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Mitochondrial disease and epilepsy

Authors
 Hoon-Chul Kang  ;  Young-Mock Lee  ;  Heung Dong Kim 
Citation
 BRAIN & DEVELOPMENT, Vol.35(8) : 757-761, 2013 
Journal Title
 BRAIN & DEVELOPMENT 
ISSN
 0387-7604 
Issue Date
2013
MeSH
DNA, Mitochondrial/genetics* ; DNA, Mitochondrial/metabolism ; Diet, Ketogenic ; Epilepsy/genetics* ; Epilepsy/metabolism ; Humans ; Mitochondria/genetics* ; Mitochondria/metabolism ; Mitochondrial Encephalomyopathies/genetics ; Mitochondrial Encephalomyopathies/metabolism* ; Mutation/genetics
Keywords
Mitochondria ; Respiratory chain complexes ; Epilepsy
Abstract
Mitochondrial diseases are a group of diseases caused by dysfunctional mitochondria, organelles that generate energy for the cell. Mitochondrial diseases are often caused by mutations, acquired, or inherited in the mitochondrial DNA or nuclear genes that code for respiratory chain complexes in the mitochondrion. Mitochondrial diseases involve multiple organs and show heterogeneous and unpredictable progression. The most common clinical presentation of mitochondrial diseases is encephalomyopathy, and epileptic seizures can frequently occur as a presenting sign of mitochondrial encephalopathy. While whether mitochondrial dysfunction or epilepsy is the cause or consequence is still debatable, they may be interrelated to create a vicious cycle. Epileptic phenotypes vary in different mitochondrial diseases. At present, there are no curative treatments for mitochondrial diseases, and the efficacy of many anticonvulsants, vitamins, nutritional supplements, and the ketogenic diet remain to be proven. Understanding the pathophysiology of mitochondrial diseases may further facilitate effective diagnostic and therapeutic approaches to these diseases.
Full Text
http://www.sciencedirect.com/science/article/pii/S0387760413000247
DOI
10.1016/j.braindev.2013.01.006
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hoon Chul(강훈철) ORCID logo https://orcid.org/0000-0002-3659-8847
Kim, Heung Dong(김흥동) ORCID logo https://orcid.org/0000-0002-8031-7336
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/87373
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