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|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, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia toria, Australia|
|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|
Carbohydrate Metabolism, Inborn Errors.complications
DNA Mutational Analysis
Glucose Transporter Type 1.genetics
Monosaccharide Transport Proteins.deficiency
|Appears in Collections:||Journal articles|
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