Art

J-GLOBAL ID：202002240241993771   Reference number：20A0637127

Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy

複合ヘテロ接合ALDH7A1変異はピリドキシン依存性てんかん患者の片対立遺伝子発現を引き起こす

Author (11)： Yanagishita Tomoe (Department of Pediatrics, Tokyo Women’s Medical University) ,  Yanagishita Tomoe (Institute of Medical Genetics, Tokyo Women’s Medical University) ,  Yamamoto-Shimojima Keiko (Institute of Medical Genetics, Tokyo Women’s Medical University) ,  Yamamoto-Shimojima Keiko (Tokyo Women’s Medical University Institute of Integrated Medical Sciences) ,  Koike Takayoshi (Department of Pediatrics, National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders) ,  Nasu Hirosato (Department of Pediatrics, National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders) ,  Takahashi Yukitoshi (Department of Pediatrics, National Hospital Organization Shizuoka Institute of Epilepsy and Neurological Disorders) ,  Akiyama Tomoyuki (Department of Child Neurology, Okayama University School of Medicine) ,  Nagata Satoru (Department of Pediatrics, Tokyo Women’s Medical University) ,  Yamamoto Toshiyuki (Institute of Medical Genetics, Tokyo Women’s Medical University) ,  Yamamoto Toshiyuki (Tokyo Women’s Medical University Institute of Integrated Medical Sciences)
Material： Tokyo Women's Medical University Journal (Web)
Volume： 3  Page： 73-77(J-STAGE)  Publication year： 2019 
JST Material Number： U1328A  ISSN： 2432-6186  Document type： Article
Article type： 短報  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： brain MRI ,...

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Author keywords (5)： RNA splicing ,  hemi-allelic expression ,  neonatal seizure ,  damaging scores ,  reverse transcribed-PCR

JST classification (2)： Nervous system diseases  (GN03000O) ,  Congenital diseases,deformities in general.  (GD03010V)

Substance index (2)： Vitamin B6 ,  Midazolam

Reference (9)：

• 1) Mills PB, Struys E, Jakobs C et al: Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 12: 307-309, 2006
• 2) Plecko B, Paul K, Paschke E et al: Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat 28: 19-26, 2007
• 3) Mills PB, Footitt EJ, Mills KA et al: Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain 133: 2148-2159, 2010
• 4) Toldo I, Bonardi CM, Bettella E et al: Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review. Eur J Paediatr Neurol 22: 1042-1053, 2018
• 5) Akiyama T, Akiyama M, Hayashi Y et al: Measurement of pyridoxal 5'-phosphate, pyridoxal, and 4-pyridoxic acid in the cerebrospinal fluid of children. Clin Chim Acta 466: 1-5, 2017

Terms in the title (7)： ヘテロ接合 ,  変異 ,  ピリドキシン ,  依存性 ,  てんかん ,  患者 ,  遺伝子発現