Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.F215L
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FOXG1

NM_005249.5:p.F215L

Associated Papers

Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.

King J et al.

Cell Reports, 2025

41124077 (PubMed )
Supplement: NIHMS2125804-supplement-2.xlsx › TableS1B

Functional defects in FOXG1 variants predict the severity of brain anomalies in FOXG1 syndrome.

Lin TY et al.

Molecular Psychiatry, 2025

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.

van der Sanden BPGH et al.

European Journal of Human Genetics : Ejhg, 2023

Combined in Silico Prediction Methods, Molecular Dynamic Simulation, and Molecular Docking of FOXG1 Missense Mutations: Effect on FoxG1 Structure and Its Interactions with DNA and Bmi-1 Protein.

Kharrat M et al.

Journal of Molecular Neuroscience : Mn, 2022

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Dawidziuk M et al.

Genes, 2021

34946966 (PubMed )
Supplement: genes-12-02014-s001.zip › Supplementary_Table_S1_Patients_details.xlsx › Patients

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

In Silico Study of Rett Syndrome Treatment-Related Genes, MECP2, CDKL5, and FOXG1, by Evolutionary Classification and Disordered Region Assessment.

Fahmi M et al.

International Journal of Molecular Sciences, 2019

31717404 (PubMed )
Supplement: ijms-20-05593-s001.zip › supplementary_table.xlsx › Table_S4

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

Wong LC et al.

International Journal of Molecular Sciences, 2019

31454984 (PubMed )
Supplement: ijms-20-04176-s001.pdf

Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders.

Han L et al.

Molecular Genetics & Genomic Medicine, 2019

31199603 (PubMed )
Supplement: MGG3-7-e00789-s001.xlsx › Table_S1

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.

Vegas N et al.

Neurology. Genetics, 2018

Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.

Liu Z et al.

Frontiers in Genetics, 2018

30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Reijnders MRF et al.

Nature Communications, 2017

29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations

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

De Filippis R et al.

Clinical Genetics, 2012

FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.

Florian C et al.

Molecular Syndromology, 2012

Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett Syndrome.

Van der Aa N et al.

Molecular Syndromology, 2011

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

Kortüm F et al.

Journal of Medical Genetics, 2011

[FOXG1, a new gene responsible for the congenital form of Rett syndrome].

Roche-Martinez A et al.

Revista De Neurologia, 2011

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

Le Guen T et al.

Neurogenetics, 2011

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

Le Guen T et al.

Human Mutation, 2011

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

Mencarelli MA et al.

Journal of Medical Genetics, 2010

[Molecular basis of Rett syndrome: A current look].

Pantaleón F G et al.

Revista Chilena De Pediatria, 0

A case of congenital Rett variant in a Chinese patient caused by a FOXG1 mutation.

Niu Y et al.

Annals of Saudi Medicine, 0

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