Targeting the Mammalian Target of Rapamycin for Epileptic Encephalopathies and Malformations of Cortical Development

Tuberous sclerosis complex as a model disease for developing new therapeutics for epilepsy

(2016) Anna Jeong et al.   Expert Review of Neurotherapeutics

The genetic landscape of the epileptic encephalopathies of infancy and childhood

(2016) Amy McTague et al.   LANCET NEUROLOGY

Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants

(2016) Joyce Y. Wu et al.   PEDIATRIC NEUROLOGY

Tuberous sclerosis complex as a model disease for developing new therapeutics for epilepsy

(2016) Anna Jeong et al.   Expert Review of Neurotherapeutics

Somatic Mutations in theMTORgene cause focal cortical dysplasia type IIb

(2015) Mitsuko Nakashima et al.   ANNALS OF NEUROLOGY

Familial focal epilepsy with focal cortical dysplasia due toDEPDC5mutations

(2015) Stéphanie Baulac et al.   ANNALS OF NEUROLOGY

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

(2015) Alissa M. D'Gama et al.   ANNALS OF NEUROLOGY

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

(2015) Jae Seok Lim et al.   NATURE MEDICINE

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development

(2015) Seung Tae Baek et al.   NATURE MEDICINE

Tuberous Sclerosis Complex

(2015) Francis J. DiMario et al.   PEDIATRIC CLINICS OF NORTH AMERICA

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

The Neurology of mTOR

(2014) Jonathan O. Lipton et al.   NEURON

Atypical focal cortical dysplasia in a patient with Cowden syndrome

(2014) KM Cheung et al.   HONG KONG MEDICAL JOURNAL

Everolimus treatment of refractory epilepsy in tuberous sclerosis complex

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

A critical review of mTOR inhibitors and epilepsy: from basic science to clinical trials

(2013) Michael Wong   Expert Review of Neurotherapeutics

Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial

(2013) John J Bissler et al.   LANCET

A Tumor Suppressor Complex with GAP Activity for the Rag GTPases That Signal Amino Acid Sufficiency to mTORC1

(2013) L. Bar-Peled et al.   SCIENCE

Rapamycin Prevents Seizures After Depletion of STRADA in a Rare Neurodevelopmental Disorder

(2013) W. E. Parker et al.   Science Translational Medicine

A developmental and genetic classification for malformations of cortical development: update 2012

(2012) A. James Barkovich et al.   BRAIN

mTOR Signaling in Growth Control and Disease

(2012) Mathieu Laplante et al.   CELL

Identification of new epilepsy treatments: Issues in preclinical methodology

(2012) Aristea S. Galanopoulou et al.   EPILEPSIA

Electrocorticographic evidence of perituberal cortex epileptogenicity in tuberous sclerosis complex

(2012) Tracy S. Ma et al.   Journal of Neurosurgery-Pediatrics

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

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Evidence-based guideline update: Medical treatment of infantile spasms: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

(2012) C. Y. Go et al.   NEUROLOGY

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

Definition and natural history of Lennox-Gastaut syndrome

(2011) Peter R. Camfield   EPILEPSIA

Inhibition of the mammalian target of rapamycin blocks epilepsy progression in NS-Pten conditional knockout mice

(2011) C. Nicole Sunnen et al.   EPILEPSIA

Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice

(2011) David M. Feliciano et al.   JOURNAL OF CLINICAL INVESTIGATION

A pulse rapamycin therapy for infantile spasms and associated cognitive decline

(2011) Emmanuel Raffo et al.   NEUROBIOLOGY OF DISEASE

Neuronal and glia abnormalities in Tsc1-deficient forebrain and partial rescue by rapamycin

(2011) Robert P. Carson et al.   NEUROBIOLOGY OF DISEASE

Efficacy and Safety of Sirolimus in Lymphangioleiomyomatosis

(2011) Francis X. McCormack et al.   NEW ENGLAND JOURNAL OF MEDICINE

Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex

(2011) J. Goto et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The underlying etiology of infantile spasms (West syndrome): Information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification2

(2010) John P. Osborne et al.   EPILEPSIA

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

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of Tuberous Sclerosis Complex

(2010) L.-H. Zeng et al.   HUMAN MOLECULAR GENETICS

STRADα deficiency results in aberrant mTORC1 signaling during corticogenesis in humans and mice

(2010) Ksenia A. Orlova et al.   JOURNAL OF CLINICAL INVESTIGATION

mTOR: from growth signal integration to cancer, diabetes and ageing

(2010) Roberto Zoncu et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Everolimus for Subependymal Giant-Cell Astrocytomas in Tuberous Sclerosis

(2010) Darcy A. Krueger et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

The natural history of epilepsy in tuberous sclerosis complex

(2009) Catherine J. Chu-Shore et al.   EPILEPSIA

Focal brain malformations: Seizures, signaling, sequencing

(2009) Peter B. Crino   EPILEPSIA

Drug treatment of epilepsy in the century of the ILAE: The second 50 years, 1959-2009

(2009) Simon D. Shorvon   EPILEPSIA

Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex

(2008) Ling-Hui Zeng et al.   ANNALS OF NEUROLOGY

Clinical Presentation and Diagnosis of Tuberous Sclerosis Complex in Infancy

(2008) Anita N. Datta et al.   JOURNAL OF CHILD NEUROLOGY

Response of a Neuronal Model of Tuberous Sclerosis to Mammalian Target of Rapamycin (mTOR) Inhibitors: Effects on mTORC1 and Akt Signaling Lead to Improved Survival and Function

(2008) L. Meikle et al.   JOURNAL OF NEUROSCIENCE

Tuberous sclerosis

(2008) Paolo Curatolo et al.   LANCET

AMPK Phosphorylation of Raptor Mediates a Metabolic Checkpoint

(2008) Dana M. Gwinn et al.   MOLECULAR CELL

Mechanisms of Epileptogenesis in Tuberous Sclerosis Complex and Related Malformations of Cortical Development with Abnormal Glioneuronal Proliferation

(2007) Michael Wong   EPILEPSIA