FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms

Auditory Brainstem Implants: Recent Progress and Future Perspectives

(2019) Kevin Wong et al.   Frontiers in Neuroscience

Disruption of Foxg1 impairs neural plasticity leading to social and cognitive behavioral defects

(2019) Baocong Yu et al.   Molecular Brain

Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation

(2018) Kotoha Harada et al.   BRAIN & DEVELOPMENT

Foxg1 Overexpression in Neocortical Pyramids Stimulates Dendrite Elongation Via Hes1 and pCreb1 Upregulation

(2018) Simone Chiola et al.   CEREBRAL CORTEX

Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1 -related syndrome

(2018) Camilla Caporali et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures

(2018) Venugopal S. Vineeth et al.   GENE

FOXG1 Expression Is Elevated in Glioma and Inhibits Glioma Cell Apoptosis

(2018) Jingying Chen et al.   Journal of Cancer

Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort

(2018) Qingping Zhang et al.   GENETICS IN MEDICINE

FOXG1 Orchestrates Neocortical Organization and Cortico-Cortical Connections

(2018) Francesca Cargnin et al.   NEURON

The role of FOXG1 in the postnatal development and survival of mouse cochlear hair cells

(2018) Zuhong He et al.   NEUROPHARMACOLOGY

The Transcription Factor Foxg1 Promotes Optic Fissure Closure in the Mouse by Suppressing Wnt8b in the Nasal Optic Stalk

(2017) Rowena Smith et al.   JOURNAL OF NEUROSCIENCE

FOXG1 Syndrome: Genotype–Phenotype Association in 84 Patients with FOXG1 Variants

(2017) D. Mitter et al.   NEUROPEDIATRICS

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

(2017) Silvia Vidal et al.   Scientific Reports

Dendrite and spine modifications in autism and related neurodevelopmental disorders in patients and animal models

(2016) Verónica Martínez-Cerdeño   Developmental Neurobiology

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

(2016) Katherine L. Helbig et al.   GENETICS IN MEDICINE

Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies

(2016) Mandy Ma et al.   JOURNAL OF PEDIATRICS

Delineation of the movement disorders associated withFOXG1mutations: Table 1

(2016) Apostolos Papandreou et al.   NEUROLOGY

Visual impairment in FOXG1-mutated individuals and mice

(2016) E.M. Boggio et al.   NEUROSCIENCE

The FOXG1/FOXO/SMAD network balances proliferation and differentiation of cortical progenitors and activates Kcnh3 expression in mature neurons

(2016) Riccardo Vezzali et al.   Oncotarget

An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis

(2016) Jihoon G. Yoon et al.   Annals of Laboratory Medicine

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome

(2015) Heather E. Olson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Familial recurrences ofFOXG1-related disorder: Evidence for mosaicism

(2015) Kelly Q. McMahon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders

(2015) Jessica Mariani et al.   CELL

The hyperkinetic movement disorder ofFOXG1-related epileptic-dyskinetic encephalopathy

(2015) Elena Cellini et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1 +/− patients and in foxg1 +/− mice

(2015) Tommaso Patriarchi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

FOXG1 expression shows correlation with neuronal differentiation in cerebellar development, aggressive phenotype in medulloblastomas, and survival in a xenograft model of medulloblastoma

(2015) Adekunle M. Adesina et al.   HUMAN PATHOLOGY

Forkhead Box G1 Gene Haploinsufficiency: An Emerging Cause of Dyskinetic Encephalopathy of Infancy

(2015) Matteo Cassina et al.   NEUROPEDIATRICS

A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder

(2014) Gaetano Terrone et al.   EPILEPSIA

Epilepsy and outcome inFOXG1-related disorders

(2014) Laurie E. Seltzer et al.   EPILEPSIA

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

(2014) Gabriella Livide et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel mutation in Forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome

(2014) Dhanjit Kumar Das et al.   GENE

The Timing of Upper-Layer Neurogenesis Is Conferred by Sequential Derepression and Negative Feedback from Deep-Layer Neurons

(2014) K. Toma et al.   JOURNAL OF NEUROSCIENCE

Molecular and functional definition of the developing human striatum

(2014) Marco Onorati et al.   NATURE NEUROSCIENCE

Epilepsy in Patients With Duplications of Chromosome 14 Harboring FOXG1

(2014) Giuseppe Pontrelli et al.   PEDIATRIC NEUROLOGY

Dendritic spine dysgenesis in Rett syndrome

(2014) Xin Xu et al.   Frontiers in Neuroanatomy

14q12 duplication including FOXG1: Is there a common age-dependent epileptic phenotype?

(2013) Chiara Bertossi et al.   BRAIN & DEVELOPMENT

Somatic mosaicism for aFOXG1mutation: diagnostic implication

(2013) B. Diebold et al.   CLINICAL GENETICS

A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum

(2013) Masaki Takagi et al.   European Journal of Medical Genetics

Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly, trigonocephaly, and intellectual developmental disorder: A case report and review of literature

(2013) Caroline De Bruyn et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Transcriptional Repression of AIB1 by FoxG1 Leads to Apoptosis in Breast Cancer Cells

(2013) Jordan V. Li et al.   MOLECULAR ENDOCRINOLOGY

FoxG1 Interacts with Bmi1 to Regulate Self-Renewal and Tumorigenicity of Medulloblastoma Stem Cells

(2013) Branavan Manoranjan et al.   STEM CELLS

Transcription factors FOXG1 and Groucho/TLE promote glioblastoma growth

(2013) Federica Verginelli et al.   Nature Communications

Epilepsy in Rett syndrome, andCDKL5- andFOXG1-gene-related encephalopathies

(2012) Renzo Guerrini et al.   EPILEPSIA

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

(2012) Carolyn J Ellaway et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Questionable pathogenicity of FOXG1 duplication

(2012) David J Amor et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements

(2012) Lila Allou et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Foxg1 Has an Essential Role in Postnatal Development of the Dentate Gyrus

(2012) C. Tian et al.   JOURNAL OF NEUROSCIENCE

Dynamic FoxG1 Expression Coordinates the Integration of Multipolar Pyramidal Neuron Precursors into the Cortical Plate

(2012) Goichi Miyoshi et al.   NEURON

West syndrome associated with mosaic duplication ofFOXG1in a patient with maternal uniparental disomy of chromosome 14

(2011) Jun Tohyama et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Induction of excitatory and inhibitory presynaptic differentiation by GluD1

(2011) Kyounghee Ryu et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

FOXG1mutations in Japanese patients with the congenital variant of Rett syndrome

(2011) S Takahashi et al.   CLINICAL GENETICS

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics

(2011) R De Filippis et al.   CLINICAL GENETICS

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

(2011) Alex R Paciorkowski et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

(2011) F. Kortum et al.   JOURNAL OF MEDICAL GENETICS

FoxG1 Promotes the Survival of Postmitotic Neurons

(2011) S. G. Dastidar et al.   JOURNAL OF NEUROSCIENCE

Generalized dystonia, athetosis, and parkinsonism associated with FOXG1 mutation

(2011) Aurélie Méneret et al.   MOVEMENT DISORDERS

West syndrome associated with 14q12 duplications harboring FOXG1

(2011) P. Striano et al.   NEUROLOGY

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

The transcription factor Foxg1 regulates the competence of telencephalic cells to adopt subpallial fates in mice

(2010) M. Manuel et al.   DEVELOPMENT

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation and severe speech impairment

(2010) Nicola Brunetti-Pierri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization

(2010) Tangui Le Guen et al.   HUMAN MUTATION

A FOXG1 mutation in a boy with congenital variant of Rett syndrome

(2010) Tangui Le Guen et al.   NEUROGENETICS

Emx2 and Foxg1 Inhibit Gliogenesis and Promote Neuronogenesis

(2010) Marco Brancaccio et al.   STEM CELLS

Integration of Telencephalic Wnt and Hedgehog Signaling Center Activities by Foxg1

(2009) Catherine Danesin et al.   DEVELOPMENTAL CELL

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

(2009) Alison Yeung et al.   European Journal of Medical Genetics

Distinct expression of two foxg1 paralogues in zebrafish

(2009) Xiao-Feng Zhao et al.   GENE EXPRESSION PATTERNS

Bmi-1 cooperates with Foxg1 to maintain neural stem cell self-renewal in the forebrain

(2009) C. A. Fasano et al.   GENES & DEVELOPMENT

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

(2009) C. Philippe et al.   JOURNAL OF MEDICAL GENETICS

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

(2009) M. A. Mencarelli et al.   JOURNAL OF MEDICAL GENETICS

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

(2009) Nadia Bahi-Buisson et al.   NEUROGENETICS

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

(2008) Francesca Ariani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Foxg1 regulates retinal axon pathfinding by repressing an ipsilateral program in nasal retina and by causing optic chiasm cells to exert a net axonal growth-promoting activity

(2008) N. M. Tian et al.   DEVELOPMENT

Foxg1 Is Required for Development of the Vertebrate Olfactory System

(2008) C. D. Duggan et al.   JOURNAL OF NEUROSCIENCE