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Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.
Fialho D, Schorge S, Pucovska U, Davies NP, Labrum R, Haworth A, Stanley E, Sud R, Wakeling W, Davis MB, Kullmann DM, Hanna MG. Fialho D, et al. Among authors: schorge s. Brain. 2007 Dec;130(Pt 12):3265-74. doi: 10.1093/brain/awm248. Epub 2007 Oct 11. Brain. 2007. PMID: 17932099
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
Matthews E, Labrum R, Sweeney MG, Sud R, Haworth A, Chinnery PF, Meola G, Schorge S, Kullmann DM, Davis MB, Hanna MG. Matthews E, et al. Among authors: schorge s. Neurology. 2009 May 5;72(18):1544-7. doi: 10.1212/01.wnl.0000342387.65477.46. Epub 2008 Dec 31. Neurology. 2009. PMID: 19118277 Free PMC article.
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.
Thor MG, Vivekanandam V, Sampedro-Castañeda M, Tan SV, Suetterlin K, Sud R, Durran S, Schorge S, Kullmann DM, Hanna MG, Matthews E, Männikkö R. Thor MG, et al. Among authors: schorge s. Sci Rep. 2019 Nov 26;9(1):17560. doi: 10.1038/s41598-019-54041-0. Sci Rep. 2019. PMID: 31772215 Free PMC article.
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Brunklaus A, Du J, Steckler F, Ghanty II, Johannesen KM, Fenger CD, Schorge S, Baez-Nieto D, Wang HR, Allen A, Pan JQ, Lerche H, Heyne H, Symonds JD, Zuberi SM, Sanders S, Sheidley BR, Craiu D, Olson HE, Weckhuysen S, DeJonge P, Helbig I, Van Esch H, Busa T, Milh M, Isidor B, Depienne C, Poduri A, Campbell AJ, Dimidschstein J, Møller RS, Lal D. Brunklaus A, et al. Among authors: schorge s. Epilepsia. 2020 Mar;61(3):387-399. doi: 10.1111/epi.16438. Epub 2020 Feb 23. Epilepsia. 2020. PMID: 32090326
77 results