Epigenetic genes and epilepsy—emerging mechanisms and clinical applications

KMJ Van Loo, GL Carvill, AJ Becker… - Nature Reviews …, 2022 - nature.com
An increasing number of epilepsies are being attributed to variants in genes with epigenetic
functions. The products of these genes include factors that regulate the structure and …

Sleep disorders in Rett syndrome and Rett-related disorders: a narrative review

G Tascini, GB Dell'Isola, E Mencaroni… - Frontiers in …, 2022 - frontiersin.org
Rett Syndrome (RTT) is a rare and severe X-linked developmental brain disorder that occurs
primarily in females, with a ratio of 1: 10.000. De novo mutations in the Methyl-CpG Binding …

FoxG1 regulates the formation of cortical GABAergic circuit during an early postnatal critical period resulting in autism spectrum disorder-like phenotypes

G Miyoshi, Y Ueta, A Natsubori, K Hiraga… - Nature …, 2021 - nature.com
Abnormalities in GABAergic inhibitory circuits have been implicated in the aetiology of
autism spectrum disorder (ASD). ASD is caused by genetic and environmental factors …

Zika virus induces FOXG1 nuclear displacement and downregulation in human neural progenitors

G Lottini, M Baggiani, G Chesi, B D'Orsi, P Quaranta… - Stem Cell Reports, 2022 - cell.com
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 …

MECP2 and the biology of MECP2 duplication syndrome

SR D'Mello III - Journal of Neurochemistry, 2021 - Wiley Online Library
Abstract MECP2 duplication syndrome (MDS), a rare X‐linked genomic disorder affecting
predominantly males, is caused by duplication of the chromosomal region containing the …

Identification of a de novo mutation of the FOXG1 gene and comprehensive analysis for molecular factors in Chinese FOXG1-related encephalopathies

G Lu, Y Zhang, H Xia, X He, P Xu, L Wu, D Li… - Frontiers in Molecular …, 2022 - frontiersin.org
Background FOXG1-related encephalopathy, also known as FOXG1 syndrome or FOXG1-
related disorder, affects most aspects of development and causes microcephaly and brain …

The clinical and sleep manifestations in children with FOXG1 syndrome

LC Wong, CH Huang, WY Chou, CJ Hsu… - Autism …, 2023 - Wiley Online Library
FOXG1 syndrome is a rare neurodevelopmental disorder associated with severe cognitive
dysfunction, autistic behavior, and early‐onset hyperkinetic movement disorders. Patients …

Interneuron odyssey: molecular mechanisms of tangential migration

I Toudji, A Toumi, É Chamberland… - Frontiers in Neural …, 2023 - frontiersin.org
Cortical GABAergic interneurons are critical components of neural networks. They provide
local and long-range inhibition and help coordinate network activities involved in various …

Transcription factors in neurodevelopmental and associated psychiatric disorders: A potential convergence for genetic and environmental risk factors

J Santos‐Terra, I Deckmann… - International Journal …, 2021 - Wiley Online Library
Neurodevelopmental disorders (NDDs) are a heterogeneous and highly prevalent group of
psychiatric conditions marked by impairments in the nervous system. Their onset occurs …

Differential vulnerability of adult neurogenic niches to dosage of the neurodevelopmental-disorder linked gene Foxg1

I Schäffner, MT Wittmann, T Vogel, DC Lie - Molecular Psychiatry, 2023 - nature.com
The transcription factor FOXG1 serves pleiotropic functions in brain development ranging
from the regulation of precursor proliferation to the control of cortical circuit formation. Loss …