Deakin University
Browse
bellows-glucosemetabolism-2014.pdf (133.95 kB)

Glucose metabolism transporters and epilepsy: only GLUT1 has an established role

Download (133.95 kB)
Version 2 2024-06-13, 11:35
Version 1 2018-07-10, 10:28
journal contribution
posted on 2024-06-13, 11:35 authored by Michael S Hildebrand, John A Damiano, Saul A Mullen, Susannah T Bellows, Karen L Oliver, Hans-Henrik M Dahl, Ingrid E Scheffer, Samuel F Berkovic
The availability of glucose, and its glycolytic product lactate, for cerebral energy metabolism is regulated by specific brain transporters. Inadequate energy delivery leads to neurologic impairment. Haploinsufficiency of the glucose transporter GLUT1 causes a characteristic early onset encephalopathy, and has recently emerged as an important cause of a variety of childhood or later-onset generalized epilepsies and paroxysmal exercise-induced dyskinesia. We explored whether mutations in the genes encoding the other major glucose (GLUT3) or lactate (MCT1/2/3/4) transporters involved in cerebral energy metabolism also cause generalized epilepsies. A cohort of 119 cases with myoclonic astatic epilepsy or early onset absence epilepsy was screened for nucleotide variants in these five candidate genes. No epilepsy-causing mutations were identified, indicating that of the major energetic fuel transporters in the brain, only GLUT1 is clearly associated with generalized epilepsy.

History

Journal

Epilepsia

Volume

55

Pagination

e18-e21

Location

Chichester, Eng.

eISSN

1528-1167

Language

eng

Publication classification

C1 Refereed article in a scholarly journal

Copyright notice

2014, International League Against Epilepsy

Issue

2

Publisher

Wiley