Evaluation of GLUT1 variation in non-acquired focal epilepsy

Alexander Peeraer; John A Damiano; Susannah T Bellows; Ingrid E Scheffer; Samuel F Berkovic; Saul A Mullen; Michael S Hildebrand

Journal article

Evaluation of GLUT1 variation in non-acquired focal epilepsy

Alexander Peeraer, John A Damiano, Susannah T Bellows, Ingrid E Scheffer, Samuel F Berkovic, Saul A Mullen, Michael S Hildebrand

EPILEPSY RESEARCH | ELSEVIER SCIENCE BV | Published : 2017

DOI: 10.1016/j.eplepsyres.2017.04.007

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 p..

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University of Melbourne Researchers

Saul Mullen Author Medical Education

Ingrid Scheffer Author Medicine - Austin Health

Michael Hildebrand Author Medicine - Austin Health

Sam Berkovic Author Medicine - Austin Health

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Grants

Awarded by National Health and Medical Research Council (NHMRC)

Funding Acknowledgements

We thank the patients and their families for participating in our research program. Rebekah Stubbs and Amelia McGlade (University of Melbourne) are acknowledged for performing genomic DNA extractions. This study was supported by a National Health and Medical Research Council (NHMRC) Program Grant (1091593) to SFB and IES, a Practitioner Fellowship (1104831) to IES, a Career Development Fellowship (1063799) to MSH, and a Postdoctoral Training Fellowship to SAM (1072081). We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.