PI3K/AKT Pathway and Brain Malformations

Gavin B Rice; Nitin R Wadhwani

doi:10.15844/pedneurbriefs-29-7-3

PI3K/AKT Pathway and Brain Malformations

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

Authors

Gavin B Rice¹, Nitin R Wadhwani²

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.

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.