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Page 1
Early onset epileptic encephalopathy caused by de novo SCN8A mutations.
Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H. Ohba C, et al. Among authors: kubota m. Epilepsia. 2014 Jul;55(7):994-1000. doi: 10.1111/epi.12668. Epub 2014 Jun 2. Epilepsia. 2014. PMID: 24888894 Free article.
Characterization of SPATA5-related encephalopathy in early childhood.
Kurata H, Terashima H, Nakashima M, Okazaki T, Matsumura W, Ohno K, Saito Y, Maegaki Y, Kubota M, Nanba E, Saitsu H, Matsumoto N, Kato M. Kurata H, et al. Among authors: kubota m. Clin Genet. 2016 Nov;90(5):437-444. doi: 10.1111/cge.12813. Epub 2016 Jul 4. Clin Genet. 2016. PMID: 27246907
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. Among authors: kubota m. Epilepsia. 2013 Jul;54(7):1282-7. doi: 10.1111/epi.12200. Epub 2013 Apr 26. Epilepsia. 2013. PMID: 23621294 Free article.
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: kubota m. 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.
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: kubota m. 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.
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: kubota m. 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
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Takata A, et al. Among authors: kubota m. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants.
Kobayashi Y, Tohyama J, Takahashi Y, Goto T, Haginoya K, Inoue T, Kubota M, Fujita H, Honda R, Ito M, Kishimoto K, Nakamura K, Sakai Y, Takanashi JI, Tanaka M, Tanda K, Tominaga K, Yoshioka S, Kato M, Nakashima M, Saitsu H, Matsumoto N. Kobayashi Y, et al. Among authors: kubota m. Brain Dev. 2021 Apr;43(4):505-514. doi: 10.1016/j.braindev.2020.12.006. Epub 2021 Jan 9. Brain Dev. 2021. PMID: 33436160 Free article.
Detection of copy number variations in epilepsy using exome data.
Tsuchida N, Nakashima M, Kato M, Heyman E, Inui T, Haginoya K, Watanabe S, Chiyonobu T, Morimoto M, Ohta M, Kumakura A, Kubota M, Kumagai Y, Hamano SI, Lourenco CM, Yahaya NA, Ch'ng GS, Ngu LH, Fattal-Valevski A, Weisz Hubshman M, Orenstein N, Marom D, Cohen L, Goldberg-Stern H, Uchiyama Y, Imagawa E, Mizuguchi T, Takata A, Miyake N, Nakajima H, Saitsu H, Miyatake S, Matsumoto N. Tsuchida N, et al. Among authors: kubota m. Clin Genet. 2018 Mar;93(3):577-587. doi: 10.1111/cge.13144. Epub 2018 Jan 25. Clin Genet. 2018. PMID: 28940419
2,256 results