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Page 1
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weiss S, Kashii H, Kusano R, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, Saitsu H. Kato M, et al. Epilepsia. 2013 Jul;54(7):1282-7. doi: 10.1111/epi.12200. Epub 2013 Apr 26. Epilepsia. 2013. PMID: 23621294 Free article.
A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
Abe J, Nakamura K, Nishikomori R, Kato M, Mitsuiki N, Izawa K, Awaya T, Kawai T, Yasumi T, Toyoshima I, Hasegawa K, Ohshima Y, Hiragi T, Sasahara Y, Suzuki Y, Kikuchi M, Osaka H, Ohya T, Ninomiya S, Fujikawa S, Akasaka M, Iwata N, Kawakita A, Funatsuka M, Shintaku H, Ohara O, Ichinose H, Heike T. Abe J, et al. Among authors: kato m. Rheumatology (Oxford). 2014 Mar;53(3):448-58. doi: 10.1093/rheumatology/ket372. Epub 2013 Dec 3. Rheumatology (Oxford). 2014. PMID: 24300241
Efficacy of long term weekly ACTH therapy for intractable epilepsy.
Inui T, Kobayashi T, Kobayashi S, Sato R, Endo W, Kikuchi A, Nakayama T, Uematsu M, Takayanagi M, Kato M, Saitsu H, Matsumoto N, Kure S, Haginoya K. Inui T, et al. Among authors: kato m. Brain Dev. 2015 Apr;37(4):449-54. doi: 10.1016/j.braindev.2014.07.004. Epub 2014 Aug 20. Brain Dev. 2015. PMID: 25149137
TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.
Yokoi S, Ishihara N, Miya F, Tsutsumi M, Yanagihara I, Fujita N, Yamamoto H, Kato M, Okamoto N, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Kojima S, Saitoh S, Kurahashi H, Natsume J. Yokoi S, et al. Among authors: kato m. Sci Rep. 2015 Oct 23;5:15165. doi: 10.1038/srep15165. Sci Rep. 2015. PMID: 26493046 Free PMC article.
9,354 results