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 …

Epigenetics and neuroinflammation associated with neurodevelopmental disorders: A microglial perspective

M Komada, Y Nishimura - Frontiers in Cell and Developmental …, 2022 - frontiersin.org
Neuroinflammation is a cause of neurodevelopmental disorders such as autism spectrum
disorders, fetal alcohol syndrome, and cerebral palsy. Converging lines of evidence from …

Changes in the cerebrospinal fluid and plasma lipidome in patients with Rett syndrome

M Zandl-Lang, T Züllig, M Trötzmüller, Y Naegelin… - Metabolites, 2022 - mdpi.com
Rett syndrome (RTT) is defined as a rare disease caused by mutations of the methyl-CpG
binding protein 2 (MECP2). It is one of the most common causes of genetic mental …

Autism spectrum disorder: Pathogenesis, biomarker, and intervention therapy

H Zhuang, Z Liang, G Ma, A Qureshi, X Ran… - MedComm, 2024 - Wiley Online Library
Autism spectrum disorder (ASD) has become a common neurodevelopmental disorder. The
heterogeneity of ASD poses great challenges for its research and clinical translation. On the …

Maternal diabetes deregulates the expression of Mecp2 via miR-26b-5p in mouse embryonic neural stem cells

S Shyamasundar, S Ramya, D Kandilya, DK Srinivasan… - Cells, 2023 - mdpi.com
Maternal diabetes has been associated with a greater risk of neurodevelopmental disorders
in offspring. It has been established that hyperglycemia alters the expression of genes and …

Unveiling Molecular Dynamics of MeCp2, CDKL5 and BDNF in the Hippocampus of Individuals With Intractable Mesial Temporal Lobe Epilepsy

NM Meshkinkhood, P Barati Dowom… - Journal of Cellular …, 2025 - Wiley Online Library
Mutations occurring in the MeCp2, CDKL5 and BDNF genes have been linked to
epileptogenesis in various epilepsy syndromes. This study employed bioinformatics analysis …

Exploring the Missing link between vitamin D and autism spectrum disorder: Scientific evidence and new perspectives

T Gao, W Dang, Z Jiang, Y Jiang - Heliyon, 2024 - cell.com
Aim This study aims to address the key question of the causal relationship between serum
levels of 25-hydroxyvitamin D (vitamin D) and autism spectrum disorders (ASD). Methods …

[HTML][HTML] Vitamin D modulates cortical transcriptome and behavioral phenotypes in an Mecp2 heterozygous Rett syndrome mouse model

MC Ribeiro, JL MacDonald - Neurobiology of disease, 2022 - Elsevier
Rett syndrome (RTT) is an X-linked neurological disorder caused by mutations in the
transcriptional regulator MECP2. Mecp2 loss-of-function leads to the disruption of many …

Svilluppo di un nuovo sistema di drug screening cellulare e molecolare per il trattamento della sindrome di Rett

I Sormonta - 2023 - iris.unisr.it
Rett syndrome (RTT) is a devastating neurodevelopmental disorder caused by mutations in
the X-linked MECP2 gene, primarily acting as transcriptional repressor. Although RTT …