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CDKL5 alterations lead to early epileptic encephalopathy in both genders.
Liang JS, Shimojima K, Takayama R, Natsume J, Shichiji M, Hirasawa K, Imai K, Okanishi T, Mizuno S, Okumura A, Sugawara M, Ito T, Ikeda H, Takahashi Y, Oguni H, Imai K, Osawa M, Yamamoto T. Liang JS, et al. Epilepsia. 2011 Oct;52(10):1835-42. doi: 10.1111/j.1528-1167.2011.03174.x. Epub 2011 Jul 19. Epilepsia. 2011. PMID: 21770923 Free article.
A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish.
Komoike Y, Shimojima K, Liang JS, Fujii H, Maegaki Y, Osawa M, Fujii S, Higashinakagawa T, Yamamoto T. Komoike Y, et al. Among authors: liang js. J Hum Genet. 2010 Mar;55(3):155-62. doi: 10.1038/jhg.2010.1. Epub 2010 Jan 29. J Hum Genet. 2010. PMID: 20111057
131 results