Modelling genetic mosaicism of neurodevelopmental disorders in vivo by a Cre-amplifying fluorescent reporter

Transient Cognitive Impairment in Epilepsy

(2019) Silvia Landi et al.   Frontiers in Molecular Neuroscience

mTOR Hyperactivity Levels Influence the Severity of Epilepsy and Associated Neuropathology in an Experimental Model of Tuberous Sclerosis Complex and Focal Cortical Dysplasia

(2019) Lena H. Nguyen et al.   JOURNAL OF NEUROSCIENCE

Pten loss results in inappropriate excitatory connectivity

(2019) Patrick D. Skelton et al.   MOLECULAR PSYCHIATRY

iSuRe-Cre is a genetic tool to reliably induce and report Cre-dependent genetic modifications

(2019) Macarena Fernández-Chacón et al.   Nature Communications

Rapid Generation of Somatic Mouse Mosaics with Locus-Specific, Stably Integrated Transgenic Elements

(2019) Gi Bum Kim et al.   CELL

Embryonic progenitor pools generate diversity in fine-scale excitatory cortical subnetworks

(2019) Tommas J. Ellender et al.   Nature Communications

Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report

(2018) Yuxia Tan et al.   BMC Medical Genetics

Detecting and Avoiding Problems When Using the Cre–lox System

(2018) Allisa J. Song et al.   TRENDS IN GENETICS

Refined protocols of tamoxifen injection for inducible DNA recombination in mouse astroglia

(2018) Hannah M. Jahn et al.   Scientific Reports

Cell-type-specific and projection-specific brain-wide reconstruction of single neurons

(2018) Rui Lin et al.   NATURE METHODS

Somatic mosaicism and neurodevelopmental disease

(2018) Alissa M. D’Gama et al.   NATURE NEUROSCIENCE

Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations

(2017) Yanmei Dou et al.   HUMAN MUTATION

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

(2017) Elaine T Lim et al.   NATURE NEUROSCIENCE

Epileptiform activity in the mouse visual cortex interferes with cortical processing in connected areas

(2017) L. Petrucco et al.   Scientific Reports

An inhibitory gate for state transition in cortex

(2017) Stefano Zucca et al.   eLife

Inducing Cre-lox Recombination in Mouse Cerebral Cortex Through In Utero Electroporation

(2017) Katherine M. Bland et al.   Jove-Journal of Visualized Experiments

PCDH19-related epilepsy in two mosaic male patients

(2016) Alessandra Terracciano et al.   EPILEPSIA

Targeted in vivo genetic manipulation of the mouse or rat brain by in utero electroporation with a triple-electrode probe

(2016) Joanna Szczurkowska et al.   Nature Protocols

Mosaicism in health and disease — clones picking up speed

(2016) Lars A. Forsberg et al.   NATURE REVIEWS GENETICS

Convulsive seizures from experimental focal cortical dysplasia occur independently of cell misplacement

(2016) Lawrence S. Hsieh et al.   Nature Communications

Arduino Due based tool to facilitate in vivo two-photon excitation microscopy

(2016) Pietro Artoni et al.   Biomedical Optics Express

The Contribution of Mosaic Variants to Autism Spectrum Disorder

(2016) Donald Freed et al.   PLoS Genetics

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

(2015) Laura A. Jansen et al.   BRAIN

Tracking and transforming neocortical progenitors by CRISPR/Cas9 gene targeting andpiggyBactransposase lineage labeling

(2015) Fuyi Chen et al.   DEVELOPMENT

Diagnostic methods and treatment options for focal cortical dysplasia

(2015) Renzo Guerrini et al.   EPILEPSIA

Sleep influences the intracerebral EEG pattern of focal cortical dysplasia

(2015) Inês Menezes Cordeiro et al.   EPILEPSY RESEARCH

Hyperactivity of Newborn Pten Knock-out Neurons Results from Increased Excitatory Synaptic Drive

(2015) M. R. Williams et al.   JOURNAL OF NEUROSCIENCE

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

(2015) Jae Seok Lim et al.   NATURE MEDICINE

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development

(2015) Seung Tae Baek et al.   NATURE MEDICINE

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening

(2014) Maria Marchese et al.   BMC Medical Genetics

Somatic Mutations in Cerebral Cortical Malformations

(2014) Saumya S. Jamuar et al.   NEW ENGLAND JOURNAL OF MEDICINE

Subcellular targeting and dynamic regulation of PTEN: implications for neuronal cells and neurological disorders

(2014) Patricia Kreis et al.   Frontiers in Molecular Neuroscience

Non-parallel recombination limits cre-loxP-based reporters as precise indicators of conditional genetic manipulation

(2013) Jing Liu et al.   GENESIS

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

Permanent Genetic Access to Transiently Active Neurons via TRAP: Targeted Recombination in Active Populations

(2013) Casey J. Guenthner et al.   NEURON

Neonatal Subventricular Zone Electroporation

(2013) David M. Feliciano et al.   Jove-Journal of Visualized Experiments

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Excessive Activation of mTOR in Postnatally Generated Granule Cells Is Sufficient to Cause Epilepsy

(2012) Raymund Y.K. Pun et al.   NEURON

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

Novel recombinant adeno-associated viruses for Cre activated and inactivated transgene expression in neurons

(2012) Arpiar Saunders et al.   Frontiers in Neural Circuits

High-performance and site-directed in utero electroporation by a triple-electrode probe

(2012) Marco dal Maschio et al.   Nature Communications

MASTR: A Technique for Mosaic Mutant Analysis with Spatial and Temporal Control of Recombination Using Conditional Floxed Alleles in Mice

(2012) Zhimin Lao et al.   Cell Reports

Fifty years of X-inactivation research

(2011) A.-V. Gendrel et al.   DEVELOPMENT

Pten Knockdown In Vivo Increases Excitatory Drive onto Dentate Granule Cells

(2011) B. W. Luikart et al.   JOURNAL OF NEUROSCIENCE

Integration and analysis of genome-scale data from gliomas

(2011) Gregory Riddick et al.   Nature Reviews Neurology

The short-time structural plasticity of dendritic spines is altered in a model of Rett syndrome

(2011) Silvia Landi et al.   Scientific Reports

Rapamycin suppresses seizures and neuronal hypertrophy in a mouse model of cortical dysplasia

(2009) M. C. Ljungberg et al.   Disease Models & Mechanisms

Neuronal migration disorders

(2009) Renzo Guerrini et al.   NEUROBIOLOGY OF DISEASE

mTOR signaling: At the crossroads of plasticity, memory and disease

(2009) Charles A. Hoeffer et al.   TRENDS IN NEUROSCIENCES

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

(2009) Christel Depienne et al.   PLoS Genetics

Comprehensive genomic characterization defines human glioblastoma genes and core pathways

(2008) Roger McLendon et al.   NATURE

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

(2008) Leanne M Dibbens et al.   NATURE GENETICS