Understanding the Spectrum of SLC2A1-Associated Disorders
By: Marytery Fajardo and Melissa L. Cirillo
References
- Larsen J Johannesen KM Ek J Tang S Marini C Blichfeldt S MAE working group of EuroEPINOMICS RES Consortium The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome Epilepsia 2015 Dec 56 12 e203 8 10.1111/epi.13222 26537434
- Coman DJ Sinclair KG Burke CJ Appleton DB Pelekanos JT O’Neil CM Seizures, ataxia, developmental delay and the general paediatrician: glucose transporter 1 deficiency syndrome J Paediatr Child Health 2006 May 42 5 263 7 10.1111/j.1440-1754.2006.00852.x 16712556
- Leen WG Klepper J Verbeek MM Leferink M Hofste T van Engelen BG Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder Brain 2010 Mar 133 Pt 3 655 70 10.1093/brain/awp336 20129935
- Pearson TS Akman C Hinton VJ Engelstad K De Vivo DC Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS) Curr Neurol Neurosci Rep 2013 Apr 13 4 342 10.1007/s11910-013-0342-7 23443458
- Mullen SA Marini C Suls A Mei D Della Giustina E Buti D Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy Arch Neurol 2011 Sep 68 9 1152 5 10.1001/archneurol.2011.102 21555602
DOI: https://doi.org/10.15844/pedneurbriefs-31-2-1 | Journal eISSN: 2166-6482
Language: English
Page range: 4 - 4
Submitted on: Dec 8, 2016
Accepted on: Dec 25, 2016
Published on: Feb 1, 2017
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services
© 2017 Marytery Fajardo, Melissa L. Cirillo, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.