Seizure Semiology, EEG, and Imaging Findings in Epilepsy Secondary to Mitochondrial Disease

Background: Identification of an underlying mitochondrial disorder can be challenging due to the significant phenotypic variability between and within specific disorders. Epilepsy can be a presenting symptom with several mitochondrial disorders. In this study, we evaluated clinical, electrophysiolog...

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Autores principales:	Anthony L. Fine, Greta Liebo, Ralitza H. Gavrilova, Jeffrey W. Britton
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	EEG mitochondria genetic neuroimaging epilepsy Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/081c7dd35b91410e9fa2018dfdcefb39
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spelling	oai:doaj.org-article:081c7dd35b91410e9fa2018dfdcefb392021-12-01T10:59:54ZSeizure Semiology, EEG, and Imaging Findings in Epilepsy Secondary to Mitochondrial Disease1664-229510.3389/fneur.2021.779052https://doaj.org/article/081c7dd35b91410e9fa2018dfdcefb392021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fneur.2021.779052/fullhttps://doaj.org/toc/1664-2295Background: Identification of an underlying mitochondrial disorder can be challenging due to the significant phenotypic variability between and within specific disorders. Epilepsy can be a presenting symptom with several mitochondrial disorders. In this study, we evaluated clinical, electrophysiologic, and imaging features in patients with epilepsy and mitochondrial disorders to identify common features, which could aid in earlier identification of a mitochondrial etiology.Methods: This is a retrospective case series from January 2011 to December 2019 at a tertiary referral center of patients with epilepsy and a genetically confirmed diagnosis of a mitochondrial disorder. A total of 164 patients were reviewed with 20 patients fulfilling inclusion criteria.Results: A total of 20 patients (14 females, 6 males) aged 0.5–61 years with epilepsy and genetically confirmed mitochondrial disorders were identified. Status epilepticus occurred in 15 patients, with focal status epilepticus in 13 patients, including 9 patients with visual features. Abnormalities over the posterior cerebral regions were seen in 66% of ictal recordings and 44% of imaging studies. All the patients were on nutraceutical supplementation with no significant change in disease progression seen. At last follow-up, eight patients were deceased and the remainder had moderate-to-severe disability.Discussion: In this series of patients with epilepsy and mitochondrial disorders, we found increased propensity for seizures arising from the posterior cerebral regions. Over time, electroencephalogram (EEG) and imaging abnormalities increasingly occurred over the posterior cerebral regions. Focal seizures and focal status epilepticus with visual symptoms were common. Additional study is needed on nutraceutical supplementation in mitochondrial disorders.Anthony L. FineGreta LieboRalitza H. GavrilovaRalitza H. GavrilovaJeffrey W. BrittonFrontiers Media S.A.articleEEGmitochondriageneticneuroimagingepilepsyNeurology. Diseases of the nervous systemRC346-429ENFrontiers in Neurology, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	EEG mitochondria genetic neuroimaging epilepsy Neurology. Diseases of the nervous system RC346-429
spellingShingle	EEG mitochondria genetic neuroimaging epilepsy Neurology. Diseases of the nervous system RC346-429 Anthony L. Fine Greta Liebo Ralitza H. Gavrilova Ralitza H. Gavrilova Jeffrey W. Britton Seizure Semiology, EEG, and Imaging Findings in Epilepsy Secondary to Mitochondrial Disease
description	Background: Identification of an underlying mitochondrial disorder can be challenging due to the significant phenotypic variability between and within specific disorders. Epilepsy can be a presenting symptom with several mitochondrial disorders. In this study, we evaluated clinical, electrophysiologic, and imaging features in patients with epilepsy and mitochondrial disorders to identify common features, which could aid in earlier identification of a mitochondrial etiology.Methods: This is a retrospective case series from January 2011 to December 2019 at a tertiary referral center of patients with epilepsy and a genetically confirmed diagnosis of a mitochondrial disorder. A total of 164 patients were reviewed with 20 patients fulfilling inclusion criteria.Results: A total of 20 patients (14 females, 6 males) aged 0.5–61 years with epilepsy and genetically confirmed mitochondrial disorders were identified. Status epilepticus occurred in 15 patients, with focal status epilepticus in 13 patients, including 9 patients with visual features. Abnormalities over the posterior cerebral regions were seen in 66% of ictal recordings and 44% of imaging studies. All the patients were on nutraceutical supplementation with no significant change in disease progression seen. At last follow-up, eight patients were deceased and the remainder had moderate-to-severe disability.Discussion: In this series of patients with epilepsy and mitochondrial disorders, we found increased propensity for seizures arising from the posterior cerebral regions. Over time, electroencephalogram (EEG) and imaging abnormalities increasingly occurred over the posterior cerebral regions. Focal seizures and focal status epilepticus with visual symptoms were common. Additional study is needed on nutraceutical supplementation in mitochondrial disorders.
format	article
author	Anthony L. Fine Greta Liebo Ralitza H. Gavrilova Ralitza H. Gavrilova Jeffrey W. Britton
author_facet	Anthony L. Fine Greta Liebo Ralitza H. Gavrilova Ralitza H. Gavrilova Jeffrey W. Britton
author_sort	Anthony L. Fine
title	Seizure Semiology, EEG, and Imaging Findings in Epilepsy Secondary to Mitochondrial Disease
title_short	Seizure Semiology, EEG, and Imaging Findings in Epilepsy Secondary to Mitochondrial Disease
title_full	Seizure Semiology, EEG, and Imaging Findings in Epilepsy Secondary to Mitochondrial Disease
title_fullStr	Seizure Semiology, EEG, and Imaging Findings in Epilepsy Secondary to Mitochondrial Disease
title_full_unstemmed	Seizure Semiology, EEG, and Imaging Findings in Epilepsy Secondary to Mitochondrial Disease
title_sort	seizure semiology, eeg, and imaging findings in epilepsy secondary to mitochondrial disease
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/081c7dd35b91410e9fa2018dfdcefb39
work_keys_str_mv	AT anthonylfine seizuresemiologyeegandimagingfindingsinepilepsysecondarytomitochondrialdisease AT gretaliebo seizuresemiologyeegandimagingfindingsinepilepsysecondarytomitochondrialdisease AT ralitzahgavrilova seizuresemiologyeegandimagingfindingsinepilepsysecondarytomitochondrialdisease AT ralitzahgavrilova seizuresemiologyeegandimagingfindingsinepilepsysecondarytomitochondrialdisease AT jeffreywbritton seizuresemiologyeegandimagingfindingsinepilepsysecondarytomitochondrialdisease
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Seizure Semiology, EEG, and Imaging Findings in Epilepsy Secondary to Mitochondrial Disease

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