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Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.
Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N. Saitsu H, et al. Among authors: hoshino h. Am J Hum Genet. 2010 Jun 11;86(6):881-91. doi: 10.1016/j.ajhg.2010.04.013. Epub 2010 May 20. Am J Hum Genet. 2010. PMID: 20493457 Free PMC 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: hoshino h. 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
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: hoshino h. 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: hoshino h. 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.
Efficacy of long-term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series.
Baba S, Okanishi T, Homma Y, Yoshida T, Goto T, Fukasawa T, Kobayashi S, Kamei A, Fujii Y, Hino-Fukuyo N, Yamada K, Daida A, Kawawaki H, Hoshino H, Sejima H, Ishida Y, Okazaki T, Inui T, Kanai S, Motoi H, Itamura S, Nishimura M, Enoki H, Fujimoto A. Baba S, et al. Among authors: hoshino h. Epilepsia Open. 2021 May 28;6(2):402-412. doi: 10.1002/epi4.12497. eCollection 2021 Jun. Epilepsia Open. 2021. PMID: 34095686 Free PMC article.
Langerhans cell histiocytosis with disequilibrium.
Nakamura T, Morimoto N, Goto F, Shioda Y, Hoshino H, Kubota M, Taiji H. Nakamura T, et al. Among authors: hoshino h. Auris Nasus Larynx. 2012 Dec;39(6):627-30. doi: 10.1016/j.anl.2012.01.003. Epub 2012 Feb 10. Auris Nasus Larynx. 2012. PMID: 22326120
Mutations of the SCN1A gene in acute encephalopathy.
Saitoh M, Shinohara M, Hoshino H, Kubota M, Amemiya K, Takanashi JL, Hwang SK, Hirose S, Mizuguchi M. Saitoh M, et al. Among authors: hoshino h. Epilepsia. 2012 Mar;53(3):558-64. doi: 10.1111/j.1528-1167.2011.03402.x. Epub 2012 Feb 6. Epilepsia. 2012. PMID: 22309220 Free article.
925 results