title: Mitochondrial disease and 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.
authors: Division of Pediatric Neurology, Department of Pediatrics, Pediatric Epilepsy Clinic, Severance Children's Hospital, Epilepsy Research Institute, Yonsei University College of Medicine, Seoul, Republic of Korea. hipo0207@yuhs.ac
authors: Hoon-Chul
authors: HC
authors: Kang
authors: Young-Mock
authors: YM
authors: Lee
authors: Heung Dong
authors: HD
authors: Kim
mesh_terms: D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism; D055423:Diet, Ketogenic; D004827:Epilepsy / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008928:Mitochondria / Q000235:genetics* / Q000378:metabolism; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics / Q000378:metabolism*; D009154:Mutation / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial
keywords: Epilepsy; Mitochondria; Respiratory chain complexes