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J-GLOBAL ID：201902274272098899   Reference number：19A0078505

Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review

ALDH7A1遺伝子変異に関連する脳奇形:新規ホモ接合変異と文献レビューの報告【JST・京大機械翻訳】

Author (8)： Toldo Irene (Department of Woman’s and Child’s Health, University Hospital of Padua, Italy) ,  Bonardi Claudia Maria (Department of Woman’s and Child’s Health, University Hospital of Padua, Italy) ,  Bettella Elisa (Department of Woman’s and Child’s Health, University Hospital of Padua, Italy) ,  Polli Roberta (Department of Woman’s and Child’s Health, University Hospital of Padua, Italy) ,  Talenti Giacomo (Department of Neurosciences, University Hospital of Padua, Italy) ,  Burlina Alberto (Department of Woman’s and Child’s Health, University Hospital of Padua, Italy) ,  Sartori Stefano (Department of Woman’s and Child’s Health, University Hospital of Padua, Italy) ,  Murgia Alessandra (Department of Neurosciences, University Hospital of Padua, Italy)
Material： European Journal of Paediatric Neurology
Volume： 22  Issue： 6  Page： 1042-1053  Publication year： 2018 
JST Material Number： W3295A  ISSN： 1090-3798  Document type： Article
Article type： 文献レビュー  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： The ALDH7A1 gene is known to b...

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Thesaurus term： DNA ,  neonate ,  seizure(disease) ,  missense mutation ,  targeting ,  epilepsy ,  *gene ,  mutation ,  anticonvulsant ,  *literature review ,  *genetic variation ,  *variation(biology) ,  spectrum ,  phenotype ,  human(primates) ,  autosome

Author keywords (6)： Pyridoxine-dependent epilepsy ,  ALDH7A1 ,  Brain malformation ,  Vitamin B6 ,  Neonatal epileptic encephalopathy ,  Neonatal seizures

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Molecular genetics in general  (EC02010J)

Terms in the title (6)： 遺伝子変異 ,  脳奇形 ,  ホモ接合 ,  変異 ,  文献レビュー ,  報告