The role of SLC2A1 in early onset and childhood absence epilepsies

Hiltrud Muhle, Ingo Helbig, Tobias Guldberg Frøslev, Arvid Suls, Sarah von Spiczak, Laura Line Klitten, Hans Atli Dahl, Klaus Brusgaard, Bernd Neubauer, Peter De Jonghe, Niels Tommerup, Ulrich Stephani, Helle Hjalgrim, Rikke Steensbjerre Møller

Research output: Contribution to journalJournal articleResearchpeer-review

15 Citations (Scopus)

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.
Original languageEnglish
JournalEpilepsy Research
Volume105
Issue number1-2
Pages (from-to)229-233
Number of pages5
ISSN0920-1211
DOIs
Publication statusPublished - 7 Jan 2013

Cite this