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Page 1
Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.
Boothman I, Clayton LM, McCormack M, Driscoll AM, Stevelink R, Moloney P, Krause R, Kunz WS, Diehl S, O'Brien TJ, Sills GJ, de Haan GJ, Zara F, Koeleman BP, Depondt C, Marson AG, Stefansson H, Stefansson K, Craig J, Johnson MR, Striano P, Lerche H, Furney SJ, Delanty N; Consortium EpiPGX; Sisodiya SM, Cavalleri GL. Boothman I, et al. Front Neurosci. 2023 Sep 8;17:1156362. doi: 10.3389/fnins.2023.1156362. eCollection 2023. Front Neurosci. 2023. PMID: 37790589 Free PMC article.
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study.
Cavalleri GL, Weale ME, Shianna KV, Singh R, Lynch JM, Grinton B, Szoeke C, Murphy K, Kinirons P, O'Rourke D, Ge D, Depondt C, Claeys KG, Pandolfo M, Gumbs C, Walley N, McNamara J, Mulley JC, Linney KN, Sheffield LJ, Radtke RA, Tate SK, Chissoe SL, Gibson RA, Hosford D, Stanton A, Graves TD, Hanna MG, Eriksson K, Kantanen AM, Kalviainen R, O'Brien TJ, Sander JW, Duncan JS, Scheffer IE, Berkovic SF, Wood NW, Doherty CP, Delanty N, Sisodiya SM, Goldstein DB. Cavalleri GL, et al. Lancet Neurol. 2007 Nov;6(11):970-80. doi: 10.1016/S1474-4422(07)70247-8. Lancet Neurol. 2007. PMID: 17913586
Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis.
Androsova G, Krause R, Borghei M, Wassenaar M, Auce P, Avbersek A, Becker F, Berghuis B, Campbell E, Coppola A, Francis B, Wolking S, Cavalleri GL, Craig J, Delanty N, Koeleman BPC, Kunz WS, Lerche H, Marson AG, Sander JW, Sills GJ, Striano P, Zara F, Sisodiya SM, Depondt C; EpiPGX Consortium. Androsova G, et al. Epilepsia. 2017 Oct;58(10):1734-1741. doi: 10.1111/epi.13871. Epub 2017 Aug 31. Epilepsia. 2017. PMID: 28857179 Free article.
Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.
McCormack M, Gui H, Ingason A, Speed D, Wright GEB, Zhang EJ, Secolin R, Yasuda C, Kwok M, Wolking S, Becker F, Rau S, Avbersek A, Heggeli K, Leu C, Depondt C, Sills GJ, Marson AG, Auce P, Brodie MJ, Francis B, Johnson MR, Koeleman BPC, Striano P, Coppola A, Zara F, Kunz WS, Sander JW, Lerche H, Klein KM, Weckhuysen S, Krenn M, Gudmundsson LJ, Stefánsson K, Krause R, Shear N, Ross CJD, Delanty N; EPIGEN Consortium;; Pirmohamed M, Carleton BC; Canadian Pharmacogenomics Network for Drug Safety;; Cendes F, Lopes-Cendes I, Liao WP, O'Brien TJ, Sisodiya SM; EpiPGX Consortium;; Cherny S, Kwan P, Baum L; International League Against Epilepsy Consortium on Complex Epilepsies;; Cavalleri GL. McCormack M, et al. Neurology. 2018 Jan 23;90(4):e332-e341. doi: 10.1212/WNL.0000000000004853. Epub 2017 Dec 29. Neurology. 2018. PMID: 29288229 Free PMC article.
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-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.
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
Harris RV, Oliver KL, Perucca P, Striano P, Labate A, Riva A, Grinton BE, Reid J, Hutton J, Todaro M, O'Brien TJ, Kwan P, Sadleir LG, Mullen SA, Dazzo E, Crompton DE, Scheffer IE, Bahlo M, Nobile C, Gambardella A, Berkovic SF. Harris RV, et al. Ann Neurol. 2023 Nov;94(5):825-835. doi: 10.1002/ana.26765. Epub 2023 Aug 31. Ann Neurol. 2023. PMID: 37597255 Free PMC article.
Patterns of subregional cerebellar atrophy across epilepsy syndromes: An ENIGMA-Epilepsy study.
Kerestes R, Perry A, Vivash L, O'Brien TJ, Alvim MKM, Arienzo D, Aventurato ÍK, Ballerini A, Baltazar GF, Bargalló N, Bender B, Brioschi R, Bürkle E, Caligiuri ME, Cendes F, de Tisi J, Duncan JS, Engel JP Jr, Foley S, Fortunato F, Gambardella A, Giacomini T, Guerrini R, Hall G, Hamandi K, Ives-Deliperi V, João RB, Keller SS, Kleiser B, Labate A, Lenge M, Marotta C, Martin P, Mascalchi M, Meletti S, Owens-Walton C, Parodi CB, Pascual-Diaz S, Powell D, Rao J, Rebsamen M, Reiter J, Riva A, Rüber T, Rummel C, Scheffler F, Severino M, Silva LS, Staba RJ, Stein DJ, Striano P, Taylor PN, Thomopoulos SI, Thompson PM, Tortora D, Vaudano AE, Weber B, Wiest R, Winston GP, Yasuda CL, Zheng H, McDonald CR, Sisodiya SM, Harding IH; ENIGMA-Epilepsy Working Group. Kerestes R, et al. bioRxiv [Preprint]. 2023 Oct 23:2023.10.21.562994. doi: 10.1101/2023.10.21.562994. bioRxiv. 2023. Update in: Epilepsia. 2024 Apr;65(4):1072-1091. doi: 10.1111/epi.17881. PMID: 37961570 Free PMC article. Updated. Preprint.
957 results