Mitochondrial disease and epilepsy in children

Mitochondria is the cell’s powerhouse. Mitochondrial disease refers to a group of clinically heterogeneous disorders caused by dysfunction in the mitochondrial respiratory chain, often due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) that encodes mitochondrial proteins. This dysfu...

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Main Authors: Xuan Zhang, Bo Zhang, Zhiming Tao, Jianmin Liang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Neurology
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2024.1499876/full
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author Xuan Zhang
Xuan Zhang
Xuan Zhang
Bo Zhang
Bo Zhang
Bo Zhang
Zhiming Tao
Zhiming Tao
Zhiming Tao
Jianmin Liang
Jianmin Liang
Jianmin Liang
author_facet Xuan Zhang
Xuan Zhang
Xuan Zhang
Bo Zhang
Bo Zhang
Bo Zhang
Zhiming Tao
Zhiming Tao
Zhiming Tao
Jianmin Liang
Jianmin Liang
Jianmin Liang
author_sort Xuan Zhang
collection DOAJ
description Mitochondria is the cell’s powerhouse. Mitochondrial disease refers to a group of clinically heterogeneous disorders caused by dysfunction in the mitochondrial respiratory chain, often due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) that encodes mitochondrial proteins. This dysfunction can lead to a variety of clinical phenotypes, particularly affecting organs with high energy demands, such as the brain and muscles. Epilepsy is a prevalent neurological disorder in children and is also a frequent manifestation of mitochondrial disease. The exact mechanisms underlying epilepsy in mitochondrial disease remain unclear and are thought to involve multiple contributing factors. This review explores common mitochondrial diseases associated with epilepsy, focusing on their prevalence, seizure types, EEG features, therapeutic strategies, and outcomes. It also summarizes the relationship between the molecular genetics of mitochondrial respiratory chain components and the development of epilepsy.
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series Frontiers in Neurology
spelling doaj-art-6dd663667d9f46b686270340753ec7462025-01-09T05:10:16ZengFrontiers Media S.A.Frontiers in Neurology1664-22952025-01-011510.3389/fneur.2024.14998761499876Mitochondrial disease and epilepsy in childrenXuan Zhang0Xuan Zhang1Xuan Zhang2Bo Zhang3Bo Zhang4Bo Zhang5Zhiming Tao6Zhiming Tao7Zhiming Tao8Jianmin Liang9Jianmin Liang10Jianmin Liang11Department of Pediatric Neurology, Children's Medical Center, First Hospital of Jilin University, Changchun, ChinaJilin Provincial Key Laboratory of Pediatric Neurology, Changchun, ChinaNeuromedical Center, First Hospital of Jilin University, Changchun, ChinaDepartment of Pediatric Neurology, Children's Medical Center, First Hospital of Jilin University, Changchun, ChinaJilin Provincial Key Laboratory of Pediatric Neurology, Changchun, ChinaNeuromedical Center, First Hospital of Jilin University, Changchun, ChinaDepartment of Pediatric Neurology, Children's Medical Center, First Hospital of Jilin University, Changchun, ChinaJilin Provincial Key Laboratory of Pediatric Neurology, Changchun, ChinaNeuromedical Center, First Hospital of Jilin University, Changchun, ChinaDepartment of Pediatric Neurology, Children's Medical Center, First Hospital of Jilin University, Changchun, ChinaJilin Provincial Key Laboratory of Pediatric Neurology, Changchun, ChinaNeuromedical Center, First Hospital of Jilin University, Changchun, ChinaMitochondria is the cell’s powerhouse. Mitochondrial disease refers to a group of clinically heterogeneous disorders caused by dysfunction in the mitochondrial respiratory chain, often due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) that encodes mitochondrial proteins. This dysfunction can lead to a variety of clinical phenotypes, particularly affecting organs with high energy demands, such as the brain and muscles. Epilepsy is a prevalent neurological disorder in children and is also a frequent manifestation of mitochondrial disease. The exact mechanisms underlying epilepsy in mitochondrial disease remain unclear and are thought to involve multiple contributing factors. This review explores common mitochondrial diseases associated with epilepsy, focusing on their prevalence, seizure types, EEG features, therapeutic strategies, and outcomes. It also summarizes the relationship between the molecular genetics of mitochondrial respiratory chain components and the development of epilepsy.https://www.frontiersin.org/articles/10.3389/fneur.2024.1499876/fullepilepsymitochondrial complexcoenzyme Qcytochrome Cgenes
spellingShingle Xuan Zhang
Xuan Zhang
Xuan Zhang
Bo Zhang
Bo Zhang
Bo Zhang
Zhiming Tao
Zhiming Tao
Zhiming Tao
Jianmin Liang
Jianmin Liang
Jianmin Liang
Mitochondrial disease and epilepsy in children
Frontiers in Neurology
epilepsy
mitochondrial complex
coenzyme Q
cytochrome C
genes
title Mitochondrial disease and epilepsy in children
title_full Mitochondrial disease and epilepsy in children
title_fullStr Mitochondrial disease and epilepsy in children
title_full_unstemmed Mitochondrial disease and epilepsy in children
title_short Mitochondrial disease and epilepsy in children
title_sort mitochondrial disease and epilepsy in children
topic epilepsy
mitochondrial complex
coenzyme Q
cytochrome C
genes
url https://www.frontiersin.org/articles/10.3389/fneur.2024.1499876/full
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