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dc.contributor.authorChen, Siwei
dc.contributor.authorTsai, Meng-Han
dc.contributor.authorTumiene, Birute
dc.contributor.authorTurkdogan, Dilsad
dc.contributor.authorUnnsteinsdóttir, Unnur
dc.contributor.authorUtkus, Algirdas
dc.contributor.authorVaidiswaran, Priya
dc.contributor.authorValton, Luc
dc.contributor.authorvan Baalen, Andreas
dc.contributor.authorVetro, Annalisa
dc.contributor.authorVining, Eileen P. G.
dc.contributor.authorVisscher, Frank
dc.contributor.authorvon Brauchitsch, Sophie
dc.contributor.authorvon Wrede, Randi
dc.contributor.authorWagner, Ryan G.
dc.contributor.authorWeber, Yvonne G.
dc.contributor.authorWeckhuysen, Sarah
dc.contributor.authorWeisenberg, Judith
dc.contributor.authorWeller, Michael
dc.contributor.authorWiddess-Walsh, Peter
dc.contributor.authorWolff, Markus
dc.contributor.authorWolking, Stefan
dc.contributor.authorWu, David
dc.contributor.authorYamakawa, Kazuhiro
dc.contributor.authorYang, Wanling
dc.contributor.authorYapıcı, Zuhal
dc.contributor.authorYücesan, Emrah
dc.contributor.authorZagaglia, Sara
dc.contributor.authorZahnert, Felix
dc.contributor.authorZara, Federico
dc.contributor.authorZhou, Wei
dc.contributor.authorZimprich, Fritz
dc.contributor.authorZsurka, Gábor
dc.contributor.authorZulfiqar Ali, Quratulain
dc.contributor.authorBerkovic, Samuel F.
dc.contributor.authorBeydoun, Ahmad
dc.contributor.authorBianchini, Claudia
dc.contributor.authorBisulli, Francesca
dc.contributor.authorBlatt, Ilan
dc.contributor.authorBobbili, Dheeraj R.
dc.contributor.authorBorggraefe, Ingo
dc.contributor.authorBosselmann, Christian
dc.contributor.authorBraatz, Vera
dc.contributor.authorBradfield, Jonathan P.
dc.contributor.authorBrockmann, Knut
dc.contributor.authorBrody, Lawrence C.
dc.contributor.authorBuono, Russell J.
dc.contributor.authorBusch, Robyn M.
dc.contributor.authorCaglayan, Hande
dc.contributor.authorCampbell, Ellen
dc.contributor.authorCanafoglia, Laura
dc.contributor.authorCanavati, Christina
dc.contributor.authorCascino, Gregory D.
dc.contributor.authorCastellotti, Barbara
dc.contributor.authorCatarino, Claudia B.
dc.contributor.authorCavalleri, Gianpiero L.
dc.contributor.authorCerrato, Felecia
dc.contributor.authorChassoux, Francine
dc.contributor.authorCherny, Stacey S.
dc.contributor.authorCheung, Ching-Lung
dc.contributor.authorChinthapalli, Krishna
dc.contributor.authorChou, I-Jun
dc.contributor.authorChung, Seo-Kyung
dc.contributor.authorChurchhouse, Claire
dc.contributor.authorClark, Peggy O.
dc.contributor.authorCole, Andrew J.
dc.contributor.authorCompston, Alastair
dc.contributor.authorCoppola, Antonietta
dc.contributor.authorCosico, Mahgenn
dc.contributor.authorCossette, Patrick
dc.contributor.authorCraig, John J.
dc.contributor.authorCusick, Caroline
dc.contributor.authorDaly, Mark J.
dc.contributor.authorDavis, Lea K.
dc.contributor.authorde Haan, Gerrit-Jan
dc.contributor.authorDelanty, Norman
dc.contributor.authorDepondt, Chantal
dc.contributor.authorDerambure, Philippe
dc.contributor.authorDevinsky, Orrin
dc.contributor.authorDi Vito, Lidia
dc.contributor.authorDlugos, Dennis J.
dc.contributor.authorDoccini, Viola
dc.contributor.authorDoherty, Colin P.
dc.contributor.authorEl-Naggar, Hany
dc.contributor.authorElger, Christian E.
dc.contributor.authorEllis, Colin A.
dc.contributor.authorEriksson, Johan G.
dc.contributor.authorFaucon, Annika
dc.contributor.authorFeng, Yen-Chen A.
dc.contributor.authorFerguson, Lisa
dc.contributor.authorFerraro, Thomas N.
dc.contributor.authorFerri, Lorenzo
dc.contributor.authorFeucht, Martha
dc.contributor.authorFitzgerald, Mark
dc.contributor.authorFonferko-Shadrach, Beata
dc.contributor.authorFortunato, Francesco
dc.contributor.authorFranceschetti, Silvana
dc.contributor.authorFranke, Andre
dc.contributor.authorFrench, Jacqueline A.
dc.contributor.authorFreri, Elena
dc.contributor.authorGagliardi, Monica
dc.contributor.authorGambardella, Antonio
dc.contributor.authorGeller, Eric B.
dc.contributor.authorGiangregorio, Tania
dc.contributor.authorGjerstad, Leif
dc.contributor.authorGlauser, Tracy
dc.contributor.authorGoldberg, Ethan
dc.contributor.authorGoldman, Alicia
dc.contributor.authorGranata, Tiziana
dc.contributor.authorGreenberg, David A.
dc.contributor.authorGuerrini, Renzo
dc.contributor.authorGupta, Namrata
dc.contributor.authorHaas, Kevin F.
dc.contributor.authorHakonarson, Hakon
dc.contributor.authorHallmann, Kerstin
dc.contributor.authorHassanin, Emadeldin
dc.contributor.authorHegde, Manu
dc.contributor.authorHeinzen, Erin L.
dc.contributor.authorHelbig, Ingo
dc.contributor.authorHengsbach, Christian
dc.contributor.authorHeyne, Henrike O.
dc.contributor.authorHirose, Shinichi
dc.contributor.authorHirsch, Edouard
dc.contributor.authorHjalgrim, Helle
dc.contributor.authorHowrigan, Daniel P.
dc.contributor.authorHucks, Donald
dc.contributor.authorHung, Po-Cheng
dc.contributor.authorIacomino, Michele
dc.contributor.authorImbach, Lukas L.
dc.contributor.authorInoue, Yushi
dc.contributor.authorIshii, Atsushi
dc.contributor.authorJamnadas-Khoda, Jennifer
dc.contributor.authorJehi, Lara
dc.contributor.authorJohnson, Michael R.
dc.contributor.authorKälviäinen, Reetta
dc.contributor.authorKamatani, Yoichiro
dc.contributor.authorKanaan, Moien
dc.contributor.authorKanai, Masahiro
dc.contributor.authorKantanen, Anne-Mari
dc.contributor.authorKara, Bülent
dc.contributor.authorKariuki, Symon M.
dc.contributor.authorKasperavičiūte, Dalia
dc.contributor.authorKasteleijn-Nolst Trenite, Dorothee
dc.contributor.authorKato, Mitsuhiro
dc.contributor.authorKegele, Josua
dc.contributor.authorKesim, Yeşim
dc.contributor.authorKhoueiry-Zgheib, Nathalie
dc.contributor.authorKing, Chontelle
dc.contributor.authorKirsch, Heidi E.
dc.contributor.authorKlein, Karl M.
dc.contributor.authorKluger, Gerhard
dc.contributor.authorKnake, Susanne
dc.contributor.authorKnowlton, Robert C.
dc.contributor.authorKoeleman, Bobby P. C.
dc.contributor.authorKorczyn, Amos D.
dc.contributor.authorKoupparis, Andreas
dc.contributor.authorKousiappa, Ioanna
dc.contributor.authorKrause, Roland
dc.contributor.authorKrenn, Martin
dc.contributor.authorKrestel, Heinz
dc.contributor.authorKrey, Ilona
dc.contributor.authorKunz, Wolfram S.
dc.contributor.authorKurki, Mitja I.
dc.contributor.authorKurlemann, Gerhard
dc.contributor.authorKuzniecky, Ruben
dc.contributor.authorKwan, Patrick
dc.contributor.authorLabate, Angelo
dc.contributor.authorLacey, Austin
dc.contributor.authorLal, Dennis
dc.contributor.authorLandoulsi, Zied
dc.contributor.authorLau, Yu-Lung
dc.contributor.authorLauxmann, Stephen
dc.contributor.authorLeech, Stephanie L.
dc.contributor.authorLehesjoki, Anna-Elina
dc.contributor.authorLemke, Johannes R.
dc.contributor.authorLerche, Holger
dc.contributor.authorLesca, Gaetan
dc.contributor.authorLeu, Costin
dc.contributor.authorLewin, Naomi
dc.contributor.authorLewis-Smith, David
dc.contributor.authorLi, Gloria H.-Y.
dc.contributor.authorLi, Qingqin S.
dc.contributor.authorLicchetta, Laura
dc.contributor.authorLin, Kuang-Lin
dc.contributor.authorLindhout, Dick
dc.contributor.authorLinnankivi, Tarja
dc.contributor.authorLopes-Cendes, Iscia
dc.contributor.authorLowenstein, Daniel H.
dc.contributor.authorLui, Colin H. T.
dc.contributor.authorMadia, Francesca
dc.contributor.authorMagnusson, Sigurdur
dc.contributor.authorMarson, Anthony G.
dc.contributor.authorMay, Patrick
dc.contributor.authorMcGraw, Christopher M.
dc.contributor.authorMei, Davide
dc.contributor.authorMills, James L.
dc.contributor.authorMinardi, Raffaella
dc.contributor.authorMirza, Nasir
dc.contributor.authorMøller, Rikke S.
dc.contributor.authorMolloy, Anne M.
dc.contributor.authorMontomoli, Martino
dc.contributor.authorMostacci, Barbara
dc.contributor.authorMuccioli, Lorenzo
dc.contributor.authorMuhle, Hiltrud
dc.contributor.authorMüller-Schlüter, Karen
dc.contributor.authorNajm, Imad M.
dc.contributor.authorNasreddine, Wassim
dc.contributor.authorNeale, Benjamin M.
dc.contributor.authorNeubauer, Bernd
dc.contributor.authorNewton, Charles R. J. C.
dc.contributor.authorNöthen, Markus M.
dc.contributor.authorNothnagel, Michael
dc.contributor.authorNürnberg, Peter
dc.contributor.authorO’Brien, Terence J.
dc.contributor.authorOkada, Yukinori
dc.contributor.authorÓlafsson, Elías
dc.contributor.authorOliver, Karen L.
dc.contributor.authorÖzkara, Çiğdem
dc.contributor.authorPalotie, Aarno
dc.contributor.authorPangilinan, Faith
dc.contributor.authorPapacostas, Savvas S.
dc.contributor.authorParrini, Elena
dc.contributor.authorPato, Carlos N.
dc.contributor.authorPato, Michele T.
dc.contributor.authorPendziwiat, Manuela
dc.contributor.authorPetrovski, Slavé
dc.contributor.authorPickrell, William O.
dc.contributor.authorPinsky, Rebecca
dc.contributor.authorPippucci, Tommaso
dc.contributor.authorPoduri, Annapurna
dc.contributor.authorPondrelli, Federica
dc.contributor.authorPowell, Rob H. W.
dc.contributor.authorPrivitera, Michael
dc.contributor.authorRademacher, Annika
dc.contributor.authorRadtke, Rodney
dc.contributor.authorRagona, Francesca
dc.contributor.authorRau, Sarah
dc.contributor.authorRees, Mark I.
dc.contributor.authorRegan, Brigid M.
dc.contributor.authorReif, Philipp S.
dc.contributor.authorRhelms, Sylvain
dc.contributor.authorRiva, Antonella
dc.contributor.authorRosenow, Felix
dc.contributor.authorRyvlin, Philippe
dc.contributor.authorSaarela, Anni
dc.contributor.authorSadleir, Lynette G.
dc.contributor.authorSander, Josemir W.
dc.contributor.authorSander, Thomas
dc.contributor.authorScala, Marcello
dc.contributor.authorScattergood, Theresa
dc.contributor.authorSchachter, Steven C.
dc.contributor.authorSchankin, Christoph J.
dc.contributor.authorScheffer, Ingrid E.
dc.contributor.authorSchmitz, Bettina
dc.contributor.authorSchoch, Susanne
dc.contributor.authorSchubert-Bast, Susanne
dc.contributor.authorSchulze-Bonhage, Andreas
dc.contributor.authorScudieri, Paolo
dc.contributor.authorSham, Pak
dc.contributor.authorSheidley, Beth R.
dc.contributor.authorShih, Jerry J.
dc.contributor.authorSills, Graeme J.
dc.contributor.authorSisodiya, Sanjay M.
dc.contributor.authorSmith, Michael C.
dc.contributor.authorSmith, Philip E.
dc.contributor.authorSonsma, Anja C. M.
dc.contributor.authorSpeed, Doug
dc.contributor.authorSperling, Michael R.
dc.contributor.authorStefansson, Hreinn
dc.contributor.authorStefansson, Kári
dc.contributor.authorSteinhoff, Bernhard J.
dc.contributor.authorStephani, Ulrich
dc.contributor.authorStewart, William C.
dc.contributor.authorStipa, Carlotta
dc.contributor.authorStriano, Pasquale
dc.contributor.authorStroink, Hans
dc.contributor.authorStrzelczyk, Adam
dc.contributor.authorSurges, Rainer
dc.contributor.authorSuzuki, Toshimitsu
dc.contributor.authorTan, K. Meng
dc.contributor.authorTaneja, R.S.
dc.contributor.authorTanteles, George A.
dc.contributor.authorTaubøll, Erik
dc.contributor.authorThio, Liu Lin
dc.contributor.authorThomas, G. Neil
dc.contributor.authorThomas, Rhys H.
dc.contributor.authorTimonen, Oskari
dc.contributor.authorTinuper, Paolo
dc.contributor.authorTodaro, Marian
dc.contributor.authorStevelink, Remi
dc.contributor.authorCampbell, Ciarán
dc.contributor.authorAbou-Khalil, Bassel
dc.contributor.authorAdesoji, Oluyomi M.
dc.contributor.authorAfawi, Zaid
dc.contributor.authorAmadori, Elisabetta
dc.contributor.authorAnderson, Alison
dc.contributor.authorAnderson, Joseph
dc.contributor.authorAndrade, Danielle M.
dc.contributor.authorAnnesi, Grazia
dc.contributor.authorAuce, Pauls
dc.contributor.authorAvbersek, Andreja
dc.contributor.authorBahlo, Melanie
dc.contributor.authorBaker, Mark D.
dc.contributor.authorBalagura, Ganna
dc.contributor.authorBalestrini, Simona
dc.contributor.authorBarba, Carmen
dc.contributor.authorBarboza, Karen
dc.contributor.authorBartolomei, Fabrice
dc.contributor.authorBast, Thomas
dc.contributor.authorBaum, Larry
dc.contributor.authorBaumgartner, Tobias
dc.contributor.authorBaykan, Betül
dc.contributor.authorBebek, Nerses
dc.contributor.authorBecker, Albert J.
dc.contributor.authorBecker, Felicitas
dc.contributor.authorBennett, Caitlin A.
dc.contributor.authorBerghuis, Bianca
dc.contributor.authorTopaloğlu, Pınar
dc.contributor.authorTozzi, Rossana
dc.date.accessioned2023-10-10T10:54:04Z
dc.date.available2023-10-10T10:54:04Z
dc.date.issued2023
dc.identifier.citationStevelink R., Campbell C., Chen S., Abou-Khalil B., Adesoji O. M., Afawi Z., Amadori E., Anderson A., Anderson J., Andrade D. M., et al., "GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture", Nature Genetics, cilt.55, sa.9, ss.1471-1482, 2023
dc.identifier.issn1061-4036
dc.identifier.othervv_1032021
dc.identifier.otherav_0f124b0b-5c0f-476f-ad34-513cfd6322b8
dc.identifier.urihttp://hdl.handle.net/20.500.12627/189583
dc.identifier.urihttps://avesis.istanbul.edu.tr/api/publication/0f124b0b-5c0f-476f-ad34-513cfd6322b8/file
dc.identifier.urihttps://doi.org/10.1038/s41588-023-01485-w
dc.description.abstractEpilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment.
dc.language.isoeng
dc.subjectSağlık Bilimleri
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectGENETİK VE KALITIM
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectTemel Bilimler
dc.subjectGenetik
dc.subjectTıp
dc.titleGWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
dc.typeMakale
dc.relation.journalNature Genetics
dc.contributor.department, ,
dc.identifier.volume55
dc.identifier.issue9
dc.identifier.startpage1471
dc.identifier.endpage1482
dc.contributor.firstauthorID4551250


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