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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T. Helbig I, et al. Among authors: genton p. Nat Genet. 2009 Feb;41(2):160-2. doi: 10.1038/ng.292. Epub 2009 Jan 11. Nat Genet. 2009. PMID: 19136953 Free PMC article.
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler EE. Mefford HC, et al. Among authors: genton p. PLoS Genet. 2010 May 20;6(5):e1000962. doi: 10.1371/journal.pgen.1000962. PLoS Genet. 2010. PMID: 20502679 Free PMC article.
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: genton p. 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.
Clinical aspects of juvenile myoclonic epilepsy.
Genton P, Thomas P, Kasteleijn-Nolst Trenité DG, Medina MT, Salas-Puig J. Genton P, et al. Epilepsy Behav. 2013 Jul;28 Suppl 1:S8-14. doi: 10.1016/j.yebeh.2012.10.034. Epilepsy Behav. 2013. PMID: 23756488 Review.
Consensus on diagnosis and management of JME: From founder's observations to current trends.
Kasteleijn-Nolst Trenité DG, Schmitz B, Janz D, Delgado-Escueta AV, Thomas P, Hirsch E, Lerche H, Camfield C, Baykan B, Feucht M, Martínez-Juárez IE, Duron RM, Medina MT, Rubboli G, Jerney J, Hermann B, Yacubian E, Koutroumanidis M, Stephani U, Salas-Puig J, Reed RC, Woermann F, Wandschneider B, Bureau M, Gambardella A, Koepp MJ, Gelisse P, Gurses C, Crespel A, Nguyen-Michel VH, Ferlazzo E, Grisar T, Helbig I, Koeleman BP, Striano P, Trimble M, Buono R, Cossette P, Represa A, Dravet C, Serafini A, Berglund IS, Sisodiya SM, Yamakawa K, Genton P. Kasteleijn-Nolst Trenité DG, et al. Among authors: genton p. Epilepsy Behav. 2013 Jul;28 Suppl 1:S87-90. doi: 10.1016/j.yebeh.2012.11.051. Epilepsy Behav. 2013. PMID: 23756490
Management of juvenile myoclonic epilepsy.
Crespel A, Gelisse P, Reed RC, Ferlazzo E, Jerney J, Schmitz B, Genton P. Crespel A, et al. Among authors: genton p. Epilepsy Behav. 2013 Jul;28 Suppl 1:S81-6. doi: 10.1016/j.yebeh.2013.01.001. Epilepsy Behav. 2013. PMID: 23756489 Review.
217 results