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Page 1
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. 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.
Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus.
Sakai Y, Ohkubo K, Matsushita Y, Akamine S, Ishizaki Y, Torisu H, Ihara K, Sanefuji M, Kim MS, Lee KU, Shaw CA, Lim J, Nakabeppu Y, Hara T. Sakai Y, et al. Among authors: akamine s. Eur J Med Genet. 2013 Sep;56(9):475-83. doi: 10.1016/j.ejmg.2013.06.009. Epub 2013 Jul 5. Eur J Med Genet. 2013. PMID: 23832106
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, Nakamura K, Tsurusaki Y, Nakashima M, Miyake N, Shiina M, Ogata K, Matsumoto N. Saitsu H, et al. Among authors: akamine s. Eur J Hum Genet. 2016 Jan;24(1):129-34. doi: 10.1038/ejhg.2015.92. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966631 Free PMC article.
Corrigendum: Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice.
Matsushita Y, Sakai Y, Shimmura M, Shigeto H, Nishio M, Akamine S, Sanefuji M, Ishizaki Y, Torisu H, Nakabeppu Y, Suzuki A, Takada H, Hara T. Matsushita Y, et al. Among authors: akamine s. Sci Rep. 2016 Jun 10;6:27164. doi: 10.1038/srep27164. Sci Rep. 2016. PMID: 27282259 Free PMC article. No abstract available.
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: akamine s. BMC Neurol. 2016 Sep 15;16:174. doi: 10.1186/s12883-016-0680-6. BMC Neurol. 2016. PMID: 27634470 Free PMC article.
Transient dysautonomia in an acute phase of encephalopathy with biphasic seizures and late reduced diffusion.
Ichimiya Y, Kaku N, Sakai Y, Yamashita F, Matsuoka W, Muraoka M, Akamine S, Mizuguchi S, Torio M, Motomura Y, Hirata Y, Ishizaki Y, Sanefuji M, Torisu H, Takada H, Maehara Y, Ohga S. Ichimiya Y, et al. Among authors: akamine s. Brain Dev. 2017 Aug;39(7):621-624. doi: 10.1016/j.braindev.2017.03.023. Epub 2017 Apr 13. Brain Dev. 2017. PMID: 28413125
155 results