Mutations in the Mammalian Target of Rapamycin Pathway Regulators NPRL2 and NPRL3 Cause Focal Epilepsy
Michael G Ricos, Bree L Hodgson, Tommaso Pippucci, Akzam Saidin, Yeh Sze Ong, Sarah E Heron, Laura Licchetta, Francesca Bisulli, Marta A Bayly, James Hughes, Sara Baldassari, Flavia Palombo, Margherita Santucci, Stefano Meletti, Samuel F Berkovic, Guido Rubboli, Paul Q Thomas, Ingrid E Scheffer, Paolo Tinuper, Joel Geoghegan Show all
ANNALS OF NEUROLOGY | WILEY | Published : 2016
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 next-generation sequencing to analyze 404 unrelated probands with focal epilepsy. We performed exome sequencing on two families with multiple members affected with focal epilepsy and linkage analysis on one of these. RESULTS: In our cohort of 404 unrelated focal epilepsy patients, we id..View full abstract
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Awarded by National Health and Medical Research Council of Australia
Awarded by Telethon Foundation
This work was supported by the National Health and Medical Research Council of Australia: Program Grant 628952 (to S.F.B., I.E.S., P.Q.T., and L.M.D.), Practitioner Fellowship 1006110 (to I.E.S.), Training Fellowship 1016715 (to S.E.H.), Career Development Fellowship 1032603 (to L.M.D.), a Telethon Foundation Project 13200 (to P.T. and T.P.) and a grant from the Channel 7 Children's Research Foundation (to L.M.D.).