Sakai Y - Search Results

1

Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.

Sonoda Y, Fujita A, Torio M, Mukaino T, Sakata A, Matsukura M, Yonemoto K, Hatae K, Ichimiya Y, Chong PF, Ochiai M, Wada Y, Kadoya M, Okamoto N, Murakami Y, Suzuki T, Isobe N, Shigeto H, Matsumoto N, Sakai Y, Ohga S. Sonoda Y, et al. Among authors: sakai y. Eur J Med Genet. 2024 Feb;67:104895. doi: 10.1016/j.ejmg.2023.104895. Epub 2023 Dec 7. Eur J Med Genet. 2024. PMID: 38070824 Free article. Review.

2

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. 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

3

A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum.

Chong PF, Haraguchi K, Torio M, Kirino M, Ogata R, Matsukura M, Sakai Y, Ishizaki Y, Yamamoto T, Kira R. Chong PF, et al. Among authors: sakai y. Brain Dev. 2015 Jan;37(1):171-4. doi: 10.1016/j.braindev.2014.02.007. Epub 2014 Mar 17. Brain Dev. 2015. PMID: 24650581

4

Periodic Epileptiform Discharges in Children With Advanced Stages of Progressive Myoclonic Epilepsy.

Isobe N, Sakai Y, Kira R, Sanefuji M, Ishizaki Y, Sakata A, Sasazuki M, Torio M, Akamine S, Torisu H, Hara T. Isobe N, et al. Among authors: sakai y. Clin EEG Neurosci. 2016 Oct;47(4):317-323. doi: 10.1177/1550059415579767. Epub 2015 Mar 30. Clin EEG Neurosci. 2016. PMID: 25828483

5

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: sakai y. 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.

6

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.

Fukai R, Saitsu H, Okamoto N, Sakai Y, Fattal-Valevski A, Masaaki S, Kitai Y, Torio M, Kojima-Ishii K, Ihara K, Chernuha V, Nakashima M, Miyatake S, Tanaka F, Miyake N, Matsumoto N. Fukai R, et al. Among authors: sakai y. J Hum Genet. 2016 May;61(5):451-5. doi: 10.1038/jhg.2015.163. Epub 2016 Jan 14. J Hum Genet. 2016. PMID: 26763878

7

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.

Fukai R, Saitsu H, Tsurusaki Y, Sakai Y, Haginoya K, Takahashi K, Hubshman MW, Okamoto N, Nakashima M, Tanaka F, Miyake N, Matsumoto N. Fukai R, et al. Among authors: sakai y. J Hum Genet. 2016 May;61(5):381-7. doi: 10.1038/jhg.2016.1. Epub 2016 Jan 28. J Hum Genet. 2016. PMID: 26818738 Review.

8

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: sakai y. Sci Rep. 2016 Mar 10;6:22991. doi: 10.1038/srep22991. Sci Rep. 2016. PMID: 26961412 Free PMC article.

9

De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy.

Sakai Y, Fukai R, Matsushita Y, Miyake N, Saitsu H, Akamine S, Torio M, Sasazuki M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Matsumoto N, Hara T. Sakai Y, et al. Ann Hum Genet. 2016 Jul;80(4):235-40. doi: 10.1111/ahg.12157. Ann Hum Genet. 2016. PMID: 27346735

10

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: sakai y. BMC Neurol. 2016 Sep 15;16:174. doi: 10.1186/s12883-016-0680-6. BMC Neurol. 2016. PMID: 27634470 Free PMC article.

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