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Article

Association of LONP1 gene with epilepsy and the sub-regional effect.

Scientific reports - 26 Oct 2024

Li Si-Xiu, He Na, Liao Jian-Xiang, Lu Xin-Guo, Hu Wen-Guang, Liu Xiao-Rong, Liao Wei-Ping, Song Xing-Wang, Li Bin

Abstract excerpt

The LONP1 gene encodes Lon protease, which is responsible for degrading damaged or misfolded proteins and binding mitochondrial DNA. Previously, LONP1 variants have been identified in patients with cerebral, ocular, dental, auricular, and skeletal anomalies (CODAS syndrome) and mitochondrial diseases. Seizures were occasionally observed. However, the association between LONP1 and epilepsy remains elusive. In this...

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Identifiers

PMID: 39462050
DOI: 10.1038/s41598-024-77039-9
PMCID: PMC11513111

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