Article
Reprint of: Recessive APC2 missense variants associated with epilepsies without neurodevelopmental disorders.
Seizure - 1 Mar 2024
Jin Liang, Li Yun, Luo Sheng, Peng Qian, Zhai Qiong-Xiang, Zhai Jin-Xia, Gao Liang-Di, Guo Jia-Jun, Song Wang, Yi Yong-Hong, He Na, Chen Yong-Jun
Abstract excerpt
OBJECTIVES: The APC2 gene, encoding adenomatous polyposis coli protein-2, is involved in cytoskeletal regulation in neurons responding to endogenous extracellular signals and plays an important role in brain development. Previously, the APC2 variants have been reported to be associated with cortical dysplasia and intellectual disability. This study aims to explore the association between APC2 variants and...
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