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

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

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

A Diverse Array of Cancer-Associated MTOR Mutations Are Hyperactivating and Can Predict Rapamycin Sensitivity

(2014) B. C. Grabiner et al.   Cancer Discovery

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

(2014) Joan Liu et al.   Acta Neuropathologica Communications

mTOR-dependent abnormalities in autophagy characterize human malformations of cortical development: evidence from focal cortical dysplasia and tuberous sclerosis

(2013) Shireena A. Yasin et al.   ACTA NEUROPATHOLOGICA

Everolimus treatment of refractory epilepsy in tuberous sclerosis complex

(2013) Darcy A. Krueger et al.   ANNALS OF NEUROLOGY

mTOR kinase structure, mechanism and regulation

(2013) Haijuan Yang et al.   NATURE

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

The role of replicates for error mitigation in next-generation sequencing

(2013) Kimberly Robasky et al.   NATURE REVIEWS GENETICS

Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

(2013) Matthew D. Shirley et al.   NEW ENGLAND JOURNAL OF MEDICINE

Somatic Mutation, Genomic Variation, and Neurological Disease

(2013) A. Poduri et al.   SCIENCE

Virmid: accurate detection of somatic mutations with sample impurity inference

(2013) Sangwoo Kim et al.   GENOME BIOLOGY

Detection of human papillomavirus in human focal cortical dysplasia type IIB

(2012) Julie Chen et al.   ANNALS OF NEUROLOGY

Malformations of Cortical Development

(2012) Eleonora Aronica et al.   BRAIN PATHOLOGY

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière 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

Focal cortical dysplasia type IIa and IIb: MRI aspects in 118 cases proven by histopathology

(2012) Nadia Colombo et al.   NEURORADIOLOGY

Neuroimaging in identifying focal cortical dysplasia and prognostic factors in pediatric and adolescent epilepsy surgery

(2011) Yoon Hee Kim et al.   EPILEPSIA

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

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing

(2011) Joke Reumers et al.   NATURE BIOTECHNOLOGY

mTOR: A pathogenic signaling pathway in developmental brain malformations

(2011) Peter B. Crino   TRENDS IN MOLECULAR MEDICINE

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

Everolimus for Subependymal Giant-Cell Astrocytomas in Tuberous Sclerosis

(2010) Darcy A. Krueger et al.   NEW ENGLAND JOURNAL OF MEDICINE

Focal brain malformations: Seizures, signaling, sequencing

(2009) Peter B. Crino   EPILEPSIA

Focal cortical dysplasia type II: biological features and clinical perspectives

(2009) Sanjay M Sisodiya et al.   LANCET NEUROLOGY

Different features of histopathological subtypes of pediatric focal cortical dysplasia

(2008) Pavel Krsek et al.   ANNALS OF NEUROLOGY

Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex

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