Mutations in the mammalian target of rapamycin pathway regulatorsNPRL2andNPRL3cause focal epilepsy
出版年份 2015 全文链接
标题
Mutations in the mammalian target of rapamycin pathway regulatorsNPRL2andNPRL3cause focal epilepsy
作者
关键词
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出版物
ANNALS OF NEUROLOGY
Volume 79, Issue 1, Pages 120-131
出版商
Wiley
发表日期
2015-10-28
DOI
10.1002/ana.24547
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
- 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
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