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Title: Evaluation of GLUT1 variation in non-acquired focal epilepsy.
Austin Authors: Peeraer, Alexander;Damiano, John A;Bellows, Susannah T;Scheffer, Ingrid E ;Berkovic, Samuel F ;Mullen, Saul A ;Hildebrand, Michael S 
Affiliation: Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
The Florey Institute for Neuroscience and Mental Health, University of Melbourne, Parkville, Victoria, Australia
Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia
Issue Date: Jul-2017
Date: 2017-04-10
Publication information: Epilepsy research 2017; 133: 54-57
Abstract: Brain glucose transport is dependent on glucose transporter 1 (GLUT1), encoded by the solute carrier family 2 member 1 (SLC2A1) gene. Mutations in SLC2A1 cause GLUT1 deficiency which is characterized by a broad spectrum of neurological phenotypes including generalized epilepsy, motor disorders, developmental delay and microcephaly. Recent case reports suggest SLC2A1 mutations can contribute to non-acquired focal epilepsy (NAFE) but interrogation of a large patient cohort has not been reported. We studied 200 patients with NAFE (126 with temporal lobe epilepsy) comprising 104 females and 96 males with a mean age of onset of 18 years. Polymerase chain reaction (PCR) and Sanger sequencing was performed to detect variants in all 10 coding exons and splice site regions of the SLC2A1 gene. We did not detect any pathogenic mutations in SLC2A1 in this cohort. Our data suggests that the frequency of GLUT1 mutations in NAFE is low. Limitations of this study include the mean age of onset and cohort size. Future research should focus on subpopulations of focal epilepsy with lower age of seizure onset particularly with co-existent movement disorders in which GLUT1 mutations may play a more important role.
DOI: 10.1016/j.eplepsyres.2017.04.007
ORCID: 0000-0002-2311-2174
Journal: Epilepsy research
PubMed URL: 28419980
Type: Journal Article
Subjects: GLUT1 deficiency
SLC2A1 gene
glucose transporter 1
non-acquired focal epilepsy
Appears in Collections:Journal articles

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