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Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2.
Akamine S, Sagata N, Sakai Y, Kato TA, Nakahara T, Matsushita Y, Togao O, Hiwatashi A, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T, Sawa A, Kano S, Furue M, Kanba S, Shaw CA, Ohga S. Akamine S, et al. Among authors: ishizaki y. Epilepsia Open. 2017 Nov 23;3(1):81-85. doi: 10.1002/epi4.12085. eCollection 2018 Mar. Epilepsia Open. 2017. PMID: 29588991 Free PMC article.
Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome.
Sakai Y, Souzaki R, Yamamoto H, Matsushita Y, Nagata H, Ishizaki Y, Torisu H, Oda Y, Taguchi T, Shaw CA, Hara T. Sakai Y, et al. Among authors: ishizaki y. BMC Med Genomics. 2014 Apr 22;7:19. doi: 10.1186/1755-8794-7-19. BMC Med Genomics. 2014. PMID: 24755370 Free PMC article.
De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.
Kanemasa H, Fukai R, Sakai Y, Torio M, Miyake N, Lee S, Ono H, Akamine S, Nishiyama K, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T. Kanemasa H, et al. Among authors: ishizaki y. BMC Neurol. 2016 Sep 15;16:174. doi: 10.1186/s12883-016-0680-6. BMC Neurol. 2016. PMID: 27634470 Free PMC article.
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.
Akamine S, Ishizaki Y, Sakai Y, Torisu H, Fukai R, Miyake N, Ohkubo K, Koga H, Sanefuji M, Sakata A, Kimura M, Yamaguchi S, Sakamoto O, Hara T, Saitsu H, Matsumoto N, Ohga S. Akamine S, et al. Among authors: ishizaki y. Eur J Med Genet. 2018 Aug;61(8):451-454. doi: 10.1016/j.ejmg.2018.03.003. Epub 2018 Mar 3. Eur J Med Genet. 2018. PMID: 29510241
GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons.
Akamine S, Okuzono S, Yamamoto H, Setoyama D, Sagata N, Ohgidani M, Kato TA, Ishitani T, Kato H, Masuda K, Matsushita Y, Ono H, Ishizaki Y, Sanefuji M, Saitsu H, Matsumoto N, Kang D, Kanba S, Nakabeppu Y, Sakai Y, Ohga S. Akamine S, et al. Among authors: ishizaki y. FASEB J. 2020 Dec;34(12):16601-16621. doi: 10.1096/fj.202001113R. Epub 2020 Oct 27. FASEB J. 2020. PMID: 33107105 Free article.
392 results