Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2011 1
2012 1
2017 1
2018 2
2019 1
2020 1
2021 1
2022 2
2023 4
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

11 results

Results by year

Filters applied: . Clear all
Page 1
Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry.
Brimble E, Reyes KG, Kuhathaas K, Devinsky O, Ruzhnikov MRZ, Ortiz-Gonzalez XR, Scheffer I, Bahi-Buisson N, Olson H; FOXG1 Research Foundation. Brimble E, et al. Orphanet J Rare Dis. 2023 Jun 12;18(1):149. doi: 10.1186/s13023-023-02745-y. Orphanet J Rare Dis. 2023. PMID: 37308910 Free PMC article.
BACKGROUND: We refine the clinical spectrum of FOXG1 syndrome and expand genotype-phenotype correlations through evaluation of 122 individuals enrolled in an international patient registry. METHODS: The FOXG1 syndrome online patient registry allows for …
BACKGROUND: We refine the clinical spectrum of FOXG1 syndrome and expand genotype-phenotype correlations through evaluation of …
The clinical and sleep manifestations in children with FOXG1 syndrome.
Wong LC, Huang CH, Chou WY, Hsu CJ, Tsai WC, Lee WT. Wong LC, et al. Autism Res. 2023 May;16(5):953-966. doi: 10.1002/aur.2916. Epub 2023 Mar 21. Autism Res. 2023. PMID: 36942618
A total of 258 individuals with FOXG1 syndrome were included in this research. 132 (51.16%) had sleep disturbances. ...Sleep disturbances, especially in initiating and maintaining sleep, are common in individuals with FOXG1 syndrome and their caregiver …
A total of 258 individuals with FOXG1 syndrome were included in this research. 132 (51.16%) had sleep disturbances. ...Sleep d …
Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome.
Bjerregaard VA, Levy AM, Batz MS, Salehi R, Hildonen M, Hammer TB, Møller RS, Desler C, Tümer Z. Bjerregaard VA, et al. Genes (Basel). 2023 Jan 17;14(2):246. doi: 10.3390/genes14020246. Genes (Basel). 2023. PMID: 36833172 Free PMC article.
FOXG1 (Forkhead box g1) syndrome is a neurodevelopmental disorder caused by a defective transcription factor, FOXG1, important for normal brain development and function. As FOXG1 syndrome and mitochondrial disorders have shared symptoms and FOXG1 regulates mitochond …
FOXG1 (Forkhead box g1) syndrome is a neurodevelopmental disorder caused by a defective transcription factor, FOXG1, important for normal br …
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
Pringsheim M, Mitter D, Schröder S, Warthemann R, Plümacher K, Kluger G, Baethmann M, Bast T, Braun S, Büttel HM, Conover E, Courage C, Datta AN, Eger A, Grebe TA, Hasse-Wittmer A, Heruth M, Höft K, Kaindl AM, Karch S, Kautzky T, Korenke GC, Kruse B, Lutz RE, Omran H, Patzer S, Philippi H, Ramsey K, Rating T, Rieß A, Schimmel M, Westman R, Zech FM, Zirn B, Ulmke PA, Sokpor G, Tuoc T, Leha A, Staudt M, Brockmann K. Pringsheim M, et al. Ann Clin Transl Neurol. 2019 Mar 3;6(4):655-668. doi: 10.1002/acn3.735. eCollection 2019 Apr. Ann Clin Transl Neurol. 2019. PMID: 31019990 Free PMC article.
OBJECTIVE: FOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous FOXG1 variants or chromosomal microaberrations in 14q12. ...INTERPRETATION: Combination of specific corpus callosum anomalies with simplified gyral pattern and hyperplasia o …
OBJECTIVE: FOXG1 syndrome is a rare neurodevelopmental disorder associated with heterozygous FOXG1 variants or chromosomal mic …
Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders.
Brea-Fernández AJ, Souto-Trinei FA, Iglesias E, Caamaño P, Rodríguez Sánchez B, Gómez Lado C, Eiris J, Fernández-Prieto M, Barros F, Brea RJ, Carracedo Á. Brea-Fernández AJ, et al. Cytogenet Genome Res. 2023;163(5-6):301-306. doi: 10.1159/000535660. Epub 2023 Dec 6. Cytogenet Genome Res. 2023. PMID: 38056433
We have detected a missense variant within the BTB domain of ZBTB18 in two affected monozygotic twins. In addition, we observed agenesis of the septum pellucidum in a missense FOXG1 carrier with a severe FOXG1 syndrome. ...Genetic or environmental factors may …
We have detected a missense variant within the BTB domain of ZBTB18 in two affected monozygotic twins. In addition, we observed agene …
FOXG1 dose tunes cell proliferation dynamics in human forebrain progenitor cells.
Hettige NC, Peng H, Wu H, Zhang X, Yerko V, Zhang Y, Jefri M, Soubannier V, Maussion G, Alsuwaidi S, Ni A, Rocha C, Krishnan J, McCarty V, Antonyan L, Schuppert A, Turecki G, Fon EA, Durcan TM, Ernst C. Hettige NC, et al. Stem Cell Reports. 2022 Mar 8;17(3):475-488. doi: 10.1016/j.stemcr.2022.01.010. Epub 2022 Feb 10. Stem Cell Reports. 2022. PMID: 35148845 Free PMC article.
Heterozygous loss-of-function mutations in Forkhead box G1 (FOXG1), a uniquely brain-expressed gene, cause microcephaly, seizures, and severe intellectual disability, whereas increased FOXG1 expression is frequently observed in glioblastoma. To investigate the role of FOXG …
Heterozygous loss-of-function mutations in Forkhead box G1 (FOXG1), a uniquely brain-expressed gene, cause microcephaly, seizures, and sever …
Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region.
Ye XC, Roslin NM, Paterson AD, Lyons CJ, Pegado V, Richmond P, Shyr C, Fornes O, Han X, Higginson M, Ross CJ, Giaschi D, Gregory-Evans C, Patel MS, Wasserman WW. Ye XC, et al. J Med Genet. 2022 Jan;59(1):46-55. doi: 10.1136/jmedgenet-2020-107226. Epub 2020 Nov 30. J Med Genet. 2022. PMID: 33257509 Free PMC article.
A single linkage signal has been identified at an 8.5 Mb region of chromosome 14q12 with a multipoint LOD (logarithm of the odds) score of 4.69. Disruption of this locus is known to cause FOXG1 syndrome (or congenital Rett syndrome; OMIM #613454 and *164874), …
A single linkage signal has been identified at an 8.5 Mb region of chromosome 14q12 with a multipoint LOD (logarithm of the odds) score …
Regulatory variants of FOXG1 in the context of its topological domain organisation.
Mehrjouy MM, Fonseca ACS, Ehmke N, Paskulin G, Novelli A, Benedicenti F, Mencarelli MA, Renieri A, Busa T, Missirian C, Hansen C, Abe KT, Speck-Martins CE, Vianna-Morgante AM, Bak M, Tommerup N. Mehrjouy MM, et al. Eur J Hum Genet. 2018 Feb;26(2):186-196. doi: 10.1038/s41431-017-0011-4. Epub 2017 Dec 30. Eur J Hum Genet. 2018. PMID: 29289958 Free PMC article.
FOXG1 syndrome is caused by FOXG1 intragenic point mutations, or by long-range position effects (LRPE) of intergenic structural variants. ...Herein we map three de novo translocation breakpoints to the proximal regulatory domain of FOXG1. The classical FOXG1 …
FOXG1 syndrome is caused by FOXG1 intragenic point mutations, or by long-range position effects (LRPE) of intergenic structura …
Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics.
De Filippis R, Pancrazi L, Bjørgo K, Rosseto A, Kleefstra T, Grillo E, Panighini A, Cardarelli F, Meloni I, Ariani F, Mencarelli MA, Hayek J, Renieri A, Costa M, Mari F. De Filippis R, et al. Clin Genet. 2012 Oct;82(4):395-403. doi: 10.1111/j.1399-0004.2011.01810.x. Epub 2011 Dec 13. Clin Genet. 2012. PMID: 22091895
Recently seven additional patients have been reported with a quite homogeneous severe phenotype designated as the FOXG1 syndrome. Here we describe two unrelated patients with a de novo FOXG1 point mutation, p.Gln46X and p.Tyr400X, respectively, having a milder pheno …
Recently seven additional patients have been reported with a quite homogeneous severe phenotype designated as the FOXG1 syndrome …
Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome.
Wilpert NM, Marguet F, Maillard C, Guimiot F, Martinovic J, Drunat S, Attié-Bitach T, Razavi F, Tessier A, Capri Y, Laquerrière A, Bahi-Buisson N. Wilpert NM, et al. Eur J Med Genet. 2021 Sep;64(9):104282. doi: 10.1016/j.ejmg.2021.104282. Epub 2021 Jul 17. Eur J Med Genet. 2021. PMID: 34284163
The Forkhead transcription factor FOXG1 is a prerequisite for telencephalon development in mammals and is an essential factor controlling expansion of the dorsal telencephalon by promoting neuron and interneuron production. Heterozygous FOXG1 gene mutations cause FOXG1 …
The Forkhead transcription factor FOXG1 is a prerequisite for telencephalon development in mammals and is an essential factor controlling ex …
11 results