Title
The role of **SLC2A1** in early onset and childhood absence epilepsies The role of **SLC2A1** in early onset and childhood absence epilepsies
Author
Faculty/Department
Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . Biomedical Sciences
Publication type
article
Publication
Amsterdam ,
Subject
Biology
Human medicine
Source (journal)
Epilepsy research. - Amsterdam
Volume/pages
105(2013) :1-2 , p. 229-233
ISSN
0920-1211
ISI
000320737500029
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
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.
E-info
https://repository.uantwerpen.be/docman/iruaauth/043238/282049310c3.pdf
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