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Article

De novo SRCAP variants cause developmental and epileptic encephalopathy and the phenotypic spectrum.

Epilepsia - 1 Feb 2026

Liang Xiao-Yu, Meng Xiang-Hong, Wu Wu-Chen, Guo Jing, Luo Sheng, Wang Peng-Yu, Zhang Dong-Ming, Lin Zi-Sheng, Liang Jin-Jie, He Su-Li, Li Bing-Mei, Wang Jie, Yi Yong-Hong, He Na, Liao Wei-Ping

Abstract excerpt

OBJECTIVE: The SRCAP gene encodes a core catalytic subunit of adenosine triphosphate-dependent chromatin remodeling complexes that play an essential role in chromatin regulation and neurodevelopment. Our recent study showed that the EP400 gene, the paralog of SRCAP, is associated with neurodevelopmental disorders and epilepsy. This study aims to explore the relationship between SRCAP and developmental and...

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Source

Identifiers

PMID: 41144712
DOI: 10.1111/epi.18695

Genes

SRCAP
EP400
MAF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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