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
2013 1
2014 2
2015 1
2016 1
2017 4
2018 5
2019 2
2020 5
2021 3
2022 5
2023 6
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

29 results

Results by year

Filters applied: . Clear all
Page 1
Rett and Rett-related disorders: Common mechanisms for shared symptoms?
D'Mello SR. D'Mello SR. Exp Biol Med (Maywood). 2023 Nov;248(22):2095-2108. doi: 10.1177/15353702231209419. Epub 2023 Dec 6. Exp Biol Med (Maywood). 2023. PMID: 38057990 Review.
Rett syndrome is a neurodevelopmental disorder caused by loss-of-function mutations in the methyl-CpG binding protein-2 (MeCP2) gene that is characterized by epilepsy, intellectual disability, autistic features, speech deficits, and sleep and breathing abnormalities
Rett syndrome is a neurodevelopmental disorder caused by loss-of-function mutations in the methyl-CpG binding protein-2 (MeCP2
Paving Therapeutic Avenues for FOXG1 Syndrome: Untangling Genotypes and Phenotypes from a Molecular Perspective.
Akol I, Gather F, Vogel T. Akol I, et al. Int J Mol Sci. 2022 Jan 16;23(2):954. doi: 10.3390/ijms23020954. Int J Mol Sci. 2022. PMID: 35055139 Free PMC article. Review.
Mutations in the FOXG1 gene cause a rare neurodevelopmental disorder called FOXG1 syndrome, also known as congenital form of Rett syndrome. Patients presenting with FOXG1 syndrome manifest a spectrum of phenotypes, ranging from sev …
Mutations in the FOXG1 gene cause a rare neurodevelopmental disorder called FOXG1 syndrome, also known as congenital fo …
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 …
Zika virus induces FOXG1 nuclear displacement and downregulation in human neural progenitors.
Lottini G, Baggiani M, Chesi G, D'Orsi B, Quaranta P, Lai M, Pancrazi L, Onorati M, Pistello M, Freer G, Costa M. Lottini G, et al. Stem Cell Reports. 2022 Jul 12;17(7):1683-1698. doi: 10.1016/j.stemcr.2022.05.008. Epub 2022 Jun 16. Stem Cell Reports. 2022. PMID: 35714598 Free PMC article.
Congenital alterations in the levels of the transcription factor Forkhead box g1 (FOXG1) coding gene trigger "FOXG1 syndrome," a spectrum that recapitulates birth defects found in the "congenital Zika syndrome," such as microcephaly and other neurodeve
Congenital alterations in the levels of the transcription factor Forkhead box g1 (FOXG1) coding gene trigger "FOXG1 syndrom
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, Abou Jamra R, Baethmann M, Bast T, Büttel HM, Cohen JS, Conover E, Courage C, Eger A, Fatemi A, Grebe TA, Hauser NS, Heinritz W, Helbig KL, Heruth M, Huhle D, Höft K, Karch S, Kluger G, Korenke GC, Lemke JR, Lutz RE, Patzer S, Prehl I, Hoertnagel K, Ramsey K, Rating T, Rieß A, Rohena L, Schimmel M, Westman R, Zech FM, Zoll B, Malzahn D, Zirn B, Brockmann K. Mitter D, et al. Genet Med. 2018 Jan;20(1):98-108. doi: 10.1038/gim.2017.75. Epub 2017 Jun 29. Genet Med. 2018. PMID: 28661489 Free article.
PurposeThe study aimed at widening the clinical and genetic spectrum and assessing genotype-phenotype associations in FOXG1 syndrome due to FOXG1 variants.MethodsWe compiled 30 new and 53 reported patients with a heterozygous pathogenic or likely pathogenic variant …
PurposeThe study aimed at widening the clinical and genetic spectrum and assessing genotype-phenotype associations in FOXG1 syndro
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 …
Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study.
Neul JL, Benke TA, Marsh ED, Suter B, Silveira L, Fu C, Peters SU, Percy AK; Rett syndrome Natural History Study Group. Neul JL, et al. J Neurodev Disord. 2023 Oct 13;15(1):33. doi: 10.1186/s11689-023-09502-z. J Neurodev Disord. 2023. PMID: 37833681 Free PMC article.
OBJECTIVE: Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled the discovery of novel therapeutic approaches that require formal clinical evaluation of efficacy. ...Comparison across disorders found commonali …
OBJECTIVE: Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled the d …
FOXG1 Orchestrates Neocortical Organization and Cortico-Cortical Connections.
Cargnin F, Kwon JS, Katzman S, Chen B, Lee JW, Lee SK. Cargnin F, et al. Neuron. 2018 Dec 5;100(5):1083-1096.e5. doi: 10.1016/j.neuron.2018.10.016. Epub 2018 Nov 1. Neuron. 2018. PMID: 30392794 Free PMC article.
The hallmarks of FOXG1 syndrome, which results from mutations in a single FOXG1 allele, include cortical atrophy and corpus callosum agenesis. ...Together, this study reveals a novel gene regulatory pathway that specifies neuronal characteristics during cerebral cor …
The hallmarks of FOXG1 syndrome, which results from mutations in a single FOXG1 allele, include cortical atrophy and corpus ca …
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 …
29 results