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Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.
van Harssel JJ, Weckhuysen S, van Kempen MJ, Hardies K, Verbeek NE, de Kovel CG, Gunning WB, van Daalen E, de Jonge MV, Jansen AC, Vermeulen RJ, Arts WF, Verhelst H, Fogarasi A, de Rijk-van Andel JF, Kelemen A, Lindhout D, De Jonghe P, Koeleman BP, Suls A, Brilstra EH. van Harssel JJ, et al. Among authors: de kovel cg, de jonghe p, de rijk van andel jf, de jonge mv. Neurogenetics. 2013 Feb;14(1):23-34. doi: 10.1007/s10048-013-0353-1. Epub 2013 Jan 20. Neurogenetics. 2013. PMID: 23334464
A novel GABRG2 mutation associated with febrile seizures.
Audenaert D, Schwartz E, Claeys KG, Claes L, Deprez L, Suls A, Van Dyck T, Lagae L, Van Broeckhoven C, Macdonald RL, De Jonghe P. Audenaert D, et al. Among authors: de jonghe p. Neurology. 2006 Aug 22;67(4):687-90. doi: 10.1212/01.wnl.0000230145.73496.a2. Neurology. 2006. PMID: 16924025 Clinical Trial.
Epilepsy as part of the phenotype associated with ATP1A2 mutations.
Deprez L, Weckhuysen S, Peeters K, Deconinck T, Claeys KG, Claes LR, Suls A, Van Dyck T, Palmini A, Matthijs G, Van Paesschen W, De Jonghe P. Deprez L, et al. Among authors: de jonghe p. Epilepsia. 2008 Mar;49(3):500-8. doi: 10.1111/j.1528-1167.2007.01415.x. Epub 2007 Nov 19. Epilepsia. 2008. PMID: 18028407 Free article.
[Clinical and genetic diagnosis of Dravet syndrome: report of 20 cases].
Siegler Z, Neuwirth M, Hegyi M, Paraicz E, Pálmafy B, Tegzes A, Barsi P, Karcagi V, Claes L, De Jonghe P, Herczegfalvi A, Fogarasi A. Siegler Z, et al. Among authors: de jonghe p. Ideggyogy Sz. 2008 Nov 30;61(11-12):402-8. Ideggyogy Sz. 2008. PMID: 19070316 Hungarian.
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z; EPICURE Consortium; Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF. Dibbens LM, et al. Hum Mol Genet. 2009 Oct 1;18(19):3626-31. doi: 10.1093/hmg/ddp311. Epub 2009 Jul 10. Hum Mol Genet. 2009. PMID: 19592580 Free PMC article.
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
Suls A, Mullen SA, Weber YG, Verhaert K, Ceulemans B, Guerrini R, Wuttke TV, Salvo-Vargas A, Deprez L, Claes LR, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE. Suls A, et al. Among authors: de jonghe p. Ann Neurol. 2009 Sep;66(3):415-9. doi: 10.1002/ana.21724. Ann Neurol. 2009. PMID: 19798636
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.
391 results