Article
Biallelic FOXRED1 mutations cause infantile mitochondrial encephalopathy with complex I disassembly and basal ganglia degeneration.
Mitochondrion - 1 Mar 2026
Pan Cunhui, Zhu Ruowei, Huang Xi, Duan Haolin, Wu Tenghui, Wang Xiaole, Ding Ying, Chen Chen, He Fang, Peng Jing, Yin Fei, Lou Xiaoting, Yang Li
Abstract excerpt
Developmental and epileptic encephalopathy (DEE) is a severe neurological disorder. Biallelic mutations in the nuclear-encoded mitochondrial chaperone gene FOXRED1, a specific assembly factor for complex I, cause mitochondrial dysfunction; however, their role in DEE pathogenesis remains unexplored. Clinical data and peripheral blood mononuclear cells (PBMCs) were obtained from two patients with compound...
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