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Article

CELSR1 variants are associated with partial epilepsy of childhood.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Oct 2022

Chen Zheng, Luo Sheng, Liu Zhi-Gang, Deng Yan-Chun, He Su-Li, Liu Xiao-Rong, Yi Yong-Hong, Wang Jie, Gao Liang-Di, Li Bing-Mei, Wu Zhi-Jun, Ye Zi-Long, Liang De-Hai, Bian Wen-Jun, Liao Wei-Ping

Abstract excerpt

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...

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PMID: 36453712
DOI: 10.1002/ajmg.b.32916

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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