Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/12068
Title: Glucose metabolism transporters and epilepsy: only GLUT1 has an established role.
Authors: Hildebrand, Michael S;Damiano, John Anthony;Mullen, Saul A;Bellows, Susannah T;Oliver, Karen L;Dahl, Hans-Henrik M;Scheffer, Ingrid E;Berkovic, Samuel F
Affiliation: Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.
Issue Date: 31-Jan-2014
Citation: Epilepsia 2014; 55(2): e18-21
Abstract: 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.
Internal ID Number: 24483274
URI: http://ahro.austin.org.au/austinjspui/handle/1/12068
DOI: 10.1111/epi.12519
URL: http://www.ncbi.nlm.nih.gov/pubmed/24483274
Type: Journal Article
Subjects: GLUT1 deficiency
Generalized epilepsy
Glucose metabolism
Glucose transporter
Lactate transporter
Child
Child, Preschool
Cohort Studies
Energy Metabolism.physiology
Epilepsy.diagnosis.genetics.metabolism
Female
Genetic Variation.genetics
Glucose.metabolism
Glucose Transporter Type 1.physiology
Humans
Infant
Male
Mutation.genetics
Appears in Collections:Journal articles

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