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De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium. Suls A, et al. Among authors: de jonghe p, de witte pa. Am J Hum Genet. 2013 Nov 7;93(5):967-75. doi: 10.1016/j.ajhg.2013.09.017. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207121 Free PMC article.
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
Optimization and pharmacological validation of a leukocyte migration assay in zebrafish larvae for the rapid in vivo bioactivity analysis of anti-inflammatory secondary metabolites.
Cordero-Maldonado ML, Siverio-Mota D, Vicet-Muro L, Wilches-Arizábala IM, Esguerra CV, de Witte PA, Crawford AD. Cordero-Maldonado ML, et al. Among authors: de witte pa. PLoS One. 2013 Oct 4;8(10):e75404. doi: 10.1371/journal.pone.0075404. eCollection 2013. PLoS One. 2013. PMID: 24124487 Free PMC article.
228 results