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Page 1
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
Sim JC, Scerri T, Fanjul-Fernández M, Riseley JR, Gillies G, Pope K, van Roozendaal H, Heng JI, Mandelstam SA, McGillivray G, MacGregor D, Kannan L, Maixner W, Harvey AS, Amor DJ, Delatycki MB, Crino PB, Bahlo M, Lockhart PJ, Leventer RJ. Sim JC, et al. Among authors: leventer rj. Ann Neurol. 2016 Jan;79(1):132-7. doi: 10.1002/ana.24502. Epub 2015 Dec 12. Ann Neurol. 2016. PMID: 26285051
Malformations of cortical development and epilepsy.
Leventer RJ, Guerrini R, Dobyns WB. Leventer RJ, et al. Dialogues Clin Neurosci. 2008;10(1):47-62. doi: 10.31887/DCNS.2008.10.1/rjleventer. Dialogues Clin Neurosci. 2008. PMID: 18472484 Free PMC article. Review.
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
Leventer RJ, Jansen A, Pilz DT, Stoodley N, Marini C, Dubeau F, Malone J, Mitchell LA, Mandelstam S, Scheffer IE, Berkovic SF, Andermann F, Andermann E, Guerrini R, Dobyns WB. Leventer RJ, et al. Brain. 2010 May;133(Pt 5):1415-27. doi: 10.1093/brain/awq078. Epub 2010 Apr 19. Brain. 2010. PMID: 20403963 Free PMC article.
Phenotypic variability of distal 22q11.2 copy number abnormalities.
Tan TY, Collins A, James PA, McGillivray G, Stark Z, Gordon CT, Leventer RJ, Pope K, Forbes R, Crolla JA, Ganesamoorthy D, Burgess T, Bruno DL, Slater HR, Farlie PG, Amor DJ. Tan TY, et al. Among authors: leventer rj. Am J Med Genet A. 2011 Jul;155A(7):1623-33. doi: 10.1002/ajmg.a.34051. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671380
Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.
Carranza Rojo D, Harvey AS, Iona X, Dibbens LM, Damiano JA, Arsov T, Gill D, Freeman JL, Leventer RJ, Vincent A, Berkovic SF, McMahon JM, Scheffer IE. Carranza Rojo D, et al. Among authors: leventer rj. Epilepsy Res. 2012 Jun;100(1-2):194-8. doi: 10.1016/j.eplepsyres.2012.02.007. Epub 2012 Mar 3. Epilepsy Res. 2012. PMID: 22386634
209 results