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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
Anticonvulsant activity of bisabolene sesquiterpenoids of Curcuma longa in zebrafish and mouse seizure models.
Orellana-Paucar AM, Serruys AS, Afrikanova T, Maes J, De Borggraeve W, Alen J, León-Tamariz F, Wilches-Arizábala IM, Crawford AD, de Witte PA, Esguerra CV. Orellana-Paucar AM, et al. Among authors: de witte pa, de borggraeve w. Epilepsy Behav. 2012 May;24(1):14-22. doi: 10.1016/j.yebeh.2012.02.020. Epub 2012 Apr 5. Epilepsy Behav. 2012. PMID: 22483646
Integration of Microfractionation, qNMR and zebrafish screening for the in vivo bioassay-guided isolation and quantitative bioactivity analysis of natural products.
Bohni N, Cordero-Maldonado ML, Maes J, Siverio-Mota D, Marcourt L, Munck S, Kamuhabwa AR, Moshi MJ, Esguerra CV, de Witte PA, Crawford AD, Wolfender JL. Bohni N, et al. Among authors: de witte pa. PLoS One. 2013 May 21;8(5):e64006. doi: 10.1371/journal.pone.0064006. Print 2013. PLoS One. 2013. PMID: 23700445 Free PMC article.
229 results