Journal article

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies

Todor Arsov, Saul A Mullen, Sue Rogers, A Marie Phillips, Kate M Lawrence, John A Damiano, Hadassa Goldberg-Stern, Zaid Afawi, Sara Kivity, Chantal Trager, Steven Petrou, Samuel F Berkovic, Ingrid E Scheffer



OBJECTIVE: We examined whether glucose transporter 1 (GLUT1) deficiency causes common idiopathic generalized epilepsies (IGEs). METHODS: The IGEs are common, heritable epilepsies that usually follow complex inheritance; currently little is known about their genetic architecture. Previously considered rare, GLUT1 deficiency, due to mutations in SLC2A1, leads to failure of glucose transport across the blood-brain barrier and inadequate glucose for brain metabolism. GLUT1 deficiency was first associated with an encephalopathy and more recently found in rare dominant families with epilepsy and paroxysmal exertional dyskinesia (PED). Five hundred four probands with IGEs and 470 controls underwent..

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Awarded by National Health and Medical Research Council

Funding Acknowledgements

This work was funded by a National Health and Medical Research Council program grant (6289521 awarded to S.P., S.F.B., I.E.S.).S.P.: consultancy, Sunovion Pharma. S. F. B.: honoraria, UCB; patents, patent for PCDH19 testing planned; patent for SCN1A testing held by Bionomics Inc and licensed to various diagnostic companies (no financial return); paid educational presentations, UCB Pharma, Novartis Pharmaceuticals, Sanofi-Aventis, Janssen-Cilag; consultancy, Bionomics, Athena Diagnostics. I. E. S.: board membership, Annals of Neurology, Epileptic Disorders (no funding received for either); speaking fees, UCB, Janssen-Cilag, Athena Diagnostics; patent pending, WO61/010176 (therapeutic compound); paid educational presentations, UCB, Athena Diagnostics; travel expenses, Athena Diagnostics, UCB, GSK, Biocodex.