Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology

(2014) Ghayda M. Mirzaa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Mutations in mammalian target of rapamycin regulatorDEPDC5cause focal epilepsy with brain malformations

(2014) Ingrid E. Scheffer et al.   ANNALS OF NEUROLOGY

DEPDC5does it all: Shared genetics for diverse epilepsy syndromes

(2014) Annapurna Poduri   ANNALS OF NEUROLOGY

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

(2014) V. Conti et al.   CLINICAL GENETICS

Preliminary Functional Assessment and Classification ofDEPDC5Variants Associated with Focal Epilepsy

(2014) Melissa van Kranenburg et al.   HUMAN MUTATION

Somatic Mutations in Cerebral Cortical Malformations

(2014) Saumya S. Jamuar et al.   NEW ENGLAND JOURNAL OF MEDICINE

Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain

(2014) Xuyu Cai et al.   Cell Reports

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

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

(2013) J. B. Hiatt et al.   GENOME RESEARCH

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

(2013) Leanne M Dibbens et al.   NATURE GENETICS

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

(2013) Timothy W. Yu et al.   NEURON

Somatic Mutation, Genomic Variation, and Neurological Disease

(2013) A. Poduri et al.   SCIENCE

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

(2012) Kyle C. Kurek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

mTOR Signaling in Growth Control and Disease

(2012) Mathieu Laplante et al.   CELL

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

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

(2011) Marianne Hoogeveen-Westerveld et al.   HUMAN MUTATION

Analysis of TSC Cortical Tubers by Deep Sequencing of TSC1, TSC2 and KRAS Demonstrates that Small Second-Hit Mutations in these Genes are Rare Events

(2010) Wei Qin et al.   BRAIN PATHOLOGY

Tuberous Sclerosis Complex With a Single Brain Lesion on MRI Mimicking Focal Cortical Dysplasia

(2010) Tugba Hirfanoglu et al.   PEDIATRIC NEUROLOGY