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Kalscheuer, V.M. and James, V.M. and Himelright, M.L. and Long, P. and Oegema, R. and Jensen, C. and Bienek, M. and Hu, H. and Haas, S.A. and Topf, Maya and Hoogeboom, A.J.M. and Harvey, K. and Walikonis, R. and Harvey, R.J. (2016) Novel Missense Mutation A789V in IQSEC2 underlies X-Linked intellectual disability in the MRX78 family. Frontiers in Molecular Neuroscience 8 , ISSN 1662-5099.

Stödberg, T. and McTague, A. and Ruiz, A.J. and Hirata, H. and Zhen, J. and Long, P. and Farabella, Irene and Meyer, E. and Kawahara, A. and Vassallo, G. and Stivaros, S.M. and Bjursell, M.K. and Stranneheim, H. and Tigerschiöld, S. and Persson, B. and Bangash, I. and Das, K. and Hughes, D. and Lesko, N. and Lundeberg, J. and Scott, R.C. and Poduri, A. and Scheffer, I.E. and Smith, H. and Gissen, P. and Schorge, S. and Reith, M.E.A. and Topf, Maya and Kullmann, D.M. and Harvey, R.J. and Wedell, A. and Kurian, M.A. (2015) Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. Nature Communications 6 , p. 8038. ISSN 2041-1723.