{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["112(1)"],"submitter":["Luo S"],"pubmed_abstract":["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 recruited via the match platform of China, including two de novo heterozygous and four compound heterozygous variants. The individual with a heterozygous de novo frameshift variant presented with NDDs, while the others exhibited epilepsy and NDDs, explained by the damaged genetic dependence quantity. EP400 presented significantly higher excesses of variants in the individuals. Cluste"],"journal":["American journal of human genetics"],"pagination":["87-105"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11739926"],"repository":["biostudies-literature"],"pubmed_title":["Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders."],"pmcid":["PMC11739926"],"pubmed_authors":["Jiang YW","Liu XR","Zhang WJ","Yang JH","Zhang JW","Zhang HW","Mao X","Luo JX","Xu ZH","Sun SZ","Wang JL","Liao WP","Jin L","Zhang TT","Zhou P","He YY","Shi YW","Wang PY","Li WL","Yi YH","Gu WY","Guo XY","Liang XY","Lan S","Li BM","Ye ZL","Yan HJ","Luo S","Gu YJ","Deng LF","Meng H"],"additional_accession":[]},"is_claimable":false,"name":"Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders.","description":"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 recruited via the match platform of China, including two de novo heterozygous and four compound heterozygous variants. The individual with a heterozygous de novo frameshift variant presented with NDDs, while the others exhibited epilepsy and NDDs, explained by the damaged genetic dependence quantity. EP400 presented significantly higher excesses of variants in the individuals. Cluste","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jan","modification":"2026-06-01T11:35:32.545Z","creation":"2026-04-08T11:53:40.035Z"},"accession":"S-EPMC11739926","cross_references":{"pubmed":["39708813"],"doi":["10.1016/j.ajhg.2024.11.010"]}}