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

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

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

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

Intermittent dosing of rapamycin maintains antiepileptogenic effects in a mouse model of tuberous sclerosis complex

(2015) Nicholas Rensing et al.   EPILEPSIA

Tuberous Sclerosis Complex

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

Developmental brain abnormalities in tuberous sclerosis complex: A comparative tissue analysis of cortical tubers and perituberal cortex

(2014) Véronique Ruppe et al.   EPILEPSIA

ILAE Official Report: A practical clinical definition of epilepsy

(2014) Robert S. Fisher et al.   EPILEPSIA

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

Cardiovascular Manifestations of Tuberous Sclerosis Complex and Summary of the Revised Diagnostic Criteria and Surveillance and Management Recommendations From the International Tuberous Sclerosis Consensus Group

(2014) Robert B. Hinton et al.   Journal of the American Heart Association

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

Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction

(2013) Ethan M. Goldberg et al.   NATURE REVIEWS NEUROSCIENCE

Vigabatrin Inhibits Seizures and mTOR Pathway Activation in a Mouse Model of Tuberous Sclerosis Complex

(2013) Bo Zhang et al.   PLoS One

Rapamycin Attenuates the Development of Posttraumatic Epilepsy in a Mouse Model of Traumatic Brain Injury

(2013) Dongjun Guo et al.   PLoS One

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

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

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

Inhibition of mammalian target of rapamycin reduces epileptogenesis and blood-brain barrier leakage but not microglia activation

(2012) Erwin A. van Vliet et al.   EPILEPSIA

The differential effects of prenatal and/or postnatal rapamycin on neurodevelopmental defects and cognition in a neuroglial mouse model of tuberous sclerosis complex

(2012) Sharon W. Way et al.   HUMAN MOLECULAR GENETICS

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

Intrinsic epileptogenicity of cortical tubers revealed by intracranial EEG monitoring

(2012) A. R. Mohamed et al.   NEUROLOGY

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

Post-treatment with rapamycin does not prevent epileptogenesis in the amygdala stimulation model of temporal lobe epilepsy

(2012) Anna Sliwa et al.   NEUROSCIENCE LETTERS

The Interaction between Early Life Epilepsy and Autistic-Like Behavioral Consequences: A Role for the Mammalian Target of Rapamycin (mTOR) Pathway

(2012) Delia M. Talos et al.   PLoS One

Mechanism of action of vigabatrin: correcting misperceptions

(2011) E. Ben-Menachem   ACTA NEUROLOGICA SCANDINAVICA

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex

(2011) Sergiusz Jóźwiak et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Rapamycin Suppresses Mossy Fiber Sprouting But Not Seizure Frequency in a Mouse Model of Temporal Lobe Epilepsy

(2011) P. S. Buckmaster et al.   JOURNAL OF NEUROSCIENCE

Mechanisms of epileptogenesis and potential treatment targets

(2011) Asla Pitkänen et al.   LANCET NEUROLOGY

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

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

Incidence of epilepsy: A systematic review and meta-analysis

(2011) A. K. Ngugi et al.   NEUROLOGY

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

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

Therapeutic approaches to epileptogenesis-Hope on the horizon

(2010) Asla Pitkänen   EPILEPSIA

Estimation of the burden of active and life-time epilepsy: A meta-analytic approach

(2010) Anthony K. Ngugi et al.   EPILEPSIA

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

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

Pharmacological inhibition of the mammalian target of rapamycin pathway suppresses acquired epilepsy

(2010) Xiaoxing Huang et al.   NEUROBIOLOGY OF DISEASE

Biallelic TSC gene inactivation in tuberous sclerosis complex

(2010) P. B. Crino et al.   NEUROLOGY

Everolimus for Subependymal Giant-Cell Astrocytomas in Tuberous Sclerosis

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

Prevention or Modification of Epileptogenesis after Brain Insults: Experimental Approaches and Translational Research

(2010) W. Loscher et al.   PHARMACOLOGICAL REVIEWS

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

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

The impact of genetics on the classification of epilepsy syndromes

(2009) Federico Zara et al.   EPILEPSIA

The natural history of epilepsy in tuberous sclerosis complex

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

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

(2009) Simon D. Shorvon   EPILEPSIA

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

Pharmacological Inhibition of mTORC1 Suppresses Anatomical, Cellular, and Behavioral Abnormalities in Neural-Specific Pten Knock-Out Mice

(2009) J. Zhou et al.   JOURNAL OF NEUROSCIENCE

Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex

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

The global burden and stigma of epilepsy

(2008) Hanneke M. de Boer et al.   EPILEPSY & BEHAVIOR

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