Mitochondrial disease and epilepsy

hoonchul kang, Young Mock Lee, HeungDong Kim

Research output: Contribution to journalReview article

30 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)757-761
Number of pages5
JournalBrain and Development
Volume35
Issue number8
DOIs
Publication statusPublished - 2013 Sep 1

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Mitochondrial Diseases
Epilepsy
Mitochondria
Ketogenic Diet
Electron Transport
Mitochondrial DNA
Vitamins
Organelles
Anticonvulsants
Phenotype
Mutation
Therapeutics
Genes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

kang, hoonchul ; Lee, Young Mock ; Kim, HeungDong. / Mitochondrial disease and epilepsy. In: Brain and Development. 2013 ; Vol. 35, No. 8. pp. 757-761.
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Mitochondrial disease and epilepsy. / kang, hoonchul; Lee, Young Mock; Kim, HeungDong.

In: Brain and Development, Vol. 35, No. 8, 01.09.2013, p. 757-761.

Research output: Contribution to journalReview article

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