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Case Reports
. 2013 Jul;105(1-2):229-33.
doi: 10.1016/j.eplepsyres.2012.11.004. Epub 2013 Jan 8.

The Role of SLC2A1 in Early Onset and Childhood Absence Epilepsies

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Case Reports

The Role of SLC2A1 in Early Onset and Childhood Absence Epilepsies

Hiltrud Muhle et al. Epilepsy Res. .

Abstract

Early Onset Absence Epilepsy constitutes an Idiopathic Generalized Epilepsy with absences starting before the age of four years. Mutations in SLC2A1, encoding the glucose transporter, account for approximately 10% of EOAE cases. The role of SLC2A1 mutations in absence epilepsies with a later onset has not been assessed. We found two mutation carriers in 26 EOAE patients, while no mutations were found in 124 probands affected by CAE or JAE.

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