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Page 1
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, Vintan MA, Symonds J, Andrew J, Arzimanoglou A, Delima S, Gallois J, Hanrahan D, Lesca G, MacLeod S, Marjanovic D, McTague A, Nuñez-Enamorado N, Perez-Palma E, Scott Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U, Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS, Mantegazza M, Cestèle S. Brunklaus A, et al. Among authors: scheffer ie. Brain. 2022 Nov 21;145(11):3816-3831. doi: 10.1093/brain/awac210. Brain. 2022. PMID: 35696452 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. Among authors: scheffer ie. Brain. 2007 Mar;130(Pt 3):843-52. doi: 10.1093/brain/awm002. Brain. 2007. PMID: 17347258
Lack of replication of association between scn1a SNP and febrile seizures.
Petrovski S, Scheffer IE, Sisodiya SM, O'Brien TJ, Berkovic SF; EPIGEN Consortium. Petrovski S, et al. Among authors: scheffer ie. Neurology. 2009 Dec 1;73(22):1928-30. doi: 10.1212/WNL.0b013e3181c3fd6f. Neurology. 2009. PMID: 19949041 Free PMC article. No abstract available.
Milder phenotypes of glucose transporter type 1 deficiency syndrome.
Anand G, Padeniya A, Hanrahan D, Scheffer H, Zaiwalla Z, Cox D, Mann N, Hewertson J, Price S, Nemeth A, Arsov T, Scheffer I, Jayawant S, Pike M, McShane T. Anand G, et al. Dev Med Child Neurol. 2011 Jul;53(7):664-8. doi: 10.1111/j.1469-8749.2011.03949.x. Epub 2011 Mar 24. Dev Med Child Neurol. 2011. PMID: 21649651 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: scheffer ie. Brain. 2011 Oct;134(Pt 10):2982-3010. doi: 10.1093/brain/awr129. Epub 2011 Jun 29. Brain. 2011. PMID: 21719429 Free PMC article.
658 results