Article
The role of SLC2A1 in early onset and childhood absence epilepsies.
Epilepsy research - 1 Jul 2013
Muhle Hiltrud, Helbig Ingo, Frøslev Tobias Guldberg, Suls Arvid, von Spiczak Sarah, Klitten Laura Line, Dahl Hans Atli, Brusgaard Klaus, Neubauer Bernd, De Jonghe Peter, Tommerup Niels, Stephani Ulrich, Hjalgrim Helle, Møller Rikke Steensbjerre
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.