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32 results

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Page 1
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations.
Stevelink R, Luykx JJ, Lin BD, Leu C, Lal D, Smith AW, Schijven D, Carpay JA, Rademaker K, Rodrigues Baldez RA, Devinsky O, Braun KPJ, Jansen FE, Smit DJA, Koeleman BPC; International League Against Epilepsy Consortium on Complex Epilepsies; Epi25 Collaborative. Stevelink R, et al. Epilepsia. 2021 Jul;62(7):1518-1527. doi: 10.1111/epi.16922. Epub 2021 May 18. Epilepsia. 2021. PMID: 34002374 Free PMC article.
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-Eke… See abstract for full author list ➔ Chen S, et al. Among authors: caglayan sh. 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.
Mutations associated with hemophilia B in Turkish patients.
Cağlayan SH, Gökmen Y, Aktuğlu G, Gürgey A, Sommer SS. Cağlayan SH, et al. Hum Mutat. 1997;10(1):76-9. doi: 10.1002/(SICI)1098-1004(1997)10:1<76::AID-HUMU11>3.0.CO;2-X. Hum Mutat. 1997. PMID: 9222764 No abstract available.
De novo 8p23.1 deletion in a patient with absence epilepsy.
Akcakaya NH, Capan ÖY, Schulz H, Sander T, Caglayan SH, Yapıcı Z. Akcakaya NH, et al. Among authors: caglayan sh. Epileptic Disord. 2017 Jun 1;19(2):217-221. doi: 10.1684/epd.2017.0906. Epileptic Disord. 2017. PMID: 28533195
SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations.
Usluer S, Salar S, Arslan M, Yiş U, Kara B, Tektürk P, Baykan B, Meral C, Türkdoğan D, Bebek N, Yalçın Çapan Ö, Gündoğdu Eken A, Çağlayan SH. Usluer S, et al. Among authors: caglayan sh. Seizure. 2016 Jul;39:34-43. doi: 10.1016/j.seizure.2016.05.008. Epub 2016 May 19. Seizure. 2016. PMID: 27236449 Free article.
32 results