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Mutations of DEPDC5 cause autosomal dominant focal epilepsies.
Ishida S, Picard F, Rudolf G, Noé E, Achaz G, Thomas P, Genton P, Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E, Baulac S. Ishida S, et al. Among authors: hirsch e. Nat Genet. 2013 May;45(5):552-5. doi: 10.1038/ng.2601. Epub 2013 Mar 31. Nat Genet. 2013. PMID: 23542701 Free PMC article.
SRPX2 mutations in disorders of language cortex and cognition.
Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, Massacrier A, Valenti MP, Roeckel-Trevisiol N, Jamali S, Beclin C, Seegmuller C, Metz-Lutz MN, Lemainque A, Delepine M, Caloustian C, de Saint Martin A, Bruneau N, Depétris D, Mattéi MG, Flori E, Robaglia-Schlupp A, Lévy N, Neubauer BA, Ravid R, Marescaux C, Berkovic SF, Hirsch E, Lathrop M, Cau P, Szepetowski P. Roll P, et al. Among authors: hirsch e. Hum Mol Genet. 2006 Apr 1;15(7):1195-207. doi: 10.1093/hmg/ddl035. Epub 2006 Feb 23. Hum Mol Genet. 2006. PMID: 16497722
Isolated paroxysmal arousals as focal epilepsy.
Valenti MP, Froelich S, Rudolf G, Thibault A, Chassagnon S, Arzimanoglou A, Hirsch E. Valenti MP, et al. Among authors: hirsch e. Epileptic Disord. 2006 Mar;8(1):45-52. Epileptic Disord. 2006. PMID: 16567325 Free article.
Landau-Kleffner syndrome is not an eponymic badge of ignorance.
Hirsch E, Valenti MP, Rudolf G, Seegmuller C, de Saint Martin A, Maquet P, Wioland N, Metz-Lutz MN, Marescaux C, Arzimanoglou A. Hirsch E, et al. Epilepsy Res. 2006 Aug;70 Suppl 1:S239-47. doi: 10.1016/j.eplepsyres.2006.02.010. Epub 2006 Jun 27. Epilepsy Res. 2006. PMID: 16806832 Review.
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
Lesca G, Boutry-Kryza N, de Toffol B, Milh M, Steschenko D, Lemesle-Martin M, Maillard L, Foletti G, Rudolf G, Nielsen JE, á Rogvi-Hansen B, Erdal J, Mancini J, Thauvin-Robinet C, M'Rrabet A, Ville D, Szepetowski P, Raffo E, Hirsch E, Ryvlin P, Calender A, Genton P. Lesca G, et al. Among authors: hirsch e. Epilepsia. 2010 Sep;51(9):1691-8. doi: 10.1111/j.1528-1167.2010.02692.x. Epub 2010 Aug 5. Epilepsia. 2010. PMID: 20738377 Free article.
1,565 results