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FOXG1 syndrome
Other namesFOXG1-related epileptic-dyskinetic encephalopathy, Rett syndrome, congenital variant.[1][2]
FOXG1 syndrome is inherited in an Autosomal dominant fashion
SpecialtyMedical genetics, Neurology
Usual onsetFrom birth
CausesMutation in a gene FOXG1
Differential diagnosisRett syndrome, CDKL5 deficiency disorder, Angelman syndrome
TreatmentPhysical therapy,Anti-dyskinetic medications, Antiseizure medication
Frequency1:30 000 live births

FOXG1 syndrome (sometimes FOXG1-related disorder) is a rare genetic disorder caused by mutation in the gene FOXG1.[3] The main signs of this disease are: severe intellectual disability, microcephaly, epilepsy, and hyperkinetic-dyskinetic movement disorder and hypotonia with brain structure anomalies.[4][5]

FOXG1 syndrome is inherited in autosomal dominant fashion.[6] The syndrome affects about 1/30 000 births, with about 1200 cases having been reported as of January 1, 2025.[7]

Symptoms

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Most frequently, people with FOXG1 syndrome have abnormal hand movements, problems with walking, dyskinesia, difficulties with feeding, hypotonia, strabismus, progressive microcephaly, and anomalies of the corpus callosum. They also frequently exhibit absence of speech, autistic behavior, teeth grinding or clenching, delayed myelination, bilateral tonic-clonic seizures, choreoathetosis, intellectual disability, gastroesophageal reflux disease (GERD), weight loss, constipation, sialorrhea (drooling), frequent crying without apparent cause, frequent laughing, muscle spasticity, vision problems, tardive dyskinesias, poor eye contact, myoclonic jerks, postnatal growth failure, and short stature. Occasionally, patients may also experience abnormal breathing, scoliosis with or without kyphosis, hypoplasia of the optic disk, poor speech, inability to ambulate, developmental regression, and pachygyria. In very rare cases, they might have repeated seizures without recovery.[8][9][10]

Diagnosis

[edit]

The diagnostic criteria for FOXG1 syndrome have been established. Major diagnostic criteria include a de novo mutation in the FOXG1 gene, intellectual disability, an uneventful prenatal period, onset of symptoms within the first months of life, secondary microcephaly, poor muscle tone, severely delayed development with absent speech, and EEG abnormalities. Minor criteria include an irritable mood, facial dysmorphism (such as widely spaced eyes, anteverted ears, and a bulging forehead), strabismus (squint), teeth grinding, GERD, constipation, seizures, sleep pattern anomalies, dystonia, stereotypies, and autistic behaviors.[11][12]

Cause

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FOXG1 syndrome is caused by heterozygous mutations in the gene FOXG1. This gene provides instructions for making the protein Forkhead box protein G1 (FOXG1).[6][9] Most people with FOXG1 syndrome have a new mutation (which means that mutation is new and none of the parents have it), although there have been cases of person inheriting the pathogenic variant of FOXG1 from a healthy parent due to somatic mosaicism.[13][14][15][16]

Pathophysiology

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Cortical stem cell growth

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The FOXG1 protein is widely expressed in the brain and is crucial for cortical development (the process by which the cerebral cortex is formed in mammals).[17] One of FOXG1's key functions is regulating the cell cycle of neural progenitor cells by promoting proliferation and preventing premature neural differentiation. Loss of FOXG1 results in a longer cell cycle and neural stem cells leave the cell cycle too early, leading to fewer new brain cells being made.[18][19][20]

FOXG1 counteracts the FOXO/SMAD pathway, which normally stimulates cortical neuron differentiation. Through this counteraction, FOXG1 reduces the expression of p21, a low level of p21 contributes to the expansion of the neural stem cell pool and prevents early cell cycle exit.[21][22]

Induction of cortical laminar subtypes by FOXG1

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FOXG1 directs multiple laminar fate decisions during cerebrum development. During corticogenesis, cortical neurons are sequentially produced, migrate, and integrate into their destined layers. The onset of FOXG1 in progenitor cells halts the production of TBR1-expressing layer 1/6 neurons and switches to producing FEZF2/CTIP2-expressing layer 5 neurons. Later, in early postmitotic neurons, FOXG1 inhibits COUP-TFI, shifting neuronal production from RORβ-expressing layer 4 neurons to SATB2/BRN2-expressing layer 2/3 neurons.[23]

Alongside the expansion of the progenitor cell pool through control of cell cycle regulators, the onset of FOXG1 expression in the forming forebrain activates a series of genetic and molecular processes in corticogenesis.[23] FOXG1 is also involved in dorsoventral patterning (the process by which embryonic stem cells adopt different fates depending on their location) of the telencephalon, helping to establish future compartments and specify cell types through widespread changes in gene expression.[24] Future compartments and specify cell types through widespread changes in gene expression. The activation of FOXG1 and the early patterning of the forebrain seems to be primarily maintained across vertebrates, where compartmentalization of the forebrain is established by cooperative interactions between morphogens and transcription factors. In the telencephalic territory, SIX3 expressed in the anterior neural plate, which competes with FOXG1 expression, whereby FGF8 which is expressed in the anterior neural ridge induces FOXG1 and helps to organize the telencephalic region.[25][26][27]

When the telencephalon's compartments have been established, FOXG1 regulates neuron specification. Progenitor cells divide asymmetrically and begin producing TBR1-expressing neurons, which become layer 1 and layer 6 neurons at the surface and the deepest regions of the cortical plate. Progenitor cells further produce layer 5 FEZF2- and BCL11B/CTIP2-expressing corticospinal projection cells, followed by RORβ-expressing sensory input cells, and then layer 2/3 SATB2 and POU3F2/BRN2-expressing callosal projection neurons. These neurons merge into the cortical plate through an inside-out layering pattern, where more recently generated neurons migrate past those that were born earlier, settling in the surface region. Notably, while FOXG1 is expressed in many of the cortical progenitor cells and neurons, its function differs between subtypes and varies in a spatiotemporal manner (by progenitor cell proliferation and neuronal differentiation mechanism) (spatiotemporal gene expression is the process by which genes in particular organ tissues become active at particular stages of development) .[28][29][30][31]

The onset of FOXG1 expression in progenitor cells ends the production of the earliest born neurons, in other words, Cajal-Retzius cells, through direct suppression of a major transcriptional network. This network comprises, as shown by transcriptome analysis and FOXG1-ChIP sequencing, TBR1, DMRTA1, EBF2, and EBF3.[32][28][33]

The timely negative regulation of FOXG1 by EGR2, a target of TGFβ, occurs in the lower intermediate zone where cells are shifting out of the cell cycle, leading to the activation of Nr2f1/COUP-TFI, which enables layer 4 cell competence. In contrast, the absence of EGR2 target sites raises Foxg1 expression and paves the way for the development of SATB2/BRN2-positive callosal projection neurons (neurons which connect both brain hemispheres via corpus callosum).[34][35] Since FOXG1 haploinsufficiency leads to agenesis of the corpus callosum in both humans and mice due to impaired upper-layer projection neuron development, these findings suggest that having two functional copies of the Foxg1 gene is essential for regulating the production of cortical neurons and the development of axons necessary for the formation of cortical circuits typical of FOXG1 disorders.[36][37]

Role of FOXG1 in neural plasticity

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According to one study, FOXG1 is expressed in both the region where neurogenesis takes place and differentiated neurons of the adult cerebral cortex, indicating its roles in cognitive skill and neural plasticity (neurogenesis is the process when new brain cells are formed).[38][39] By altering the expression levels of FOXG1 in primary cultured neurons influences the development of dendrites, with increased levels of FOXG1 leading to increased dendritic length and branching of neurites, partly by positive regulatory mechanisms of HES1 and CREB1 gene expression.[40]

In the adult hippocampus, a reduction in FOXG1 gene dosage results in a gradual decline in the quantity of dentate granule cells.[38] In one study, the total elimination of Foxg1 in mature neurons was achieved through the use of an inducible Camk2α-CreER along with floxed Foxg1 mice. This deletion of Foxg1 led to impairments in spatial learning and memory, evaluated through the Morris water maze, in addition to a notable decrease in performance on both the contextual and cued fear conditioning tests.[41]

Consequently, in FOXG1 syndrome, these mechanism (as mentioned above) are disrupted.[23]

Treatment

[edit]

This disease dosn't have a cure.[42] But some of the symptoms can be managed.[42] A multidisciplinary team is generally employed to treat the person's symptoms during their lifetime. The team might include specialist in: neurogenetics, genetic counseling, rehabilitation medicine, orthopedics, gastroenterology, physical therapy and ophthalmology.[43]

Seizures can be managed standartly by antiseizure medication (ASMs), common ASMs include clobazam, valproic acid, vigabatrin, felbamate, lamotrigine and steroids.[44] Although, there isn't universal treatment of the seizures in FOXG1 syndrome.[10]

Dyskinetic movement disorder can be managed through anti-dyskinetic medications (for example: pimozide, tetrabenazine, clonidine, etc), Although no single drug has been found to be effective for this disorder.[45]

Physical therapy is useful to make muscle tone better, it is also useful for strength improvement.[43][46]

Research

[edit]

In 2024, there was a study, where postnatal mouse was injected with AAV9-FOXG1 via ICV injection, and results showed improvement in corpus callosum agenesis, also it showed recovery of the dentate gyrus morphology, increased oligodendrocyte numbers with myelin restoration.[47]

Prognosis

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Information regarding the long-term course of FOXG1 syndrome is limited, and it is unclear whether lifespan is affected or not.[42] One of the oldest individuals with the disorder is 32 years old (at the time of article publication).[48]

History

[edit]

Thee first case of FOXG1 was identified by Shoichet et al in 7-year old female, who had de-novo translocation between chromosome 2 and chromosome 14, which affected FOXG1 gene.[36] Later, in 2008, Ariani et al. identified 2 female patients (First was 22 years and second one was 7 years old, at the time of article publication) with FOXG1 syndrome, although at the time of publication, it was named "Rett syndrome, congenital variant", because of similiraties between Rett syndrome and FOXG1 syndrome.[4] But in 2011, Kortüm F et al. designated the name "FOXG1 syndrome", because of the symptomatic differences between Rett syndrome and FOXG1 syndrome.[49]

See also

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References

[edit]
  1. ^ "FORKHEAD BOX G1; FOXG1". OMIM (Online Mendelian Inheritance In Man).
  2. ^ "FOXG1 syndrome". Orphanet.
  3. ^ Allou, Lila; Lambert, Laetitia; Amsallem, Daniel; Bieth, Eric; Edery, Patrick; Destrée, Anne; Rivier, François; Amor, David; Thompson, Elizabeth; Nicholl, Julian; Harbord, Michael; Nemos, Christophe; Saunier, Aline; Moustaïne, Aissa; Vigouroux, Adeline (December 2012). "14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements". European Journal of Human Genetics. 20 (12): 1216–1223. doi:10.1038/ejhg.2012.127. ISSN 1476-5438. PMC 3499785. PMID 22739344.
  4. ^ a b Ariani, Francesca; Hayek, Giuseppe; Rondinella, Dalila; Artuso, Rosangela; Mencarelli, Maria Antonietta; Spanhol-Rosseto, Ariele; Pollazzon, Marzia; Buoni, Sabrina; Spiga, Ottavia; Ricciardi, Sara; Meloni, Ilaria; Longo, Ilaria; Mari, Francesca; Broccoli, Vania; Zappella, Michele (2008-07-11). "FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome". The American Journal of Human Genetics. 83 (1): 89–93. doi:10.1016/j.ajhg.2008.05.015. ISSN 0002-9297. PMC 2443837. PMID 18571142.
  5. ^ Jang, Han Na; Kim, Taeho; Jung, Ah Young; Lee, Beom Hee; Yum, Mi-Sun; Ko, Tae-Sung (2021-11-24). "Identification of FOXG1 mutations in infantile hypotonia and postnatal microcephaly". Medicine. 100 (47): e27949. doi:10.1097/MD.0000000000027949. PMC 8615421. PMID 34964776.
  6. ^ a b "FOXG1 syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2025-04-02.
  7. ^ "What is FOXG1 syndrome?". FOXG1 Research Foundation. Retrieved 2025-04-03.
  8. ^ "Orphanet: Clinical signs and symptoms". www.orpha.net. Retrieved 2025-04-02.
  9. ^ a b Mitter, Diana; Pringsheim, Milka; Kaulisch, Marc; Plümacher, Kim Sarah; Schröder, Simone; Warthemann, Rita; Abou Jamra, Rami; Baethmann, Martina; Bast, Thomas; Büttel, Hans-Martin; Cohen, Julie S.; Conover, Elizabeth; Courage, Carolina; Eger, Angelika; Fatemi, Ali (January 2018). "FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants". Genetics in Medicine. 20 (1): 98–108. doi:10.1038/gim.2017.75. ISSN 1530-0366. PMID 28661489.
  10. ^ a b Brimble, Elise; Reyes, Kathryn G.; Kuhathaas, Kopika; Devinsky, Orrin; Ruzhnikov, Maura R. Z.; Ortiz-Gonzalez, Xilma R.; Scheffer, Ingrid; Bahi-Buisson, Nadia; Olson, Heather; the FOXG1 Research Foundation (2023-06-12). "Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry". Orphanet Journal of Rare Diseases. 18 (1): 149. doi:10.1186/s13023-023-02745-y. ISSN 1750-1172. PMC 10262363. PMID 37308910.{{cite journal}}: CS1 maint: numeric names: authors list (link)
  11. ^ "Expanding FOXG1 syndrome phenotype". www.elsevier.es. Retrieved 2025-04-02.
  12. ^ Craig, Connor P.; Calamaro, Emily; Fong, Chin-To; Iqbal, Anwar M.; Paciorkowski, Alexander R.; Zhang, Bin (2020-09-03). "Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review". Molecular Cytogenetics. 13 (1): 40. doi:10.1186/s13039-020-00506-1. ISSN 1755-8166. PMC 7905679. PMID 33632291.
  13. ^ Brockmann, Knut; Staudt, Martin (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "FOXG1 Syndrome", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 38843374, retrieved 2025-04-02
  14. ^ "Definition of de novo mutation". National Cancer Institute. 2011-02-02. Retrieved 2025-04-02.
  15. ^ Diebold, B.; Délepine, C.; Nectoux, J.; Bahi-Buisson, N.; Parent, P.; Bienvenu, T. (2014). "Somatic mosaicism for a mutation: diagnostic implication". Clinical Genetics. 85 (6): 589–591. doi:10.1111/cge.12212. ISSN 1399-0004. PMID 24766421.
  16. ^ Papandreou, Apostolos; Schneider, Ruth B.; Augustine, Erika F.; Ng, Joanne; Mankad, Kshitij; Meyer, Esther; McTague, Amy; Ngoh, Adeline; Hemingway, Cheryl; Robinson, Robert; Varadkar, Sophia M.; Kinali, Maria; Salpietro, Vincenzo; O'Driscoll, Margaret C.; Basheer, S. Nigel (2016-05-10). "Delineation of the movement disorders associated with FOXG1 mutations". Neurology. 86 (19): 1794–1800. doi:10.1212/WNL.0000000000002585. PMC 4862244. PMID 27029630.
  17. ^ Marín, Oscar (2009), "Cortical Development", in Binder, Marc D.; Hirokawa, Nobutaka; Windhorst, Uwe (eds.), Encyclopedia of Neuroscience, Berlin, Heidelberg: Springer, pp. 891–893, doi:10.1007/978-3-540-29678-2, ISBN 978-3-540-29678-2, retrieved 2025-04-27
  18. ^ Xuan, S.; Baptista, C. A.; Balas, G.; Tao, W.; Soares, V. C.; Lai, E. (June 1995). "Winged helix transcription factor BF-1 is essential for the development of the cerebral hemispheres". Neuron. 14 (6): 1141–1152. doi:10.1016/0896-6273(95)90262-7. ISSN 0896-6273.
  19. ^ Martynoga, Ben; Morrison, Harris; Price, David J.; Mason, John O. (2005-07-01). "Foxg1 is required for specification of ventral telencephalon and region-specific regulation of dorsal telencephalic precursor proliferation and apoptosis". Developmental Biology. 283 (1): 113–127. doi:10.1016/j.ydbio.2005.04.005. ISSN 0012-1606. PMID 15893304.
  20. ^ Hanashima, Carina; Shen, Lijian; Li, Suzanne C.; Lai, Eseng (2002-08-01). "Brain Factor-1 Controls the Proliferation and Differentiation of Neocortical Progenitor Cells through Independent Mechanisms". Journal of Neuroscience. 22 (15): 6526–6536. doi:10.1523/JNEUROSCI.22-15-06526.2002. ISSN 0270-6474. PMC 6758167. PMID 12151532.
  21. ^ Seoane, Joan; Le, Hong-Van; Shen, Lijian; Anderson, Stewart A.; Massagué, Joan (2004-04-16). "Integration of Smad and Forkhead Pathways in the Control of Neuroepithelial and Glioblastoma Cell Proliferation". Cell. 117 (2): 211–223. doi:10.1016/S0092-8674(04)00298-3. ISSN 0092-8674. PMID 15084259.
  22. ^ Chan, D. W.; Liu, V. W. S.; To, R. M. Y.; Chiu, P. M.; Lee, W. Y. W.; Yao, K. M.; Cheung, A. N. Y.; Ngan, H. Y. S. (2009-09-15). "Overexpression of FOXG1 contributes to TGF-β resistance through inhibition of p21WAF1/CIP1 expression in ovarian cancer". British Journal of Cancer. 101 (8): 1433–1443. doi:10.1038/sj.bjc.6605316. ISSN 1532-1827. PMC 2768441.
  23. ^ a b c Hou, Pei-Shan; hAilín, Darren Ó; Vogel, Tanja; Hanashima, Carina (2020-02-25). "Transcription and Beyond: Delineating FOXG1 Function in Cortical Development and Disorders". Frontiers in Cellular Neuroscience. 14: 35. doi:10.3389/fncel.2020.00035. ISSN 1662-5102. PMC 7052011. PMID 32158381. This article incorporates text from this source, which is available under the CC BY 4.0 license.
  24. ^ Ratnaparkhi, Girish S.; Courey, Albert J. (2015-01-01), Moody, Sally A. (ed.), "Chapter 8 - Signaling Cascades, Gradients, and Gene Networks in Dorsal/Ventral Patterning", Principles of Developmental Genetics (Second Edition), Oxford: Academic Press, pp. 131–151, ISBN 978-0-12-405945-0, retrieved 2025-04-27
  25. ^ Sharpe, Paul T. (1995-01-01). "Homeobox Genes and Orofacial Development". Connective Tissue Research. 32 (1–4): 17–25. doi:10.3109/03008209509013701. ISSN 0300-8207. PMID 7554914.
  26. ^ Suda, Yoko; Matsuo, Isao; Aizawa, Shinichi (1997-12-01). "Cooperation between Otx1 and Otx2 genes in developmental patterning of rostral brain". Mechanisms of Development. 69 (1): 125–141. doi:10.1016/S0925-4773(97)00161-5. ISSN 0925-4773. PMID 9486536.
  27. ^ Lagutin, Oleg V.; Zhu, Changqi C.; Kobayashi, Daisuke; Topczewski, Jacek; Shimamura, Kenji; Puelles, Luis; Russell, Helen R. C.; McKinnon, Peter J.; Solnica-Krezel, Lilianna; Oliver, Guillermo (2003-02-01). "Six3 repression of Wnt signaling in the anterior neuroectoderm is essential for vertebrate forebrain development". Genes & Development. 17 (3): 368–379. doi:10.1101/gad.1059403. ISSN 0890-9369. PMC 195989. PMID 12569128.
  28. ^ a b Hanashima, Carina; Li, Suzanne C.; Shen, Lijian; Lai, Eseng; Fishell, Gord (2004-01-02). "Foxg1 Suppresses Early Cortical Cell Fate". Science. 303 (5654): 56–59. Bibcode:2004Sci...303...56H. doi:10.1126/science.1090674. PMID 14704420.
  29. ^ Toma, Kenichi; Kumamoto, Takuma; Hanashima, Carina (2014-09-24). "The Timing of Upper-Layer Neurogenesis Is Conferred by Sequential Derepression and Negative Feedback from Deep-Layer Neurons". Journal of Neuroscience. 34 (39): 13259–13276. doi:10.1523/JNEUROSCI.2334-14.2014. ISSN 0270-6474. PMC 6608336. PMID 25253869.
  30. ^ Hou, Pei-Shan; Miyoshi, Goichi; Hanashima, Carina (2019-08-08). "Sensory cortex wiring requires preselection of short- and long-range projection neurons through an Egr-Foxg1-COUP-TFI network". Nature Communications. 10 (1): 3581. Bibcode:2019NatCo..10.3581H. doi:10.1038/s41467-019-11043-w. ISSN 2041-1723. PMC 6687716. PMID 31395862.
  31. ^ Wang, Siying; Lin, Shichao; Yang, Chaoyong (2024-06-01). "The dawn of spatiotemporal transcriptomics". Biomedical Analysis. 1 (2): 154–161. doi:10.1016/j.bioana.2024.06.002. ISSN 2950-435X.
  32. ^ Kumamoto, Takuma; Toma, Ken-ichi; Gunadi; McKenna, William L.; Kasukawa, Takeya; Katzman, Sol; Chen, Bin; Hanashima, Carina (2013-03-28). "Foxg1 Coordinates the Switch from Nonradially to Radially Migrating Glutamatergic Subtypes in the Neocortex through Spatiotemporal Repression". Cell Reports. 3 (3): 931–945. doi:10.1016/j.celrep.2013.02.023. ISSN 2211-1247. PMC 3648982. PMID 23523356.
  33. ^ Hanashima, Carina; Fernandes, Marie; Hebert, Jean M.; Fishell, Gord (2007-10-10). "The Role of Foxg1 and Dorsal Midline Signaling in the Generation of Cajal-Retzius Subtypes". Journal of Neuroscience. 27 (41): 11103–11111. doi:10.1523/JNEUROSCI.1066-07.2007. ISSN 0270-6474. PMC 6672859. PMID 17928452.
  34. ^ Hou, Pei-Shan; Miyoshi, Goichi; Hanashima, Carina (2019-08-08). "Sensory cortex wiring requires preselection of short- and long-range projection neurons through an Egr-Foxg1-COUP-TFI network". Nature Communications. 10 (1): 3581. Bibcode:2019NatCo..10.3581H. doi:10.1038/s41467-019-11043-w. ISSN 2041-1723. PMC 6687716. PMID 31395862.
  35. ^ Fame, Ryann M.; MacDonald, Jessica L.; Macklis, Jeffrey D. (2011-01-01). "Development, specification, and diversity of callosal projection neurons". Trends in Neurosciences. 34 (1): 41–50. doi:10.1016/j.tins.2010.10.002. ISSN 0166-2236. PMC 3053014. PMID 21129791.
  36. ^ a b Shoichet, Sarah A.; Kunde, Stella-Amrei; Viertel, Petra; Schell-Apacik, Can; von Voss, Hubertus; Tommerup, Niels; Ropers, Hans-Hilger; Kalscheuer, Vera M. (2005-10-01). "Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly". Human Genetics. 117 (6): 536–544. doi:10.1007/s00439-005-1310-3. ISSN 1432-1203. PMID 16133170.
  37. ^ Cargnin, Francesca; Kwon, Ji-Sun; Katzman, Sol; Chen, Bin; Lee, Jae W.; Lee, Soo-Kyung (2018-12-05). "FOXG1 Orchestrates Neocortical Organization and Cortico-Cortical Connections". Neuron. 100 (5): 1083–1096.e5. doi:10.1016/j.neuron.2018.10.016. ISSN 0896-6273. PMC 6428593. PMID 30392794.
  38. ^ a b Shen, Lijian; Nam, Hyung-Song; Song, Ping; Moore, Holly; Anderson, Stewart A. (2006). "FoxG1 haploinsufficiency results in impaired neurogenesis in the postnatal hippocampus and contextual memory deficits". Hippocampus. 16 (10): 875–890. doi:10.1002/hipo.20218. ISSN 1098-1063. PMID 16941454.
  39. ^ "What is neurogenesis?". qbi.uq.edu.au. 2016-11-22. Retrieved 2025-05-02.
  40. ^ Chiola, Simone; Do, Mihn Duc; Centrone, Lucy; Mallamaci, Antonello (2019-03-01). "Foxg1 Overexpression in Neocortical Pyramids Stimulates Dendrite Elongation Via Hes1 and pCreb1 Upregulation". Cerebral Cortex. 29 (3): 1006–1019. doi:10.1093/cercor/bhy007. ISSN 1047-3211. PMID 29385539.
  41. ^ Yu, Baocong; Liu, Junhua; Su, Mingzhao; Wang, Chunlian; Chen, Huanxin; Zhao, Chunjie (2019-06-28). "Disruption of Foxg1 impairs neural plasticity leading to social and cognitive behavioral defects". Molecular Brain. 12 (1): 63. doi:10.1186/s13041-019-0484-x. ISSN 1756-6606. PMC 6599246. PMID 31253171.
  42. ^ a b c Brockmann, Knut; Staudt, Martin (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "FOXG1 Syndrome", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 38843374, retrieved 2025-04-03
  43. ^ a b Philadelphia, The Children's Hospital of. "FOXG1 syndrome | Children's Hospital of Philadelphia". www.chop.edu. Retrieved 2025-04-03.
  44. ^ "UpToDate". www.uptodate.com. Retrieved 2025-04-03.
  45. ^ Cellini, Elena; Vignoli, Aglaia; Pisano, Tiziana; Falchi, Melania; Molinaro, Anna; Accorsi, Patrizia; Bontacchio, Alessia; Pinelli, Lorenzo; Giordano, Lucio; Guerrini, Renzo; On Behalf of the FOXG1 Syndrome Study Group (2016). "The hyperkinetic movement disorder of 1-related epileptic–dyskinetic encephalopathy". Developmental Medicine & Child Neurology. 58 (1): 93–97. doi:10.1111/dmcn.12894. hdl:2434/334153. ISSN 1469-8749. PMID 26344814 – via Wiley Online Library.{{cite journal}}: CS1 maint: numeric names: authors list (link)
  46. ^ "Physical Therapy (Physiotherapy)". Cleveland clinic.
  47. ^ Jeon, Shin; Park, Jaein; Likhite, Shibi; Moon, Ji Hwan; Shin, Dongjun; Li, Liwen; Meyer, Kathrin C.; Lee, Jae W.; Lee, Soo-Kyung (2024-09-12). "The postnatal injection of AAV9-FOXG1 rescues corpus callosum agenesis and other brain deficits in the mouse model of FOXG1 syndrome". Molecular Therapy - Methods & Clinical Development. 32 (3): 101275. doi:10.1016/j.omtm.2024.101275. ISSN 2329-0501. PMC 11253142. PMID 39022742.
  48. ^ Mitter, Diana; Pringsheim, Milka; Kaulisch, Marc; Plümacher, Kim Sarah; Schröder, Simone; Warthemann, Rita; Jamra, Rami Abou; Baethmann, Martina; Bast, Thomas; Büttel, Hans-Martin; Cohen, Julie S.; Conover, Elizabeth; Courage, Carolina; Eger, Angelika; Fatemi, Ali (2018-01-01). "FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants". Genetics in Medicine. 20 (1): 98–108. doi:10.1038/gim.2017.75. ISSN 1098-3600. PMID 28661489.
  49. ^ Kortüm, Fanny; Das, Soma; Flindt, Max; Morris-Rosendahl, Deborah J.; Stefanova, Irina; Goldstein, Amy; Horn, Denise; Klopocki, Eva; Kluger, Gerhard; Martin, Peter; Rauch, Anita; Roumer, Agathe; Saitta, Sulagna; Walsh, Laurence E.; Wieczorek, Dagmar (2011-06-01). "The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis". Journal of Medical Genetics. 48 (6): 396–406. doi:10.1136/jmg.2010.087528. ISSN 0022-2593. PMC 5522617. PMID 21441262.
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