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Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
EPICURE Consortium; Leu C, de Kovel CG, Zara F, Striano P, Pezzella M, Robbiano A, Bianchi A, Bisulli F, Coppola A, Giallonardo AT, Beccaria F, Trenité DK, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Kleefuss-Lie AA, Hallman K, Kunz WS, Elger CE, Muhle H, Stephani U, Møller RS, Hjalgrim H, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Nabbout R, Baulac S, Leguern E, Serratosa JM, Rosenow F, Feucht M, Unterberger I, Covanis A, Suls A, Weckhuysen S, Kaneva R, Caglayan H, Turkdogan D, Baykan B, Bebek N, Ozbek U, Hempelmann A, Schulz H, Rüschendorf F, Trucks H, Nürnberg P, Avanzini G, Koeleman BP, Sander T. EPICURE Consortium, et al. Among authors: stephani u. Epilepsia. 2012 Feb;53(2):308-18. doi: 10.1111/j.1528-1167.2011.03379.x. Epub 2012 Jan 13. Epilepsia. 2012. PMID: 22242659 Free article.
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.
Lal D, Trucks H, Møller RS, Hjalgrim H, Koeleman BP, de Kovel CG, Visscher F, Weber YG, Lerche H, Becker F, Schankin CJ, Neubauer BA, Surges R, Kunz WS, Zimprich F, Franke A, Illig T, Ried JS, Leu C, Nürnberg P, Sander T; EMINet Consortium; EPICURE Consortium. Lal D, et al. Epilepsia. 2013 Feb;54(2):265-71. doi: 10.1111/epi.12084. Epub 2013 Jan 25. Epilepsia. 2013. PMID: 23350840 Free article.
Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial.
Sullivan J, Lagae L, Cross JH, Devinsky O, Guerrini R, Knupp KG, Laux L, Nikanorova M, Polster T, Talwar D, Ceulemans B, Nabbout R, Farfel GM, Galer BS, Gammaitoni AR, Lock M, Agarwal A, Scheffer IE; FAiRE DS Study Group. Sullivan J, et al. Epilepsia. 2023 Oct;64(10):2653-2666. doi: 10.1111/epi.17737. Epub 2023 Aug 17. Epilepsia. 2023. PMID: 37543865
Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.
Knierim E, Vogt J, Kintscher M, Ponomarenko A, Baumgart J, Beed P, Korotkova T, Trimbuch T, Panzer A, Steinlein OK, Stephani U, Escayg A, Koko M, Liu Y, Lerche H, Schmitz D, Nitsch R, Schuelke M. Knierim E, et al. Among authors: stephani u. Cereb Cortex. 2023 Jun 8;33(12):7454-7467. doi: 10.1093/cercor/bhad051. Cereb Cortex. 2023. PMID: 36977636
279 results