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Article

Epilepsy and Coenzyme Q10 deficiency with COQ4 variants.

Epilepsy & behavior : E&B - 1 Dec 2023

Hsu Chia-Jui, Lee Wang-Tso

Abstract excerpt

Coenzyme Q10 (CoQ10) is one of the essential substances for mitochondrial energy synthesis and extra-mitochondrial vital function. Primary CoQ10 deficiency is a rare disease resulting from interruption of CoQ10 biosynthetic pathway and biallelic COQ4 variants are one of the genetic etiologies recognized in this hereditary disorder. The clinical heterogenicity is broad with wide onset age from prenatal period to...

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Identifiers

PMID: 37948995
DOI: 10.1016/j.yebeh.2023.109498

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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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