Eur J Med Genet 2021 Jul 17;64(9):104282. Epub 2021 Jul 17.
Institut Imagine-Inserm UMR-1163, Genetics and Development of the Cerebral Cortex, 75015, Paris, France; Paris Descartes - Sorbonne Paris Cite University, 75006, Paris, France; Hôpital Necker-Enfants Malades, Pediatric Neurology, 75015, Paris, France. Electronic address:
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 syndrome characterized by severe intellectual disability, motor delay, dyskinetic movements and epilepsy. Neuroimaging studies in patients disclose constant features including microcephaly, corpus callosum dysgenesis and delayed myelination. Read More