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Page 1
Identification of Srp9 as a febrile seizure susceptibility gene.
Hessel EV, de Wit M, Wolterink-Donselaar IG, Karst H, de Graaff E, van Lith HA, de Bruijn E, de Sonnaville S, Verbeek NE, Lindhout D, de Kovel CG, Koeleman BP, van Kempen M, Brilstra E, Cuppen E, Loos M, Spijker SS, Kan AA, Baars SE, van Rijen PC, Gosselaar PH, Groot Koerkamp MJ, Holstege FC, van Duijn C, Vergeer J, Moll HA, Taubøll E, Heuser K, Ramakers GM, Pasterkamp RJ, van Nieuwenhuizen O, Hoogenraad CC, Kas MJ, de Graan PN. Hessel EV, et al. Among authors: de kovel cg, de wit m, de graaff e, de graan pn, de sonnaville s, de bruijn e. Ann Clin Transl Neurol. 2014 Apr;1(4):239-50. doi: 10.1002/acn3.48. Epub 2014 Mar 12. Ann Clin Transl Neurol. 2014. PMID: 25590037 Free PMC article.
Association analysis of BRD2 (RING3) and epilepsy in a Dutch population.
de Kovel CG, Pinto D, de Haan GJ, Kasteleijn-Nolst Trenité DG, Lindhout D, Koeleman BP. de Kovel CG, et al. Among authors: de haan gj. Epilepsia. 2007 Nov;48(11):2191-2. doi: 10.1111/j.1528-1167.2007.01306.x. Epilepsia. 2007. PMID: 17999746 Free article. No abstract available.
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T. de Kovel CG, et al. Among authors: de jonghe p. Brain. 2010 Jan;133(Pt 1):23-32. doi: 10.1093/brain/awp262. Epub 2009 Oct 20. Brain. 2010. PMID: 19843651 Free PMC article.
Genes in the ureteric budding pathway: association study on vesico-ureteral reflux patients.
van Eerde AM, Duran K, van Riel E, de Kovel CG, Koeleman BP, Knoers NV, Renkema KY, van der Horst HJ, Bökenkamp A, van Hagen JM, van den Berg LH, Wolffenbuttel KP, van den Hoek J, Feitz WF, de Jong TP, Giltay JC, Wijmenga C. van Eerde AM, et al. Among authors: de kovel cg, de jong tp. PLoS One. 2012;7(4):e31327. doi: 10.1371/journal.pone.0031327. Epub 2012 Apr 27. PLoS One. 2012. PMID: 22558067 Free PMC article.
Etiologies for seizures around the time of vaccination.
Verbeek NE, Jansen FE, Vermeer-de Bondt PE, de Kovel CG, van Kempen MJ, Lindhout D, Knoers NV, van der Maas NA, Brilstra EH. Verbeek NE, et al. Among authors: de kovel cg. Pediatrics. 2014 Oct;134(4):658-66. doi: 10.1542/peds.2014-0690. Epub 2014 Sep 15. Pediatrics. 2014. PMID: 25225143
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
de Kovel CG, Meisler MH, Brilstra EH, van Berkestijn FM, van 't Slot R, van Lieshout S, Nijman IJ, O'Brien JE, Hammer MF, Estacion M, Waxman SG, Dib-Hajj SD, Koeleman BP. de Kovel CG, et al. Epilepsy Res. 2014 Nov;108(9):1511-8. doi: 10.1016/j.eplepsyres.2014.08.020. Epub 2014 Sep 4. Epilepsy Res. 2014. PMID: 25239001 Free PMC article.
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.
Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium; Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H. Schubert J, et al. Among authors: de kovel cg, de jonghe p, de witte pa. Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2. Nat Genet. 2014. PMID: 25362483
Clinical and genetic analysis of a family with two rare reflex epilepsies.
Kasteleijn-Nolst Trenité DG, Volkers L, Strengman E, Schippers HM, Perquin W, de Haan GJ, Gkountidi AO, van't Slot R, van de Graaf SF, Jocic-Jakubi B, Capovilla G, Covanis A, Parisi P, Veggiotti P, Brinciotti M, Incorpora G, Piccioli M, Cantonetti L, Berkovic SF, Scheffer IE, Brilstra EH, Sonsma AC, Bader AJ, de Kovel CG, Koeleman BP. Kasteleijn-Nolst Trenité DG, et al. Among authors: de kovel cg, de haan gj. Seizure. 2015 Jul;29:90-6. doi: 10.1016/j.seizure.2015.03.020. Epub 2015 Apr 6. Seizure. 2015. PMID: 26076849 Free article.
80 results