Art

J-GLOBAL ID：201102255300552585   Reference number：11A0704778

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

ピリドキシン依存型癲癇(ALDH7A1欠乏)の遺伝型および表現型の範囲

Author (23)： MILLS Philippa B. (Univ. Coll. London, London, GBR) ,  FOOTITT Emma J. (Univ. Coll. London, London, GBR) ,  MILLS Kevin A. (Univ. Coll. London, London, GBR) ,  TUSCHL Karin (Univ. Coll. London, London, GBR) ,  AYLETT Sarah (Univ. Coll. London, London, GBR) ,  VARADKAR Sophia (Univ. Coll. London, London, GBR) ,  HEMINGWAY Cheryl (Univ. Coll. London, London, GBR) ,  MARLOW Neil (Univ. Coll. Hospital, London, GBR) ,  RENNIE Janet (Univ. Coll. Hospital, London, GBR) ,  BAXTER Peter (Sheffield Children’s National Health Serv. Foundation Trust, Sheffield, GBR) ,  DULAC Olivier (Necker-Enfants Malades Hospital, PAris, FRA) ,  NABBOUT Rima (Necker-Enfants Malades Hospital, PAris, FRA) ,  CRAIGEN William J. (Baylor Coll. Medicine, TX, USA) ,  SCHMITT Bernhard (Univ. Children’s Hospital, Zurich, CHE) ,  FEILLET Francois (INSERM, Vandoeuvre les Nancy, FRA) ,  CHRISTENSEN Ernst (Rigshospitalet, Copenhagen, DNK) ,  DE LONLAY Pascale (Univ. Rene Descartes, Paris, FRA) ,  PIKE Mike G. (Children’s Hospital, Oxford, GBR) ,  HUGHES M. Imelda (Royal Manchester Children’s Hospital, Lancashire, GBR) ,  STRUYS Eduard A. (VU Univ. Medical Center Amsterdam, Amsterdam, NLD) ,  JAKOBS Cornelis (VU Univ. Medical Center Amsterdam, Amsterdam, NLD) ,  ZUBERI Sameer M. (Royal Hospital for Sick Children, Glasgow, GBR) ,  CLAYTON Peter T. (Univ. Coll. London, London, GBR)
Material： Brain
Volume： 133  Issue： 7  Page： 2148-2159  Publication year： Jul. 2010 
JST Material Number： C0919B  ISSN： 0006-8950  Document type： Article
Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Terms in the title (6)： ピリドキシン ,  依存型 ,  癲癇 ,  欠乏 ,  遺伝 ,  表現型