Literature DB >> 34206602

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

Dorota Wesół-Kucharska1, Dariusz Rokicki1, Aleksandra Jezela-Stanek2.   

Abstract

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.

Entities:  

Keywords:  antiepileptic drugs (AED); epilepsy; mitochondrial disorders; mtDNA; nDNA; treatment

Year:  2021        PMID: 34206602     DOI: 10.3390/children8070532

Source DB:  PubMed          Journal:  Children (Basel)        ISSN: 2227-9067


  61 in total

Review 1.  Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency--An overview.

Authors:  Suman Bhandary; Kripamoy Aguan
Journal:  Epilepsy Res       Date:  2015-07-08       Impact factor: 3.045

2.  Epileptic phenotypes in children with respiratory chain disorders.

Authors:  Sandra El Sabbagh; Anne-Sophie Lebre; Nadia Bahi-Buisson; Pascale Delonlay; Christine Soufflet; Nathalie Boddaert; Marlène Rio; Agnès Rötig; Olivier Dulac; Arnold Munnich; Isabelle Desguerre
Journal:  Epilepsia       Date:  2010-02-19       Impact factor: 5.864

Review 3.  Advances in the treatment of mitochondrial epilepsies.

Authors:  Shamima Rahman
Journal:  Epilepsy Behav       Date:  2019-10-31       Impact factor: 2.937

4.  Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions.

Authors:  Young Mock Lee; Hoon Chul Kang; Joon Soo Lee; Se Hoon Kim; Eung Yeop Kim; Seung Koo Lee; Abdelhamid Slama; Heung Dong Kim
Journal:  Epilepsia       Date:  2008-02-05       Impact factor: 5.864

5.  Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations.

Authors:  Sunho Lee; Ji-Hoon Na; Young-Mock Lee
Journal:  Front Neurol       Date:  2019-05-08       Impact factor: 4.003

6.  Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

Authors:  Jing Tan; Matias Wagner; Sarah L Stenton; Tim M Strom; Saskia B Wortmann; Holger Prokisch; Thomas Meitinger; Konrad Oexle; Thomas Klopstock
Journal:  EBioMedicine       Date:  2020-04-16       Impact factor: 8.143

7.  Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome.

Authors:  Gizem Inak; Agnieszka Rybak-Wolf; Pawel Lisowski; Tancredi M Pentimalli; René Jüttner; Petar Glažar; Karan Uppal; Emanuela Bottani; Dario Brunetti; Christopher Secker; Annika Zink; David Meierhofer; Marie-Thérèse Henke; Monishita Dey; Ummi Ciptasari; Barbara Mlody; Tobias Hahn; Maria Berruezo-Llacuna; Nikos Karaiskos; Michela Di Virgilio; Johannes A Mayr; Saskia B Wortmann; Josef Priller; Michael Gotthardt; Dean P Jones; Ertan Mayatepek; Werner Stenzel; Sebastian Diecke; Ralf Kühn; Erich E Wanker; Nikolaus Rajewsky; Markus Schuelke; Alessandro Prigione
Journal:  Nat Commun       Date:  2021-03-26       Impact factor: 14.919

Review 8.  Myoclonus epilepsy in mitochondrial disorders.

Authors:  Costanza Lamperti; Massimo Zeviani
Journal:  Epileptic Disord       Date:  2016-09-01       Impact factor: 1.819

Review 9.  Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.

Authors:  Sarah L Stenton; Holger Prokisch
Journal:  EBioMedicine       Date:  2020-05-23       Impact factor: 11.205

Review 10.  Clinical trials in mitochondrial disorders, an update.

Authors:  Mohammed Almannai; Ayman W El-Hattab; May Ali; Claudia Soler-Alfonso; Fernando Scaglia
Journal:  Mol Genet Metab       Date:  2020-10-06       Impact factor: 4.797

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