Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency
Version of Record online: 25 OCT 2012
Wiley Periodicals, Inc. © 2012 International League Against Epilepsy
Volume 53, Issue 12, pages e204–e207, December 2012
How to Cite
Arsov, T., Mullen, S. A., Damiano, J. A., Lawrence, K. M., Huh, L. L., Nolan, M., Young, H., Thouin, A., Dahl, H.-H. M., Berkovic, S. F., Crompton, D. E., Sadleir, L. G. and Scheffer, I. E. (2012), Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency. Epilepsia, 53: e204–e207. doi: 10.1111/epi.12007
- Issue online: 3 DEC 2012
- Version of Record online: 25 OCT 2012
- Accepted September 5, 2012; Early View publication October 25, 2012.
- Genetic generalized epilepsy;
- GLUT1 deficiency
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.