MDN1 variants cause susceptibility to epilepsy : For the China Epilepsy Gene 1.0 Project.

ABSTRACT:

Background

The Midasin AAA (ATPase associated with various activities) ATPase 1 (MDN1) gene, a member of the AAA protein family, plays a crucial role in ribosome maturation. MDN1 is expressed in the human brain throughout life, especially during early development and adulthood. However, MDN1 variants have not been previously reported in patients with epilepsy. This study aims to explore the association between MDN1 variants and epilepsy.

Methods

Trios-based whole-exome sequencing was performed in a cohort of patients with epilepsy susceptibility from the China Epilepsy Gene 1.0 Project. The excess, damaging effects, and molecular subregional implications of variants, as well as the spatio-temporal expression of MDN1, were analyzed to validate the gene-disease association.

SUBMITTER: Wen Q 

PROVIDER: S-EPMC11960335 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature