Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy

A mouse model of DEPDC5 -related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility

(2018) Christopher J. Yuskaitis et al.   NEUROBIOLOGY OF DISEASE

De novo mutation in DEPDC5 associated with unilateral pachygyria and intractable epilepsy

(2017) Zhidong Cen et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling

(2017) James Hughes et al.   Scientific Reports

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia

(2016) Sarah Weckhuysen et al.   EPILEPSIA

Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study

(2016) Jacqueline A French et al.   LANCET

Depdc5 knockout rat: A novel model of mTORopathy

(2016) Elise Marsan et al.   NEUROBIOLOGY OF DISEASE

Association ofMTORMutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

(2016) Ghayda M. Mirzaa et al.   JAMA Neurology

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulatorNPRL3

(2015) Joe C. Sim et al.   ANNALS OF 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

Mutations in the mammalian target of rapamycin pathway regulatorsNPRL2andNPRL3cause focal epilepsy

(2015) Michael G. Ricos et al.   ANNALS OF NEUROLOGY

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

(2015) Laura A. Jansen et al.   BRAIN

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

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR

(2015) R. J. Leventer et al.   NEUROLOGY

Regulation of Hematopoiesis and Methionine Homeostasis by mTORC1 Inhibitor NPRL2

(2015) Paul A. Dutchak et al.   Cell Reports

Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy

(2015) Achira Roy et al.   eLife

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

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

Basic Mechanisms of Epileptogenesis in Pediatric Cortical Dysplasia

(2014) Sara Abdijadid et al.   CNS Neuroscience & Therapeutics

Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility

(2014) Richard J. Leventer et al.   EPILEPSIA

Molecular Architecture and Function of the SEA Complex, a Modulator of the TORC1 Pathway

(2014) Romain Algret et al.   MOLECULAR & CELLULAR PROTEOMICS

Epilepsy Related to Developmental Tumors and Malformations of Cortical Development

(2014) Eleonora Aronica et al.   Neurotherapeutics

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

(2014) Joan Liu et al.   Acta Neuropathologica Communications

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

(2013) Saeko Ishida et al.   NATURE GENETICS

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

(2013) Leanne M Dibbens et al.   NATURE GENETICS

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

Somatic Mutation, Genomic Variation, and Neurological Disease

(2013) A. Poduri et al.   SCIENCE

Amino Acid Deprivation Inhibits TORC1 Through a GTPase-Activating Protein Complex for the Rag Family GTPase Gtr1

(2013) N. Panchaud et al.   Science Signaling

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

Fetal Brain mTOR Signaling Activation in Tuberous Sclerosis Complex

(2012) Victoria Tsai et al.   CEREBRAL CORTEX

Nprl3 is required for normal development of the cardiovascular system

(2012) Monika S. Kowalczyk et al.   MAMMALIAN GENOME

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

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

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

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