FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

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

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

Familial recurrences ofFOXG1-related disorder: Evidence for mosaicism

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

The hyperkinetic movement disorder ofFOXG1-related epileptic-dyskinetic encephalopathy

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

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond

(2015) Matthew T. Sweney et al.   PEDIATRIC NEUROLOGY

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

A haploinsufficiency of FOXG1 identified in a boy with congenital variant of Rett syndrome

(2013) Akira Kumakura et al.   BRAIN & DEVELOPMENT

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

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

Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement ofFOXG1appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus

(2012) Gijs W E Santen et al.   JOURNAL OF MEDICAL GENETICS

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

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

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

(2011) R De Filippis et al.   CLINICAL 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

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

The longitudinal nonparametric test as a new tool to explore gene-gene and gene-time effects in cohorts

(2010) D. Malzahn et al.   GENETIC EPIDEMIOLOGY

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

(2010) Tangui Le Guen et al.   NEUROGENETICS

Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature

(2009) Francois Dominique Jacob et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

14q12 Microdeletion syndrome and congenital variant of Rett syndrome

(2009) Maria Antonietta Mencarelli et al.   European Journal of Medical Genetics

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

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

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features

(2008) Filomena Tiziana Papa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A