Article
GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.
Neurology - 21 Feb 2012
Striano P, Weber Y G, Toliat M R, Schubert J, Leu C, Chaimana R, Baulac S, Guerrero R, LeGuern E, Lehesjoki A-E, Polvi A, Robbiano A, Serratosa J M, Guerrini R, Nürnberg P, Sander T, Zara F, Lerche H, Marini C
Abstract excerpt
OBJECTIVE: The idiopathic generalized epilepsies (IGE) are the most common genetically determined epilepsies. However, the underlying genes are largely unknown. We screened the SLC2A1 gene, encoding the glucose transporter type 1 (GLUT1), for mutations in a group of 95 European patients with familial IGE. METHODS: The affected individuals were examined clinically by EEG and brain imaging. The coding regions of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.