Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulatorNPRL3
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Title
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulatorNPRL3
Authors
Keywords
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Journal
ANNALS OF NEUROLOGY
Volume 79, Issue 1, Pages 132-137
Publisher
Wiley
Online
2015-08-19
DOI
10.1002/ana.24502
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Related references
Note: Only part of the references are listed.- Somatic Mutations in theMTORgene cause focal cortical dysplasia type IIb
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- Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility
- (2014) Richard J. Leventer et al. EPILEPSIA
- Mutations in DEPDC5 cause familial focal epilepsy with variable foci
- (2013) Leanne M Dibbens et al. NATURE GENETICS
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- (2013) Slavé Petrovski et al. PLoS Genetics
- 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
- Analysis of TSC Cortical Tubers by Deep Sequencing of TSC1, TSC2 and KRAS Demonstrates that Small Second-Hit Mutations in these Genes are Rare Events
- (2010) Wei Qin et al. BRAIN PATHOLOGY
- 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
- Biallelic TSC gene inactivation in tuberous sclerosis complex
- (2010) P. B. Crino et al. NEUROLOGY
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