Next Article in Journal
Molecular Epidemiology and Evolution of European Bat Lyssavirus 2
Previous Article in Journal
LHCSR Expression under HSP70/RBCS2 Promoter as a Strategy to Increase Productivity in Microalgae
Previous Article in Special Issue
Metabolic Epilepsies—Commemorative Issue in Honor of Professor Uwe Heinemann
Article Menu
Issue 1 (January) cover image

Export Article

Open AccessReview
Int. J. Mol. Sci. 2018, 19(1), 122; doi:10.3390/ijms19010122

Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency

1
Department of Pharmacy, Faculty of Medicine, University of Prishtina, Prishtina 10000, Kosovo
2
Institute of Pharmacology and Toxicology, Faculty of Medicine, University of Prishtina, Prishtina 10000, Kosovo
3
Department of Neurology, University Clinical Center of Kosovo, Prishtina 10000, Kosovo
*
Author to whom correspondence should be addressed.
Received: 8 December 2017 / Revised: 27 December 2017 / Accepted: 30 December 2017 / Published: 5 January 2018
View Full-Text   |   Download PDF [789 KB, uploaded 5 January 2018]   |  

Abstract

Monogenic and polygenic mutations are important contributors in patients suffering from epilepsy, including metabolic epilepsies which are inborn errors of metabolism with a good respond to specific dietetic treatments. Heterozygous variation in solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1) and mutations of the GLUT1/SLC2A2 gene results in the failure of glucose transport, which is related with a glucose type-1 transporter (GLUT1) deficiency syndrome (GLUT1DS). GLUT1 deficiency syndrome is a treatable disorder of glucose transport into the brain caused by a variety of mutations in the SLC2A1 gene which are the cause of different neurological disorders also with different types of epilepsy and related clinical phenotypes. Since patients continue to experience seizures due to a pharmacoresistance, an early clinical diagnosis associated with specific genetic testing in SLC2A1 pathogenic variants in clinical phenotypes could predict pure drug response and might improve safety and efficacy of treatment with the initiation of an alternative energy source including ketogenic or analog diets in such patients providing individualized strategy approaches. View Full-Text
Keywords: glucose transporter type-1 deficiency; SLC2A1; epilepsy; pharmacogenomic; diet glucose transporter type-1 deficiency; SLC2A1; epilepsy; pharmacogenomic; diet
Figures

Figure 1

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

Scifeed alert for new publications

Never miss any articles matching your research from any publisher
  • Get alerts for new papers matching your research
  • Find out the new papers from selected authors
  • Updated daily for 49'000+ journals and 6000+ publishers
  • Define your Scifeed now

SciFeed Share & Cite This Article

MDPI and ACS Style

Daci, A.; Bozalija, A.; Jashari, F.; Krasniqi, S. Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency. Int. J. Mol. Sci. 2018, 19, 122.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
Int. J. Mol. Sci. EISSN 1422-0067 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top