Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/11598
Title: Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.
Authors: Arsov, Todor;Mullen, Saul A;Damiano, John Anthony;Lawrence, Kate M;Huh, Linda L;Nolan, Melinda;Young, Helen;Thouin, Anaïs;Dahl, Hans-Henrik M;Berkovic, Samuel F;Crompton, Douglas E;Sadleir, Lynette G;Scheffer, Ingrid E
Affiliation: Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia.
Issue Date: 25-Oct-2012
Citation: Epilepsia 2012; 53(12): e204-7
Abstract: Glucose transporter 1 (GLUT1) deficiency caused by mutations of SLC2A1 is an increasingly recognized cause of genetic generalized epilepsy. We previously reported that >10% (4 of 34) of a cohort with early onset absence epilepsy (EOAE) had GLUT1 deficiency. This study uses a new cohort of 55 patients with EOAE to confirm that finding. Patients with typical absence seizures beginning before 4 years of age were screened for solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1) mutations or deletions. All had generalized spike-waves on electroencephalography (EEG). Those with tonic and/or atonic seizures were excluded. Mutations were found in 7 (13%) of 55 cases, including five missense mutations, an in-frame deletion leading to loss of a single amino acid, and a deletion spanning two exons. Over both studies, 11 (12%) of 89 probands with EOAE have GLUT1 deficiency. Given the major treatment and genetic counseling implications, this study confirms that SLC2A1 mutational analysis should be strongly considered in EOAE.
Internal ID Number: 23106342
URI: http://ahro.austin.org.au/austinjspui/handle/1/11598
DOI: 10.1111/epi.12007
URL: http://www.ncbi.nlm.nih.gov/pubmed/23106342
Type: Journal Article
Subjects: Adolescent
Adult
Animals
Carbohydrate Metabolism, Inborn Errors.complications
Child
Child, Preschool
Cohort Studies
DNA Mutational Analysis
Epilepsy, Absence.etiology.genetics
Evolution, Molecular
Female
Glucose Transporter Type 1.genetics
Humans
Male
Monosaccharide Transport Proteins.deficiency
Mutation.genetics
Appears in Collections:Journal articles

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