GATOR1 complex: the common genetic actor in focal epilepsies

DEPDC5mutations in epilepsy with auditory features

(2016) Francesca Bisulli et al.   EPILEPSIA

Depdc5 knockout rat: A novel model of mTORopathy

(2016) Elise Marsan et al.   NEUROBIOLOGY OF DISEASE

Definition and diagnostic criteria of sleep-related hypermotor epilepsy

(2016) Paolo Tinuper et al.   NEUROLOGY

mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis

(2016) Rita Citraro et al.   PHARMACOLOGICAL RESEARCH

Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy

(2015) Emanuela Dazzo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

DEPDC5mutations are not a frequent cause of familial temporal lobe epilepsy

(2015) Pasquale Striano et al.   EPILEPSIA

SEA you later alli-GATOR - a dynamic regulator of the TORC1 stress response pathway

(2015) S. Dokudovskaya et al.   JOURNAL OF CELL SCIENCE

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

(2015) Jae Seok Lim et al.   NATURE MEDICINE

Mechanistic Target of Rapamycin (mTOR) in Tuberous Sclerosis Complex-Associated Epilepsy

(2015) Paolo Curatolo   PEDIATRIC NEUROLOGY

Genotype/Phenotype Correlations in Tuberous Sclerosis Complex

(2015) Paolo Curatolo et al.   Seminars in Pediatric Neurology

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

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

DEPDC5mutations in genetic focal epilepsies of childhood

(2014) Dennis Lal et al.   ANNALS OF NEUROLOGY

The TORC1 inhibitors Nprl2 and Nprl3 mediate an adaptive response to amino-acid starvation in Drosophila

(2014) Y Wei et al.   CELL DEATH AND DIFFERENTIATION

Preliminary Functional Assessment and Classification ofDEPDC5Variants Associated with Focal Epilepsy

(2014) Melissa van Kranenburg et al.   HUMAN MUTATION

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

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

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

(2014) F. Picard et al.   NEUROLOGY

The Neurology of mTOR

(2014) Jonathan O. Lipton et al.   NEURON

Regulation of mTORC1 by amino acids

(2014) Liron Bar-Peled et al.   TRENDS IN CELL BIOLOGY

mTOR signaling and its roles in normal and abnormal brain development

(2014) Nobuyuki Takei et al.   Frontiers in Molecular Neuroscience

Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation

(2014) Candi L. LaSarge et al.   Frontiers in Molecular Neuroscience

NovelDEPDC5mutations causing familial focal epilepsy with variable foci identified

(2013) A Kaur   CLINICAL GENETICS

A recurrent mutation inDEPDC5predisposes to focal epilepsies in the French-Canadian population

(2013) C. Martin et al.   CLINICAL GENETICS

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

(2013) Michael Wong   Expert Review of Neurotherapeutics

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

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

Discovery of DEPDC5 mutations provides further evidence of a genetic link to inherited focal epilepsies

(2013) Katy Malpass   Nature Reviews Neurology

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

mTOR inhibitors in cancer therapy

(2012) Yekaterina Y. Zaytseva et al.   CANCER LETTERS

mTOR Signaling in Growth Control and Disease

(2012) Mathieu Laplante et al.   CELL

Deconvoluting mTOR biology

(2012) Jason D. Weber et al.   CELL CYCLE

Fetal Brain mTOR Signaling Activation in Tuberous Sclerosis Complex

(2012) Victoria Tsai et al.   CEREBRAL CORTEX

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

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer

(2012) R. K. Nookala et al.   Open Biology

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

(2012) Dapeng Zhang et al.   Frontiers in Genetics

A Molecular Chaperone Mediates a Two-protein Enzyme Complex and Glycosylation of Serine-rich Streptococcal Adhesins

(2011) Ren Wu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Conserved Coatomer-related Complex Containing Sec13 and Seh1 Dynamically Associates With the Vacuole inSaccharomyces cerevisiae

(2011) Svetlana Dokudovskaya et al.   MOLECULAR & CELLULAR PROTEOMICS

Incidence of epilepsy: A systematic review and meta-analysis

(2011) A. K. Ngugi et al.   NEUROLOGY

Characterization of PF-4708671, a novel and highly specific inhibitor of p70 ribosomal S6 kinase (S6K1)

(2010) Laura R. Pearce et al.   BIOCHEMICAL JOURNAL

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

Assessment and surgical outcomes for mild type I and severe type II cortical dysplasia: A critical review and the UCLA experience

(2009) Jason T. Lerner et al.   EPILEPSIA

A Genome-Wide Screen for Regulators of TORC1 in Response to Amino Acid Starvation Reveals a Conserved Npr2/3 Complex

(2009) Taavi K. Neklesa et al.   PLoS Genetics

Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex

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

Evaluation of epileptogenic networks in children with tuberous sclerosis complex using EEG-fMRI

(2008) Julia Jacobs et al.   EPILEPSIA

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

Role of mTOR in physiology and pathology of the nervous system

(2007) Lukasz Swiech et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS