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663 results

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Page 1
Paternal mosaicism of an STXBP1 mutation in OS.
Saitsu H, Hoshino H, Kato M, Nishiyama K, Okada I, Yoneda Y, Tsurusaki Y, Doi H, Miyake N, Kubota M, Hayasaka K, Matsumoto N. Saitsu H, et al. Among authors: hayasaka k. Clin Genet. 2011 Nov;80(5):484-8. doi: 10.1111/j.1399-0004.2010.01575.x. Epub 2010 Nov 10. Clin Genet. 2011. PMID: 21062273
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
Saitsu H, Kato M, Okada I, Orii KE, Higuchi T, Hoshino H, Kubota M, Arai H, Tagawa T, Kimura S, Sudo A, Miyama S, Takami Y, Watanabe T, Nishimura A, Nishiyama K, Miyake N, Wada T, Osaka H, Kondo N, Hayasaka K, Matsumoto N. Saitsu H, et al. Among authors: hayasaka k. Epilepsia. 2010 Dec;51(12):2397-405. doi: 10.1111/j.1528-1167.2010.02728.x. Epub 2010 Sep 30. Epilepsia. 2010. PMID: 20887364 Free article.
Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome.
Saitsu H, Kato M, Shimono M, Senju A, Tanabe S, Kimura T, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. Saitsu H, et al. Among authors: hayasaka k. Clin Genet. 2012 Apr;81(4):399-402. doi: 10.1111/j.1399-0004.2011.01733.x. Epub 2011 Dec 28. Clin Genet. 2012. PMID: 22211739 No abstract available.
De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy.
Saitsu H, Igarashi N, Kato M, Okada I, Kosho T, Shimokawa O, Sasaki Y, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Harada N, Hayasaka K, Matasumoto N. Saitsu H, et al. Among authors: hayasaka k. Am J Med Genet A. 2011 Nov;155A(11):2879-84. doi: 10.1002/ajmg.a.34289. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990267
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.
Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N. Saitsu H, et al. Among authors: hayasaka k. Epilepsia. 2012 Aug;53(8):1441-9. doi: 10.1111/j.1528-1167.2012.03548.x. Epub 2012 Jun 18. Epilepsia. 2012. PMID: 22709267 Free article.
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
Kodera H, Kato M, Nord AS, Walsh T, Lee M, Yamanaka G, Tohyama J, Nakamura K, Nakagawa E, Ikeda T, Ben-Zeev B, Lev D, Lerman-Sagie T, Straussberg R, Tanabe S, Ueda K, Amamoto M, Ohta S, Nonoda Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, King MC, Matsumoto N, Saitsu H. Kodera H, et al. Among authors: hayasaka k. Epilepsia. 2013 Jul;54(7):1262-9. doi: 10.1111/epi.12203. Epub 2013 May 10. Epilepsia. 2013. PMID: 23662938 Free article.
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
Nakamura K, Kato M, Osaka H, Yamashita S, Nakagawa E, Haginoya K, Tohyama J, Okuda M, Wada T, Shimakawa S, Imai K, Takeshita S, Ishiwata H, Lev D, Lerman-Sagie T, Cervantes-Barragán DE, Villarroel CE, Ohfu M, Writzl K, Gnidovec Strazisar B, Hirabayashi S, Chitayat D, Myles Reid D, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Matsumoto N, Saitsu H. Nakamura K, et al. Among authors: hayasaka k. Neurology. 2013 Sep 10;81(11):992-8. doi: 10.1212/WNL.0b013e3182a43e57. Epub 2013 Aug 9. Neurology. 2013. PMID: 23935176
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy.
Nakamura K, Kodera H, Akita T, Shiina M, Kato M, Hoshino H, Terashima H, Osaka H, Nakamura S, Tohyama J, Kumada T, Furukawa T, Iwata S, Shiihara T, Kubota M, Miyatake S, Koshimizu E, Nishiyama K, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Ogata K, Fukuda A, Matsumoto N, Saitsu H. Nakamura K, et al. Among authors: hayasaka k. Am J Hum Genet. 2013 Sep 5;93(3):496-505. doi: 10.1016/j.ajhg.2013.07.014. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993195 Free PMC article.
663 results