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Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment

Mitochondrial diseases are a heterogeneous group of diseases resulting from energy deficit and reduced adenosine triphosphate (ATP) production due to impaired oxidative phosphorylation. The manifestation of mitochondrial disease is usually multi-organ. Epilepsy is one of the most common manifestatio...

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Autores principales: Wesół-Kucharska, Dorota, Rokicki, Dariusz, Jezela-Stanek, Aleksandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303198/
https://www.ncbi.nlm.nih.gov/pubmed/34206602
http://dx.doi.org/10.3390/children8070532
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author Wesół-Kucharska, Dorota
Rokicki, Dariusz
Jezela-Stanek, Aleksandra
author_facet Wesół-Kucharska, Dorota
Rokicki, Dariusz
Jezela-Stanek, Aleksandra
author_sort Wesół-Kucharska, Dorota
collection PubMed
description Mitochondrial diseases are a heterogeneous group of diseases resulting from energy deficit and reduced adenosine triphosphate (ATP) production due to impaired oxidative phosphorylation. The manifestation of mitochondrial disease is usually multi-organ. Epilepsy is one of the most common manifestations of diseases resulting from mitochondrial dysfunction, especially in children. The onset of epilepsy is associated with poor prognosis, while its treatment is very challenging, which further adversely affects the course of these disorders. Fortunately, our knowledge of mitochondrial diseases is still growing, which gives hope for patients to improve their condition in the future. The paper presents the pathophysiology, clinical picture and treatment options for epilepsy in patients with mitochondrial disease.
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spelling pubmed-83031982021-07-25 Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment Wesół-Kucharska, Dorota Rokicki, Dariusz Jezela-Stanek, Aleksandra Children (Basel) Review Mitochondrial diseases are a heterogeneous group of diseases resulting from energy deficit and reduced adenosine triphosphate (ATP) production due to impaired oxidative phosphorylation. The manifestation of mitochondrial disease is usually multi-organ. Epilepsy is one of the most common manifestations of diseases resulting from mitochondrial dysfunction, especially in children. The onset of epilepsy is associated with poor prognosis, while its treatment is very challenging, which further adversely affects the course of these disorders. Fortunately, our knowledge of mitochondrial diseases is still growing, which gives hope for patients to improve their condition in the future. The paper presents the pathophysiology, clinical picture and treatment options for epilepsy in patients with mitochondrial disease. MDPI 2021-06-22 /pmc/articles/PMC8303198/ /pubmed/34206602 http://dx.doi.org/10.3390/children8070532 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Wesół-Kucharska, Dorota
Rokicki, Dariusz
Jezela-Stanek, Aleksandra
Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment
title Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment
title_full Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment
title_fullStr Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment
title_full_unstemmed Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment
title_short Epilepsy in Mitochondrial Diseases—Current State of Knowledge on Aetiology and Treatment
title_sort epilepsy in mitochondrial diseases—current state of knowledge on aetiology and treatment
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303198/
https://www.ncbi.nlm.nih.gov/pubmed/34206602
http://dx.doi.org/10.3390/children8070532
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