Zheng Chen, Sheng Luo, Zhi-Gang Liu, Yan-Chun Deng, Su-Li He, Xiao-Rong Liu, Yong-Hong Yi, Jie Wang, Liang-Di Gao, Bing-Mei Li, Zhi-Jun Wu, Zi-Long Ye, De-Hai Liang, Wen-Jun Bian, Wei-Ping Liao
CELSR1 gene, encoding cadherin EGF LAG seven-pass G-type receptor 1, is mainly expressed in neural stem cells during the embryonic period. It plays an important role in neurodevelopment. However, the relationship between CELSR1 and disease of the central nervous system has not been defined. In this study, we performed trios-based whole-exome sequencing in a cohort of 356 unrelated cases with partial epilepsy without acquired causes and identified CELSR1 variants in six unrelated cases. The variants included one de novo heterozygous nonsense variant, one de novo heterozygous missense variant, and four compound heterozygous missense variants that had one variant was located in the extracellular region and the other in the cytoplasm...
October 2022: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics