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Page 1
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Chen S, Abou-Khalil BW, Afawi Z, Ali QZ, Amadori E, Anderson A, Anderson J, Andrade DM, Annesi G, Arslan M, Auce P, Bahlo M, Baker MD, Balagura G, Balestrini S, Banks E, Barba C, Barboza K, Bartolomei F, Bass N, Baum LW, Baumgartner TH, Baykan B, Bebek N, Becker F, Bennett CA, Beydoun A, Bianchini C, Bisulli F, Blackwood D, Blatt I, Borggräfe I, Bosselmann C, Braatz V, Brand H, Brockmann K, Buono RJ, Busch RM, Caglayan SH, Canafoglia L, Canavati C, Castellotti B, Cavalleri GL, Cerrato F, Chassoux F, Cherian C, Cherny SS, Cheung CL, Chou IJ, Chung SK, Churchhouse C, Ciullo V, Clark PO, Cole AJ, Cosico M, Cossette P, Cotsapas C, Cusick C, Daly MJ, Davis LK, Jonghe P, Delanty N, Dennig D, Depondt C, Derambure P, Devinsky O, Di Vito L, Dickerson F, Dlugos DJ, Doccini V, Doherty CP, El-Naggar H, Ellis CA, Epstein L, Evans M, Faucon A, Feng YA, Ferguson L, Ferraro TN, Da Silva IF, Ferri L, Feucht M, Fields MC, Fitzgerald M, Fonferko-Shadrach B, Fortunato F, Franceschetti S, French JA, Freri E, Fu JM, Gabriel S, Gagliardi M, Gambardella A, Gauthier L, Giangregorio T, Gili T, Glauser TA, Goldberg E, Goldman A, Goldstein DB, Granata T, Grant R, Greenberg DA, Guerrini R, Gundogdu-Eken A, Gu… See abstract for full author list ➔ Chen S, et al. medRxiv [Preprint]. 2024 Sep 20:2023.02.22.23286310. doi: 10.1101/2023.02.22.23286310. medRxiv. 2024. Update in: Nat Neurosci. 2024 Oct;27(10):1864-1879. doi: 10.1038/s41593-024-01747-8 PMID: 36865150 Free PMC article. Updated. Preprint.
Birth characteristics and risk of febrile seizures.
Christensen KJ, Dreier JW, Skotte L, Feenstra B, Grove J, Børglum A, Mitrovic M, Cotsapas C, Christensen J. Christensen KJ, et al. Acta Neurol Scand. 2021 Jul;144(1):51-57. doi: 10.1111/ane.13420. Epub 2021 Apr 6. Acta Neurol Scand. 2021. PMID: 33822360 Free PMC article.
Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events.
Heyne HO, Pajuste FD, Wanner J, Onwuchekwa JID, Mägi R, Palotie A; FinnGen, Estonian Biobank research team; Kälviainen R, Daly MJ. Heyne HO, et al. medRxiv [Preprint]. 2023 Nov 27:2023.11.27.23297542. doi: 10.1101/2023.11.27.23297542. medRxiv. 2023. Update in: Nat Commun. 2024 Jul 25;15(1):6277. doi: 10.1038/s41467-024-50295-z PMID: 38076931 Free PMC article. Updated. Preprint.