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Pediatr Neurol Briefs. 2015 Jul;29(7):52. doi: 10.15844/pedneurbriefs-29-7-3.

PI3K/AKT Pathway and Brain Malformations.

Pediatric neurology briefs

Gavin B Rice, Nitin R Wadhwani

Affiliations

  1. Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Furman University, Greenville, SC.
  2. Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL.

PMID: 26933590 PMCID: PMC4747294 DOI: 10.15844/pedneurbriefs-29-7-3

Abstract

Investigators from Seattle Children's Research Institute, University of Washington, and collaborating institutions sought to evaluate 10 genes in the PI3K/AKT pathway as it relates epileptogenic brain malformations in patients with megalencephaly, hemimegalencephaly, and focal cortical dysplasia.

Keywords: Cortical dysplasia; Megalencephaly; PI3K/AKT mutations

References

  1. Epilepsia. 2011 Jan;52(1):158-74 - PubMed
  2. Nat Genet. 2012 Jun 24;44(8):934-40 - PubMed
  3. Brain. 2015 Jun;138(Pt 6):1613-28 - PubMed

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