Title: Familial cortical dysplasia caused by mutation in the mTOR regulator NPRL3 Running head: NPRL3 focal epilepsy and cortical dysplasia Authors: Joe C Sim, PhD 1* , Thomas Scerri, PhD 2,3* , Miriam Fanjul-Fernández, PhD 1 , Jessica R Riseley, BSc 1 , Greta Gillies, MSci 1 , Kate Pope, BSc (Nursing) 1 , Hanna van Roozendaal Bsc 4 , Julian I Heng, PhD 5 , Simone A Mandelstam, MBChB 6,7,12 , George McGillivray, MBChB 1 , Duncan MacGregor MBBS, PhD 8 , Lakshminarayanan Kannan, MBBS 9 , Wirginia Maixner, MBBS 10,11 , A Simon Harvey, MBBS, MD 9,10,12 , David J Amor, MBBS, PhD 1,12 , Martin B Delatycki MBBS, PhD 1,12,13 , Peter B Crino, MD, PhD 14 , Melanie Bahlo, PhD 2,3 , Paul J Lockhart, PhD 1,12** , Richard J Leventer, MBBS, PhD 9,10,12** . *these authors contributed equally **these authors contributed equally / joint corresponding authors 1 Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia 2 Bioinformatics and Population Health and Immunity Divisions, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia 3 Department of Medical Biology, The University of Melbourne, Melbourne, Australia 4 VUMC School of Medical Sciences, Amsterdam, The Netherlands 5 The Harry Perkins Institute of Medical Research, The Centre for Medical Research, University of Western Australia, Perth, Australia. 6 The Florey Institute of Neuroscience and Mental Health, Melbourne, Australia This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process which may lead to differences between this version and the Version of Record. Please cite this article as an ‘Accepted Article’, doi: 10.1002/ana.24502 This article is protected by copyright. All rights reserved.