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PI3K/AKT Pathway and Brain Malformations Cover

PI3K/AKT Pathway and Brain Malformations

Open Access
|Jul 2015

References

  1. Jansen LA Mirzaa GM Ishak GE O'Roak BJ Hiatt JB Roden WH PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia Brain 2015 Jun 138 Pt 6 1613 1628 10.1093/brain/awv045 25722288
  2. Blümcke I Thom M Aronica E Armstrong DD Vinters HV Palmini A The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission Epilepsia 2011 Jan 52 1 158 174 10.1111/j.1528-1167.2010.02777.x 21219302
  3. Rivière JB Mirzaa GM O'Roak BJ Beddaoui M Alcantara D Conway RL Finding of Rare Disease Genes (FORGE) Canada Consortium. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes Nat Genet 2012 Aug 44 8 934 940 10.1038/ng.2331 22729224
Language: English
Page range: 52 - 52
Submitted on: Jul 17, 2015
Accepted on: Jul 27, 2015
Published on: Jul 31, 2015
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services

© 2015 Gavin B. Rice, Nitin R. Wadhwani, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.