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Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R; Genomics England Research Consortium; Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM. Martins Custodio H, et al. Among authors: zuberi s. Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111. Brain. 2023. PMID: 37006128 Free PMC article.
The spectrum of SCN1A-related infantile epileptic encephalopathies.
Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A; Infantile Epileptic Encephalopathy Referral Consortium; Sutherland G, Berkovic SF, Mulley JC, Scheffer IE. Harkin LA, et al. Brain. 2007 Mar;130(Pt 3):843-52. doi: 10.1093/brain/awm002. Brain. 2007. PMID: 17347258
Genetics of epilepsy: epilepsy research foundation workshop report.
Sisodiya S, Cross JH, Blümcke I, Chadwick D, Craig J, Crino PB, Debenham P, Delanty N, Elmslie F, Gardiner M, Golden J, Goldstein D, Greenberg DA, Guerrini R, Hanna M, Harris J, Harrison P, Johnson MR, Kirov G, Kullman DM, Makoff A, Marini C, Nabbout R, Nashef L, Noebels JL, Ottman R, Pirmohamed M, Pitkänen A, Scheffer I, Shorvon S, Sills G, Wood N, Zuberi S. Sisodiya S, et al. Among authors: zuberi s. Epileptic Disord. 2007 Jun;9(2):194-236. doi: 10.1684/epd.2007.0107. Epileptic Disord. 2007. PMID: 17525034 Free article.
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.
Catarino CB, Liu JY, Liagkouras I, Gibbons VS, Labrum RW, Ellis R, Woodward C, Davis MB, Smith SJ, Cross JH, Appleton RE, Yendle SC, McMahon JM, Bellows ST, Jacques TS, Zuberi SM, Koepp MJ, Martinian L, Scheffer IE, Thom M, Sisodiya SM. Catarino CB, et al. Among authors: zuberi sm. Brain. 2011 Oct;134(Pt 10):2982-3010. doi: 10.1093/brain/awr129. Epub 2011 Jun 29. Brain. 2011. PMID: 21719429 Free PMC article.
409 results