336 570

Cited 16 times in

Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations

DC Field Value Language
dc.contributor.author나지훈-
dc.contributor.author이선호-
dc.contributor.author이영목-
dc.date.accessioned2019-09-20T07:28:32Z-
dc.date.available2019-09-20T07:28:32Z-
dc.date.issued2019-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/170918-
dc.description.abstractBackground: Leigh syndrome is a mitochondrial cytopathy that presents as a neurodegenerative disease with apparent manifestation in the central nervous system. The aim of the present study was to describe its dominant neurological clinical features and analyze data related to epilepsy in Leigh syndrome accompanied by a mitochondrial DNA mutation. Methods: Whole mitochondrial sequencing was performed on 125 patients clinically suspected of Leigh syndrome. Among them, 25 patients were identified to have mitochondrial DNA associated Leigh syndrome. Electroencephalography (EEG) findings, semiology, brain imaging findings, and biochemical results, were evaluated. We also compared brain magnetic resonance imaging findings and biochemical features in patients with Leigh syndrome based on the presence of epilepsy. Results: Clinical seizures were observed in 14 out of 25 enrolled patients (56%), with focal seizures being the most common type (6/14, 42.8%). All patients were found to have slow and disorganized background neural activity while eight exhibited epileptic discharges on EEG. Mutations at base pairs 10,191 and 8,993 were revealed in a relatively larger number of patients of Leigh syndrome with epilepsy. The presence of gastrointestinal symptoms was significantly more frequent in the epilepsy group (P = 0.042). Diffuse cerebral atrophy was significantly increased (P = 0.042) and cortex signal abnormalities were also increased (P = 0.033) in the epilepsy group. Conclusions: Patients with Leigh syndrome and mitochondrial DNA mutations had a high proportion of central nervous system comorbidities, though the prevalence of epilepsy in this population was not particularly high. Various types of seizure and EEG findings are common in those with Leigh syndrome. Future imaging studies involving more patients and proper mitochondrial DNA mutation analyses are needed to further evaluate the natural course of Leigh syndrome with epilepsy.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherFrontiers Research Foundation-
dc.relation.isPartOfFrontiers in Neurology-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.titleEpilepsy in Leigh Syndrome With Mitochondrial DNA Mutations-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아청소년과학교실)-
dc.contributor.googleauthorSunho Lee-
dc.contributor.googleauthorJi-Hoon Na-
dc.contributor.googleauthorYoung-Mock Lee-
dc.identifier.doi10.3389/fneur.2019.00496-
dc.contributor.localIdA05215-
dc.contributor.localIdA04845-
dc.contributor.localIdA02955-
dc.relation.journalcodeJ02996-
dc.identifier.eissn1664-2295-
dc.identifier.pmid31139141-
dc.subject.keywordLeigh syndrome-
dc.subject.keywordepilepsy-
dc.subject.keywordmitochondria-
dc.subject.keywordmitochondrial DNA-
dc.subject.keywordneuroimaging-
dc.contributor.alternativeNameNa, Ji Hoon-
dc.contributor.affiliatedAuthor나지훈-
dc.contributor.affiliatedAuthor이선호-
dc.contributor.affiliatedAuthor이영목-
dc.citation.volume10-
dc.citation.startPage496-
dc.identifier.bibliographicCitationFrontiers in Neurology, Vol.10 : 496, 2019-
dc.identifier.rimsid64165-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.