PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

A. Jansen, Laura; Mirzaa, Ghayda; E. Ishak, Gisele; J. O’Roak, Brian; B. Hiatt, Joseph; H. Roden, William; A. Gunter, Sonya; L. Christian, Susan; Collins, Sarah; Adams, Carissa; Rivière, Jean‐Baptiste; St‐Onge, Judith; G. Ojemann, Jeffrey; Shendure, Jay; F. Hevner, Robert; B. Dobyns, William

doi:10.1093/brain/awv045

Public

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Published in Brain • Feb 25, 2015

Authors:

Laura A. Jansen

Ghayda Mirzaa

Gisele E. Ishak

Abstract

Malformations of cortical development containing dysplastic neuronal and glial elements, including hemimegalencephaly and focal cortical dysplasia, are common causes of intractable paediatric epilepsy. In this study we performed multiplex targeted sequencing of 10 genes in the PI3K/AKT pathway on br...

Subject

Cortical dysplasia

Hemimegalencephaly

Megalencephaly

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