Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Brain : a Journal of Neurology
Wilhelmina G LeenMichél A Willemsen

Abstract

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 subsequently in three clinically affected family members. In these 57 patients we identified 49 different mutations, including six multiple exon deletions, six known mutations and 37 novel mutations (13 missense, five nonsense, 13 frame shift, four splice site and two translation initiation mutations). Clinical data were retrospectively collected from referring physicians by means of a questionnaire. Three different phenotypes were recognized: (i) the classical phenotype (84%), subdivided into early-onset (<2 years) (65%) and late-onset (18%); (ii) a non-classical phenotype, with mental retardation and movement disorder, without epilepsy (15%); and (iii) one adult case of glucose transporter-1 deficiency syndrome with minimal symptoms. Recognizing glucose transporter-1 deficiency syndrome is important, since a ketogenic diet wa...Continue Reading

References

Sep 6, 1985·Science·M MuecklerH F Lodish
May 1, 1993·The Journal of Infection·P D CameronB M Ansari
May 14, 1999·Journal of Clinical Laboratory Analysis·J KlepperD C De Vivo
Sep 12, 2000·Human Mutation·D WangD C De Vivo
Jan 4, 2001·Human Molecular Genetics·J KlepperT Voit
Oct 18, 2001·Annals of Neurology·K BrockmannD C De Vivo
Oct 30, 2001·Molecular Membrane Biology·P W Hruz, M M Mueckler
Nov 8, 2003·Journal of Inherited Metabolic Disease·W C G Overweg-PlandsoenD C De Vivo
Feb 11, 2004·Prostaglandins, Leukotrienes, and Essential Fatty Acids·Jörg KlepperThomas Voit
Dec 29, 2004·Annals of Neurology·Dong WangDarryl C De Vivo
Sep 9, 2005·Movement Disorders : Official Journal of the Movement Disorder Society·Jennifer R L FriedmanMarvin R Natowicz
May 11, 2007·Developmental Medicine and Child Neurology·Sascha VermeerBert B A de Vries
Aug 7, 2007·Pediatric Neurology·Jörg KlepperAndreas Fiedler
Aug 28, 2007·Developmental Medicine and Child Neurology·Joerg Klepper, Baerbel Leiendecker
Apr 12, 2008·Journal of Child Neurology·Charuta JoshiFrances A Booth
May 3, 2008·The Journal of Clinical Investigation·Yvonne G WeberHolger Lerche
May 16, 2008·Epilepsia·Eliane Roulet-PerezMalin Maeder-Ingvar
Jun 17, 2008·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·I TicusB Chabrol
Jul 9, 2008·Neurology·G ZorziN Nardocci
Feb 25, 2009·Epilepsy Research·Laurel SlaughterTodd Arthur
Mar 24, 2009·Brain & Development·Knut Brockmann
Jul 25, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Susanne A SchneiderKailash P Bhatia

❮ Previous
Next ❯

Citations

Jul 27, 2011·Der Nervenarzt·H LercheC Elger
Apr 6, 2011·Current Neurology and Neuroscience Reports·Ruth H Walker
Feb 28, 2013·Current Neurology and Neuroscience Reports·Toni S PearsonDarryl C De Vivo
Aug 22, 2013·Current Neurology and Neuroscience Reports·Knut Brockmann
Feb 12, 2013·CNS Drugs·Amy McTague, J Helen Cross
Aug 9, 2013·International Journal of Obesity : Journal of the International Association for the Study of Obesity·G-J WangE Dunayevich
Oct 21, 2011·Journal of Human Genetics·Natsuko HashimotoKeiichi Ozono
Oct 28, 2011·Nature Neuroscience·Erik StorkebaumPeter Carmeliet
Feb 17, 2010·Brain : a Journal of Neurology·Patrick F Chinnery
Sep 20, 2011·Current Opinion in Pediatrics·Lea K Parsley, Janet A Thomas
Apr 8, 2011·Epilepsia·Pierangelo VeggiottiBernardo Dalla Bernardina
May 7, 2013·Annual Review of Neuroscience·Jonathan F RussellLouis J Ptáček
Oct 5, 2013·Continuum : Lifelong Learning in Neurology·Ruth H Walker
Jul 10, 2014·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Michelle N ServaasAndré Aleman
Jun 19, 2013·Brain : a Journal of Neurology·Gavin CharlesworthNicholas W Wood
Feb 11, 2014·Epilepsy & Behavior : E&B·Anette Ramm-PettersenKaja Kristine Selmer
Jan 14, 2011·Journal of Inherited Metabolic Disease·Anne RoubergueRichard Levy
Mar 19, 2014·Current Treatment Options in Neurology·Pierangelo Veggiotti, Valentina De Giorgis
Oct 5, 2014·Neuromolecular Medicine·Ryan W LeeAli Fatemi
Nov 26, 2013·Revue neurologique·D GrasF Mochel
Sep 23, 2014·Epilepsy & Behavior : E&B·Anette Ramm-PettersenKaja Kristine Selmer
Jan 30, 2016·Indian Journal of Pediatrics·Jaina Patel, Saadet Mercimek-Mahmutoglu
Feb 8, 2014·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·S DaoudiM Ait-kaci-Ahmed
Nov 9, 2014·BMC Pediatrics·Delia YuberoRafael Artuch
Jun 19, 2012·Pediatric Neurology·Yanyan LiuXiru Wu
Oct 4, 2011·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·A VerrottiG Gobbi
Mar 29, 2011·Epilepsy & Behavior : E&B·Sudha K KesslerEric H Kossoff
Mar 9, 2011·Epilepsy Research·Joerg Klepper
Jan 8, 2015·Seizure : the Journal of the British Epilepsy Association·Valentina De GiorgisPierangelo Veggiotti
Nov 23, 2010·Revue neurologique·D GrabliE Roze
Nov 26, 2015·Brain : a Journal of Neurology·Alice R GardinerHenry Houlden
Oct 25, 2014·Scientific Reports·Rupak DoshiGeoffrey Chang
Jan 3, 2013·Annals of Neurology·Todor ArsovIngrid E Scheffer
Dec 23, 2011·Annals of Neurology·Hong YangDarryl C De Vivo
Jun 27, 2013·Movement Disorders : Official Journal of the Movement Disorder Society·Wilhelmina G LeenMichel A Willemsen
Oct 31, 2012·Epilepsia·Todor ArsovIngrid E Scheffer
Apr 20, 2011·Developmental Medicine and Child Neurology·Yasushi ItoMakiko Osawa
Jun 9, 2011·Developmental Medicine and Child Neurology·Geetha AnandTony McShane

❮ Previous
Next ❯

Related Concepts

Related Feeds

CSF & Lymphatic System

This feed focuses on Cerebral Spinal Fluid (CSF) and the lymphatic system. Discover the latest papers using imaging techniques to track CSF outflow into the lymphatic system in animal models.

Related Papers

Developmental Medicine and Child Neurology
Joerg Klepper, Baerbel Leiendecker
Movement Disorders : Official Journal of the Movement Disorder Society
Roser PonsDarryl C De Vivo
© 2021 Meta ULC. All rights reserved