Article
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Brain : a journal of neurology - 1 Mar 2010
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
Abstract excerpt
Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and...
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