Titre:
  • Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Auteur:Leen, Wilhelmina G; Klepper, Joerg; Verbeek, Marcel M; Leferink, Maike; Hofste, Tom; van Engelen, Baziel G; Wevers, Ron A; Arthur, Todd; Bahi-Buisson, Nadia; Ballhausen, Diana; Bekhof, Jolita; Van Bogaert, Patrick; Carrilho, Inês; Chabrol, Brigitte; Champion, Michael P; Coldwell, James; Clayton, Peter; Donner, Elizabeth; Evangeliou, Athanasios; Ebinger, Friedrich; Farrell, Kevin; Forsyth, Rob J; de Goede, Christian G E L; Gross, Stephanie; Grunewald, Stephanie; Holthausen, Hans; Jayawant, Sandeep; Lachlan, Katherine; Laugel, Vincent; Leppig, Kathy; Lim, Ming J; Mancini, Grazia; Marina, Adela Della; Martorell, Loreto; McMenamin, Joe; Meuwissen, Marije E C; Mundy, Helen; Nilsson, Nils O; Panzer, Axel; Poll-The, Bwee T; Rauscher, Christian; Rouselle, Christophe M R; Sandvig, Inger; Scheffner, Thomas; Sheridan, Eamonn; Simpson, Neil; Sykora, Parol; Tomlinson, Richard; Trounce, John; Webb, David; Weschke, Bernhard; Scheffer, Hans; Willemsen, Michél A
Informations sur la publication:Brain
Statut de publication:Publié, 2010-02
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:Cerebrospinal fluid
GLUT1 deficiency syndrome
Ketogenic diet
Phenotype
SLC2A1 gene
Note générale:JOURNAL ARTICLE
SCOPUS: ar.j
Langue:Autre
Identificateurs:urn:issn:0006-8950
info:doi/10.1093/brain/awp336
info:pii/awp336
info:scp/77950286198
info:pmid/20129935