文献

J-GLOBAL ID：201802213859290270   整理番号：18A0362977

SZT2の2対立遺伝子突然変異は癲癇,発育遅延,巨頭症と異形脳梁を有する識別可能な病型を発生させる

Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum

著者 (13件)： Nakamura Yuji (Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan) ,  Togawa Yasuko (Department of Pediatrics, Toyohashi Municipal Hospital, Japan) ,  Okuno Yusuke (Center for Advanced Medicine and Clinical Research, Nagoya University Hospital, Japan) ,  Muramatsu Hideki (Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan) ,  Nakabayashi Kazuhiko (Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Kuroki Yoko (Department of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, Japan) ,  Ieda Daisuke (Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan) ,  Hori Ikumi (Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan) ,  Negishi Yutaka (Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan) ,  Togawa Takao (Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan) ,  Hattori Ayako (Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan) ,  Kojima Seiji (Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan) ,  Saitoh Shinji (Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Japan)
資料名： Brain & Development  (Brain & Development)
巻： 40  号： 2  ページ： 134-139  発行年： 2018年02月 
JST資料番号： W0814A  ISSN： 0387-7604  資料種別： 逐次刊行物 (A)
記事区分： 短報  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： SZT2における変異は,早期発症癲癇性脳症の原因として201...

シソーラス用語： *てんかん ,...
準シソーラス用語： *てんかん性脳症 ,...

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著者キーワード (4件)： 知的障害 ,  てんかん性脳症 ,  発作 ,  全エキソーム配列決定

分類 (2件)： 神経系の診断  (GN02000H) ,  分子遺伝学一般  (EC02010J)

物質索引 (1件)： バルプロ酸

引用文献 (9件)：

• Frankel, W.N., Yang, Y., Mahaffey, C.L., Beyer, B.J., O'Brien, T.P. Szt2, a novel gene for seizure threshold in mice. Genes Brain Behav. 2009;8:568-76.
• Toutzaris, D., Lewerenz, J., Albrecht, P., Jensen, L.T., Letz, J., Geerts, A. et al, A novel giant peroxisomal superoxide dismutase motif-containing protein. Free Radic Biol Med. 2010;48:811-20.
• Basel-Vanagaite, L., Hershkovitz, T., Heyman, E., Raspall-Chaure, M., Kakar, N., Smirin-Yosef, P. et al, Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum. Am J Hum Genet. 2013;93:524-9.
• Falcone, M., Yariz, K.O., Ross, D.B., Foster, J. 2nd, Menendez, I., Tekin, M. An amino acid deletion in SZT2 in a family with non-syndromic intellectual disability. PLoS One. 2013;8:e82810.
• Vanderver, A., Simons, C., Helman, G., Crawford, J., Wolf, N.I., Bernard, G. et al, Whole exome sequencing in patients with white matter abnormalities. Ann Neurol. 2016;79:1031-7.

タイトルに関連する用語 (6件)： 癲癇 ,  発育遅延 ,  巨頭症 ,  脳梁 ,  識別 ,  病型