Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders.

doi:10.1016/j.ajhg.2024.11.010

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Article

Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders.

American journal of human genetics - 2 Jan 2025

Luo Sheng, Wang Peng-Yu, Zhou Peng, Zhang Wen-Jun, Gu Yu-Jie, Liang Xiao-Yu, Zhang Jing-Wen, Luo Jun-Xia, Zhang Hong-Wei, Lan Song, Zhang Ting-Ting, Yang Jie-Hua, Sun Su-Zhen, Guo Xiang-Yang, Wang Ju-Li, Deng Lin-Fan, Xu Ze-Hai, Jin Liang, He Yun-Yan, Ye Zi-Long, Gu Wei-Yue, Li Bing-Mei, Shi Yi-Wu, Liu Xiao-Rong, Yan Hong-Jun, Yi Yong-Hong, Jiang Yu-Wu, Mao Xiao, Li Wen-Ling, Meng Heng, Liao Wei-Ping

Abstract excerpt

EP400 encodes a core catalytic ATPase subunit of ATP-dependent chromatin remodeling complexes. The gene-disease association of EP400 is undetermined. In this study, we performed trio-based whole-exome sequencing in a cohort of 402 families with epilepsy and neurodevelopmental disorders (NDDs) and identified compound heterozygous EP400 variants in six unrelated individuals. Six additional EP400 individuals were...

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Identifiers

PMID: 39708813
DOI: 10.1016/j.ajhg.2024.11.010
PMCID: PMC11739926

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EP400

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