文献

J-GLOBAL ID：201702283619414669   整理番号：17A0358840

FGFR3関連両側性内側側頭葉発育異常の癲癇の表現型

Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis

著者 (13件)： Okazaki Tetsuya (Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan) ,  Saito Yoshiaki (Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan) ,  Saito Yoshiaki (Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Ueda Riyo (Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan) ,  Ueda Riyo (Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Awashima Takeya (Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Nishimura Yoko (Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan) ,  Yuasa Isao (Division of Legal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan) ,  Shinohara Yuki (Division of Radiology, Department of Pathophysiological Therapeutic Science, Faculty of Medicine, Tottori University, Yonago, Japan) ,  Adachi Kaori (Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Yonago, Japan) ,  Sasaki Masayuki (Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan) ,  Nanba Eiji (Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, Yonago, Japan) ,  Maegaki Yoshihiro (Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan)
資料名： Brain & Development  (Brain & Development)
巻： 39  号： 1  ページ： 67-71  発行年： 2017年01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： 低軟骨形成症(HCH)は低身長と巨大頭蓋症を特徴とする骨格形...

シソーラス用語： *先天性疾患 ,...
準シソーラス用語： 脳波検査 ,...

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著者キーワード (5件)： Hypochondroplasia ,  FGFR3 ,  Epileptic apnea ,  Temporal lobe epilepsy ,  Temporal lobe dysgenesis

分類 (2件)： 神経系の診断  (GN02000H) ,  先天性疾患・奇形の診断  (GD03020G)

引用文献 (9件)：

• Heuertz S, Le Merrer M, Zabel B, Wright M, Legeai-Mallet L, Cormier-Daire V, et al. Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. Eur J Hum Genet 2006;14:1240-7.
• Rousseau F, Bonaventure J, Legeai-Mallet L, Schmidt H, Weissenbach J, Maroteaux P, et al. Clinical and genetic heterogeneity of hypochondroplasia. J Med Genet 1996;33:749-52.
• Romeo A, Lodi M, Viri M, Parente E, Baldi M, Righini A, et al. Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome? Pediatr Neurol 2014;50:427-30.
• Fano V, Gravina LP, Pino MD, Chertkoff L, Barreiro C, Lejarraga H. High specificity of head circumference to recognize N540K mutation in hypochondroplasia. Ann Hum Biol 2005;32:782-8.
• Kannu P, Hayes IM, Mandelstam S, Donnan L, Savarirayan R. Medial temporal lobe dysgenesis in hypochondroplasia. Am J Med Genet A 2005;138:389-91.

タイトルに関連する用語 (6件)： FGFR3 ,  側性 ,  内側側頭葉 ,  発育異常 ,  癲癇 ,  表現型