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Article

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.

Epilepsia - 1 Dec 2012

Arsov Todor, Mullen Saul A, Damiano John A, 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

Abstract excerpt

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...

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Share to Carbohydrate Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 23106342
DOI: 10.1111/epi.12007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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