Article
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
Epilepsia - 1 Jun 2016
Weckhuysen Sarah, Marsan Elise, Lambrecq Virginie, Marchal Cécile, Morin-Brureau Mélanie, An-Gourfinkel Isabelle, Baulac Michel, Fohlen Martine, Kallay Zetchi Christine, Seeck Margitta, de la Grange Pierre, Dermaut Bart, Meurs Alfred, Thomas Pierre, Chassoux Francine, Leguern Eric, Picard Fabienne, Baulac Stéphanie
Abstract excerpt
OBJECTIVE: The discovery of mutations in DEPDC5 in familial focal epilepsies has introduced a novel pathomechanism to a field so far dominated by ion channelopathies. DEPDC5 is part of a complex named GAP activity toward RAGs (GATOR) complex 1 (GATOR1), together with the proteins NPRL2 and NPRL3, and acts to inhibit the mechanistic target of rapamycin (mTOR) complex 1 (mTORC1) pathway. GATOR1 is in turn inhibited...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.