Compound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures

Compound heterozygosity of a De novo 16q24.1 deletion and missense mutation in COX4I1 leads to developmental regression, intellectual disability, and seizures

Abstract The COX4I1 is responsible for encoding a crucial component of cytochrome c oxidase, integral to electron transport in the mitochondrial respiratory chain. Mutations in COX4I1 can result in a rare autosomal recessive disorder characterized by growth retardation, slow weight gain, microcephal...

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Main Authors: Zhen Liu, Mei He, Xuan Luo, Hu Pan, Xiao Mao, Jinping Su
Format: Article
Language:English
Published: Wiley 2025-06-01
Series:Epilepsia Open
Subjects:
COX4I1
cytochrome c oxidase
developmental regression
epilepsy
intellectual disability
progressive cerebral atrophy
Online Access:https://doi.org/10.1002/epi4.13117
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https://doi.org/10.1002/epi4.13117

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