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Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
Epileptic encephalopathies associated with chorea:28GNAO1 mutations.SCN1A-related phenotypic.FOXG1 mutations.SCN8A mutations.SCN2A-related disorders.UBA5 mutations.DNM1 mutations.FRRS1L mutations.GRIN1/GRIN2B/GRIN2D mutations.
Central nervous system: Paediatric and neurodevelopmental disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Other neurodegenerative disorders must be carefully excluded before the diagnosis is made, especially if the diagnosis has not been confirmed through finding a pathogenic MECP2 mutation. Rett syndrome may be confused clinically with Angelman syndrome, especially if the early history is not available, and some other Rett-like and Angelman-like disorders may also have overlapping clinical features. CDKL5-related disease causes a developmental disturbance with microcephaly, autistic behaviours and (often) a severe epileptic disorder. The epilepsy typically has onset within the first 6 months, may cause infantile spasms and, in the long term, is often resistant to treatment. Mutations in FOXG1, or deletions of chromosome 9 including or adjacent to the gene and recognised on aCGH, cause ‘congenital-onset Rett syndrome’. This misnomer (it really is a contradiction in terms, as the early development of girls with Rett syndrome must, by definition, at least appear to have been normal) has many similarities to Rett syndrome except that there is no period of normal early development and it affects boys and girls equally.
FOXG1 mediates the radiosensitivity of glioma cells through regulation of autophagy
Published in International Journal of Radiation Biology, 2021
Ning Xiao, Churong Li, Wenjun Liao, Jun Yin, Shichuan Zhang, Peng Zhang, Lan Yuan, Min Hong
Forkhead box G1 (FOXG1), also known as brain factor 1 is an important member of the forkhead box transcription factor family, which is involved in multiple developmental processes, including cell signal transduction, proliferation, differentiation, cell cycle regulation and apoptosis (Golson and Kaestner 2016). FOXG1 is upregulated in numerous types of malignant tumors, including glioma, and the expression levels have been positively associated with the progression of glioma (Schäfer et al. 2018). Tumors with low FoxG1 expression had significantly better survival rates. Sarah Schäfer et al. (2018) reported a significant decrease of FoxG1 in gliomas with IDH mutations or ATRX nuclear loss, which was associated with improved overall survival. These data indicate the role of FoxG1 in glioma growth. However, to the best of our knowledge, the mechanisms by which FOXG1 regulates glioma growth are still lacking, especially in relation to glioma radiosensitivity.