Duplication ofAKT3as a cause of macrocephaly in duplication 1q43q44

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion

(2011) C Xiang et al.   CELL DEATH AND DIFFERENTIATION

Akt signalling in health and disease

(2011) Ingeborg Hers et al.   CELLULAR SIGNALLING

High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

(2011) Blake C. Ballif et al.   HUMAN GENETICS

Trisomy (1q) (q42→qter): confirmation of a syndrome

(2010) N. L. Chia et al.   CLINICAL GENETICS

A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice

(2010) S. Tokuda et al.   HUMAN MOLECULAR GENETICS