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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Frontiers Media S.A.
2025-01-01
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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. |
format | Article |
id | doaj-art-6dd663667d9f46b686270340753ec746 |
institution | Kabale University |
issn | 1664-2295 |
language | English |
publishDate | 2025-01-01 |
publisher | Frontiers Media S.A. |
record_format | Article |
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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