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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
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Department of Neurology, University Clinical Center of Kosovo, Prishtina 10000, Kosovo
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2018, 19(1), 122; https://doi.org/10.3390/ijms19010122
Received: 8 December 2017 / Revised: 27 December 2017 / Accepted: 30 December 2017 / Published: 5 January 2018
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
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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.

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