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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. Among authors: walley n. Lancet Neurol. 2007 Nov;6(11):970-80. doi: 10.1016/S1474-4422(07)70247-8. Lancet Neurol. 2007. PMID: 17913586
Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation.
Sisodiya SM, Thompson PJ, Need A, Harris SE, Weale ME, Wilkie SE, Michaelides M, Free SL, Walley N, Gumbs C, Gerrelli D, Ruddle P, Whalley LJ, Starr JM, Hunt DM, Goldstein DB, Deary IJ, Moore AT. Sisodiya SM, et al. Among authors: walley n. J Med Genet. 2007 Jun;44(6):373-80. doi: 10.1136/jmg.2006.047407. Epub 2007 Jan 19. J Med Genet. 2007. PMID: 17237123 Free PMC article. Clinical Trial.
HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.
McCormack M, Alfirevic A, Bourgeois S, Farrell JJ, Kasperavičiūtė D, Carrington M, Sills GJ, Marson T, Jia X, de Bakker PI, Chinthapalli K, Molokhia M, Johnson MR, O'Connor GD, Chaila E, Alhusaini S, Shianna KV, Radtke RA, Heinzen EL, Walley N, Pandolfo M, Pichler W, Park BK, Depondt C, Sisodiya SM, Goldstein DB, Deloukas P, Delanty N, Cavalleri GL, Pirmohamed M. McCormack M, et al. Among authors: walley n. N Engl J Med. 2011 Mar 24;364(12):1134-43. doi: 10.1056/NEJMoa1013297. N Engl J Med. 2011. PMID: 21428769 Free PMC article.
Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.
McCormack M, Urban TJ, Shianna KV, Walley N, Pandolfo M, Depondt C, Chaila E, O'Conner GD, Kasperavičiūtė D, Radtke RA, Heinzen EL, Sisodiya SM, Delanty N, Cavalleri GL. McCormack M, et al. Among authors: walley n. Pharmacogenomics. 2012 Mar;13(4):399-405. doi: 10.2217/pgs.11.165. Pharmacogenomics. 2012. PMID: 22379998 Free PMC 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.
Genomic and clinical predictors of lacosamide response in refractory epilepsies.
Heavin SB, McCormack M, Wolking S, Slattery L, Walley N, Avbersek A, Novy J, Sinha SR, Radtke R, Doherty C, Auce P, Craig J, Johnson MR, Koeleman BPC, Krause R, Kunz WS, Marson AG, O'Brien TJ, Sander JW, Sills GJ, Stefansson H, Striano P, Zara F; EPIGEN Consortium; EpiPGX Consortium; Depondt C, Sisodiya S, Goldstein D, Lerche H, Cavalleri GL, Delanty N. Heavin SB, et al. Among authors: walley n. Epilepsia Open. 2019 Sep 25;4(4):563-571. doi: 10.1002/epi4.12360. eCollection 2019 Dec. Epilepsia Open. 2019. PMID: 31819912 Free PMC article.
D-DEMØ, a distinct phenotype caused by ATP1A3 mutations.
Prange L, Pratt M, Herman K, Schiffmann R, Mueller DM, McLean M, Mendez MM, Walley N, Heinzen EL, Goldstein D, Shashi V, Hunanyan A, Pagadala V, Mikati MA. Prange L, et al. Among authors: walley n. Neurol Genet. 2020 Aug 4;6(5):e466. doi: 10.1212/NXG.0000000000000466. eCollection 2020 Oct. Neurol Genet. 2020. PMID: 32802951 Free PMC article.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Schoch K, et al. Among authors: walley n. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.
112 results