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

Clinical delineation and natural history of thePIK3CA-related overgrowth spectrum

(2014) Kim M. Keppler-Noreuil et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Mammalian Target of Rapamycin Inhibitors for Intractable Epilepsy and Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex

(2014) Michael Cardamone et al.   JOURNAL OF PEDIATRICS

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

(2014) Ghayda M Mirzaa et al.   NATURE GENETICS

Evidence for mTOR pathway activation in a spectrum of epilepsy-associated pathologies

(2014) Joan Liu et al.   Acta Neuropathologica Communications

Duplication ofAKT3as a cause of macrocephaly in duplication 1q43q44

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

Everolimus treatment of refractory epilepsy in tuberous sclerosis complex

(2013) Darcy A. Krueger et al.   ANNALS OF NEUROLOGY

Everolimus in tuberous sclerosis patients with intractable epilepsy: A treatment option?

(2013) Gert Wiegand et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Original article Hemimegalencephaly: foetal tauopathy with mTOR hyperactivation and neuronal lipidosis

(2013) Harvey Sarnat et al.   FOLIA NEUROPATHOLOGICA

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

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

PI3K-Akt Signaling Activates mTOR-Mediated Epileptogenesis in Organotypic Hippocampal Culture Model of Post-Traumatic Epilepsy

(2013) Y. Berdichevsky et al.   JOURNAL OF NEUROSCIENCE

Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria

(2013) R. Pilarski et al.   JNCI-Journal of the National Cancer Institute

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

Mystery Case: Cowden syndrome presenting with partial epilepsy related to focal cortical dysplasia

(2013) N. D. Child et al.   NEUROLOGY

Diffusion tensor imaging and fiber tractography in brain malformations

(2013) Andrea Poretti et al.   PEDIATRIC RADIOLOGY

Spatiotemporal Characterization of mTOR Kinase Activity Following Kainic Acid Induced Status Epilepticus and Analysis of Rat Brain Response to Chronic Rapamycin Treatment

(2013) Matylda Macias et al.   PLoS One

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

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

An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy

(2012) Maurizio Elia et al.   BRAIN & DEVELOPMENT

Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome

(2012) Declan John O’Rourke et al.   CLINICAL DYSMORPHOLOGY

Surgical treatment of epilepsy associated with cortical dysplasia: 2012 update

(2012) Jason S. Hauptman et al.   EPILEPSIA

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

(2012) Jonathan J. Rios et al.   HUMAN MOLECULAR GENETICS

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

(2012) Marjorie J Lindhurst et al.   NATURE GENETICS

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

Focal cortical dysplasia type IIa and IIb: MRI aspects in 118 cases proven by histopathology

(2012) Nadia Colombo et al.   NEURORADIOLOGY

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

PI3K and mTOR Signaling Pathways in Cancer: New Data on Targeted Therapies

(2012) Lise Willems et al.   Current Oncology Reports

FGFR3, PIK3CA and RAS mutations in benign lichenoid keratosis

(2011) L. Groesser et al.   BRITISH JOURNAL OF DERMATOLOGY

Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features

(2011) R. Pilarski et al.   JOURNAL OF MEDICAL GENETICS

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

Multi-focal occurrence of cortical dysplasia in epilepsy patients

(2009) S. Fauser et al.   BRAIN

Postnatal evolution of cortical malformation in the “non-affected” hemisphere of hemimegalencephaly

(2009) Hiroshi Kometani et al.   BRAIN & DEVELOPMENT

Rapamycin suppresses seizures and neuronal hypertrophy in a mouse model of cortical dysplasia

(2009) M. C. Ljungberg et al.   Disease Models & Mechanisms

The Mammalian Target of Rapamycin Signaling Pathway Mediates Epileptogenesis in a Model of Temporal Lobe Epilepsy

(2009) L.-H. Zeng et al.   JOURNAL OF NEUROSCIENCE

Clinical and imaging characteristics of localized megalencephaly: a retrospective comparison of diffuse hemimegalencephaly and multilobar cortical dysplasia

(2009) Masumi Nakahashi et al.   NEURORADIOLOGY

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder

(2008) Zoran S. Gucev et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A