Exploratory analysis of a Novel RACK1 mutation and its potential role in epileptic seizures via Microglia activation

Exploratory analysis of a Novel RACK1 mutation and its potential role in epileptic seizures via Microglia activation

Abstract Seizures is a prevalent neurological disorder with a largely elusive pathogenesis. In this study, we identified the key gene RACK1 and its novel mutation RACK1-p.L206P as being associated with seizures through single-cell transcriptome sequencing (scRNA-seq) and whole exome sequencing (WES)...

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Bibliographic Details
Main Authors: Sai Zhang, Zhaofei Dong, Jing Guo, Ze Li, Hong Wu, Linming Zhang, Fuli Min, Tao Zeng
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Journal of Neuroinflammation
Subjects:
Seizures
RACK1
Microglia
CRISPR/Cas9
Neuron
Whole exome sequencing
Online Access:https://doi.org/10.1186/s12974-025-03350-5
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