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Article

MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.

Seizure - 1 Mar 2024

Yang Jie-Hua, Liu Zhi-Gang, Liu Chun-Ling, Zhang Ming-Rui, Jia Yan-Lu, Zhai Qiong-Xiang, He Ming-Feng, He Na, Qiao Jing-Da

Abstract excerpt

OBJECTIVES: The MED12 gene encodes mediator complex subunit 12, which is a component of the mediator complex involved in the transcriptional regulation of nearly all RNA polymerase II-dependent genes. MED12 variants have previously been associated with developmental disorders with or without nonspecific intellectual disability. This study aims to explore the association between MED12 variants and epilepsy....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36894399
DOI: 10.1016/j.seizure.2023.02.018

Provenance

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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