C, Kruer Michael C Jul 2020, In: Human mutation. 41 , p. 1263-1279 17 p.

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 5 May 2020, In: Genetics in medicine : official journal of the American College of Medical Genetics. 22 , p. 1413-1417 5 p.

Modifier genes in SCN1A-related epilepsy syndromes

de Lange Iris M, Mulder Flip, van 't Slot Ruben, Sonsma Anja C M, van Kempen Marjan J A, Nijman Isaac J, Ernst Robert F, Knoers Nine V A M, Brilstra Eva H, Koeleman Bobby P C 1 Apr 2020, In: Molecular Genetics & Genomic Medicine. 8

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. 1 Jan 2020, In: PLoS ONE. 15 , p. 1-17

Analysis of shared common genetic risk between amyotrophic lateral sclerosis and epilepsy

Schijven Dick, Stevelink Remi, McCormack Mark, van Rheenen Wouter, Luykx Jurjen J., Koeleman Bobby P.C., Veldink Jan H., , , Kenna Kevin 1 Jan 2020, In: Neurobiology of Aging. 92 , p. 153.e1-153.e5

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., 1 Dec 2019, In: Molecular Genetics and Metabolism Reports. 21

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