Mutations in the mammalian target of rapamycin pathway regulatorsNPRL2andNPRL3cause focal epilepsy

Familial focal epilepsy with focal cortical dysplasia due toDEPDC5mutations

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

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

Brain overgrowth in disorders of RTK–PI3K–AKT signaling: A mosaic of malformations

(2015) Robert F. Hevner   SEMINARS IN PERINATOLOGY

Mutations in mammalian target of rapamycin regulatorDEPDC5cause focal epilepsy with brain malformations

(2014) Ingrid E. Scheffer et al.   ANNALS OF NEUROLOGY

Spatial Control of the TSC Complex Integrates Insulin and Nutrient Regulation of mTORC1 at the Lysosome

(2014) Suchithra Menon et al.   CELL

Preliminary Functional Assessment and Classification ofDEPDC5Variants Associated with Focal Epilepsy

(2014) Melissa van Kranenburg et al.   HUMAN MUTATION

Patches of Disorganization in the Neocortex of Children with Autism

(2014) Rich Stoner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Inactivation of mTORC1 in the Developing Brain Causes Microcephaly and Affects Gliogenesis

(2013) D. Cloetta et al.   JOURNAL OF NEUROSCIENCE

Role of the mTOR signaling pathway in epilepsy

(2013) Xiang-Fei Meng et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

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

(2013) N. Panchaud et al.   Science Signaling

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

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

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

(2013) Alberto Magi et al.   GENOME BIOLOGY

Mammalian Target of Rapamycin (mTOR) Pathways in Neurological Diseases

(2013) Michael Wong   Biomedical Journal

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

(2012) Sarah E Heron 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

mTOR signaling in disease

(2011) Eva Dazert et al.   CURRENT OPINION IN CELL BIOLOGY

Cognitive and behavioral complications of frontal lobe epilepsy in children: A review of the literature

(2011) Hilde M. H. Braakman et al.   EPILEPSIA

Incidence of epilepsy: A systematic review and meta-analysis

(2011) A. K. Ngugi et al.   NEUROLOGY

Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes

(2011) Ortrud K. Steinlein et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

(2011) Katherine R Smith et al.   GENOME BIOLOGY

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

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

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

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

When drugs and surgery don’t work

(2008) Gregory D. Cascino   EPILEPSIA

The Rag GTPases Bind Raptor and Mediate Amino Acid Signaling to mTORC1

(2008) Y. Sancak et al.   SCIENCE