Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including theAKT3gene

Duplication ofAKT3as a cause of macrocephaly in duplication 1q43q44

(2013) David Wang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

AKT3andPIK3R2mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH

(2013) K. Nakamura et al.   CLINICAL GENETICS

Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders

(2013) Seung Tae Baek et al.   CURRENT OPINION IN NEUROLOGY

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Mosaic Copy Number Variation in Human Neurons

(2013) M. J. McConnell et al.   SCIENCE

Somatic Mutation, Genomic Variation, and Neurological Disease

(2013) A. Poduri et al.   SCIENCE

Screening of human pluripotent stem cells using CGH and FISH reveals low-grade mosaic aneuploidy and a recurrent amplification of chromosome 1q

(2012) Michal Dekel-Naftali et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Recurrent genomic instability of chromosome 1q in neural derivatives of human embryonic stem cells

(2012) Christine Varela et al.   JOURNAL OF CLINICAL INVESTIGATION

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

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission1

(2010) Ingmar Blümcke et al.   EPILEPSIA

Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options

(2008) Renzo Guerrini et al.   TRENDS IN NEUROSCIENCES