RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity

Why Malformations of Cortical Development Cause Epilepsy

(2019) Alfonso Represa   Frontiers in Neuroscience

mTOR Hyperactivity Levels Influence the Severity of Epilepsy and Associated Neuropathology in an Experimental Model of Tuberous Sclerosis Complex and Focal Cortical Dysplasia

(2019) Lena H. Nguyen et al.   JOURNAL OF NEUROSCIENCE

Malformations of Cerebral Cortex Development: Molecules and Mechanisms

(2019) Gordana Juric-Sekhar et al.   Annual Review of Pathology-Mechanisms of Disease

A randomized controlled trial with everolimus for IQ and autism in tuberous sclerosis complex

(2019) Iris E. Overwater et al.   NEUROLOGY

Everolimus for the treatment of refractory seizures associated with tuberous sclerosis complex (TSC): current perspectives

(2019) IE Overwater et al.   Therapeutics and Clinical Risk Management

Effects of antiepileptic drugs in a new TSC/mTOR-dependent epilepsy mouse model

(2019) Linda M. C. Koene et al.   Annals of Clinical and Translational Neurology

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy

(2018) Théo Ribierre et al.   JOURNAL OF CLINICAL INVESTIGATION

Somatic Depdc5 deletion recapitulates electroclinical features of human focal cortical dysplasia type IIA

(2018) Shuntong Hu et al.   ANNALS OF NEUROLOGY

Electrocorticographic Dynamics as a Novel Biomarker in Five Models of Epileptogenesis

(2017) Dan Z. Milikovsky et al.   JOURNAL OF NEUROSCIENCE

Twenty-five years of mTOR: Uncovering the link from nutrients to growth

(2017) David M. Sabatini   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

(2017) M. R. F. Reijnders et al.   Nature Communications

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias

(2017) Alissa M. D’Gama et al.   Cell Reports

Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders

(2017) Darcy A. Krueger et al.   Annals of Clinical and Translational Neurology

Genetic animal models of malformations of cortical development and epilepsy

(2016) Michael Wong et al.   JOURNAL OF NEUROSCIENCE METHODS

Extracellular vesicles round off communication in the nervous system

(2016) Vivian Budnik et al.   NATURE REVIEWS NEUROSCIENCE

Sirolimus for epilepsy in children with tuberous sclerosis complex

(2016) Iris E. Overwater et al.   NEUROLOGY

Convulsive seizures from experimental focal cortical dysplasia occur independently of cell misplacement

(2016) Lawrence S. Hsieh et al.   Nature Communications

Activating the translational repressor 4E-BP or reducing S6K-GSK3β activity prevents accelerated axon growth induced by hyperactive mTORin vivo

(2015) Xuan Gong et al.   HUMAN MOLECULAR GENETICS

Intact neuronal function in Rheb1 mutant mice: implications for TORC1-based treatments

(2015) S. M. I. Goorden et al.   HUMAN MOLECULAR GENETICS

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

SNAREs Controlling Vesicular Release of BDNF and Development of Callosal Axons

(2015) Masafumi Shimojo et al.   Cell Reports

Genes and brain malformations associated with abnormal neuron positioning

(2015) Jeffrey J. Moffat et al.   Molecular Brain

TORC1-dependent epilepsy caused by acute biallelicTsc1deletion in adult mice

(2013) Elisabeth Abs et al.   ANNALS OF NEUROLOGY

Lineage-specific laminar organization of cortical GABAergic interneurons

(2013) Gabriele Ciceri et al.   NATURE NEUROSCIENCE

Mammalian Target of Rapamycin Complex I (mTORC1) Activity in Ras Homologue Enriched in Brain (Rheb)-Deficient Mouse Embryonic Fibroblasts

(2013) Marlous J. Groenewoud et al.   PLoS One

Prenatal Rapamycin Results in Early and Late Behavioral Abnormalities in Wildtype C57Bl/6 Mice

(2012) Peter T. Tsai et al.   BEHAVIOR GENETICS

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

(2012) A. James Barkovich et al.   BRAIN

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

Enhanced GABAergic network and receptor function in pediatric cortical dysplasia Type IIB compared with Tuberous Sclerosis Complex

(2011) Carlos Cepeda et al.   NEUROBIOLOGY OF DISEASE

mTOR: A pathogenic signaling pathway in developmental brain malformations

(2011) Peter B. Crino   TRENDS IN MOLECULAR MEDICINE

mTOR Signaling

(2011) M. Laplante et al.   Cold Spring Harbor Perspectives in Biology

Automated analysis of neuronal morphology, synapse number and synaptic recruitment

(2010) Sabine K. Schmitz et al.   JOURNAL OF NEUROSCIENCE METHODS

Tsc2-Rheb signaling regulates EphA-mediated axon guidance

(2010) Duyu Nie et al.   NATURE NEUROSCIENCE

Development, specification, and diversity of callosal projection neurons

(2010) Ryann M. Fame et al.   TRENDS IN NEUROSCIENCES

TI-VAMP/VAMP7 and VAMP3/cellubrevin: two v-SNARE proteins involved in specific steps of the autophagy/multivesicular body pathways

(2009) Claudio Marcelo Fader et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Early Deficits in Spatial Memory and Theta Rhythm in Experimental Temporal Lobe Epilepsy

(2009) L. Chauviere et al.   JOURNAL OF NEUROSCIENCE

Are cortical tubers epileptogenic? Evidence from electrocorticography

(2008) Philippe Major et al.   EPILEPSIA

Tuberous sclerosis complex proteins control axon formation

(2008) Y.-J. Choi et al.   GENES & DEVELOPMENT

Intralesional recordings and epileptogenic zone in focal polymicrogyria

(2007) Francine Chassoux et al.   EPILEPSIA