Article
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Annals of neurology - 1 Jan 2016
Ricos Michael G, Hodgson Bree L, Pippucci Tommaso, Saidin Akzam, Ong Yeh Sze, Heron Sarah E, Licchetta Laura, Bisulli Francesca, Bayly Marta A, Hughes James, Baldassari Sara, Palombo Flavia, Santucci Margherita, Meletti Stefano, Berkovic Samuel F, Rubboli Guido, Thomas Paul Q, Scheffer Ingrid E, Tinuper Paolo, Geoghegan Joel, Schreiber Andreas W, Dibbens Leanne M
Abstract excerpt
OBJECTIVE: Focal epilepsies are the most common form observed and have not generally been considered to be genetic in origin. Recently, we identified mutations in DEPDC5 as a cause of familial focal epilepsy. In this study, we investigated whether mutations in the mammalian target of rapamycin (mTOR) regulators, NPRL2 and NPRL3, also contribute to cases of focal epilepsy. METHODS: We used targeted capture and...
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