Journal article
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
Abstract
Mutations of genes within the phosphatidylinositol-3-kinase (PI3K)-AKT-MTOR pathway are well known causes of brain overgrowth (megalencephaly) as well as segmental cortical dysplasia (such as hemimegalencephaly, focal cortical dysplasia and polymicrogyria). Mutations of the AKT3 gene have been reported in a few individuals with brain malformations, to date. Therefore, our understanding regarding the clinical and molecular spectrum associated …
Authors
Alcantara D; Timms AE; Gripp K; Baker L; Park K; Collins S; Cheng C; Stewart F; Mehta SG; Saggar A
Journal
Brain, Vol. 140, No. 10, pp. 2610–2622
Publisher
Oxford University Press (OUP)
Publication Date
October 1, 2017
DOI
10.1093/brain/awx203
ISSN
0006-8950