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

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

(2016) Richard D. Bagnall et al.   ANNALS OF NEUROLOGY

Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex geneNPRL3

(2016) Georg-Christoph Korenke et al.   EPILEPSIA

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

DEPDC5mutations are not a frequent cause of familial temporal lobe epilepsy

(2015) Pasquale Striano et al.   EPILEPSIA

Diagnostic methods and treatment options for focal cortical dysplasia

(2015) Renzo Guerrini et al.   EPILEPSIA

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

(2015) Jae Seok Lim et al.   NATURE MEDICINE

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

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

(2014) F. Picard et al.   NEUROLOGY

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

(2013) C. Martin et al.   CLINICAL GENETICS

Prevention of sudden unexpected death in epilepsy: A realistic goal?

(2013) Philippe Ryvlin et al.   EPILEPSIA

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

GRIN2A mutations identified as key genetic drivers of epilepsy–aphasia spectrum disorders

(2013) Katie Kingwell   Nature Reviews Neurology

Focal malformations of cortical development: New vistas for molecular pathogenesis

(2013) K.-C. Lim et al.   NEUROSCIENCE

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

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

mTOR Signaling in Growth Control and Disease

(2012) Mathieu Laplante et al.   CELL

Sudden unexpected death in epilepsy

(2012) Rainer Surges et al.   CURRENT OPINION IN NEUROLOGY

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

Unifying the definitions of sudden unexpected death in epilepsy

(2011) Lina Nashef et al.   EPILEPSIA

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

Differential expression analysis for sequence count data

(2010) Simon Anders et al.   GENOME BIOLOGY