{"id":"https://openalex.org/W2943882201","doi":"https://doi.org/10.3389/fneur.2019.00496","title":"Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations","display_name":"Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations","publication_year":2019,"publication_date":"2019-05-08","ids":{"openalex":"https://openalex.org/W2943882201","doi":"https://doi.org/10.3389/fneur.2019.00496","mag":"2943882201","pmid":"https://pubmed.ncbi.nlm.nih.gov/31139141","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6518976"},"language":"en","primary_location":{"id":"doi:10.3389/fneur.2019.00496","doi":"https://doi.org/10.3389/fneur.2019.00496","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fneur.2019.00496","pdf_url":"https://www.frontiersin.org/articles/10.3389/fneur.2019.00496/pdf","source":{"id":"https://openalex.org/S96975567","display_name":"Frontiers in Neurology","issn_l":"1664-2295","issn":["1664-2295"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.frontiersin.org/articles/10.3389/fneur.2019.00496/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5101397409","display_name":"Sunho Lee","orcid":"https://orcid.org/0000-0002-9334-1917","observed_orcids":["https://orcid.org/0000-0002-9334-1917"]},"institutions":[{"id":"https://openalex.org/I193775966","display_name":"Yonsei University","ror":"https://ror.org/01wjejq96","country_code":"KR","type":"education","lineage":["https://openalex.org/I193775966"]},{"id":"https://openalex.org/I4210160791","display_name":"Yonsei University Health System","ror":"https://ror.org/04sze3c15","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I193775966","https://openalex.org/I4210160791"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Sunho Lee","raw_affiliation_strings":["Departments of Pediatrics, Yonsei University College of Medicine, Seoul, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics, Yonsei University College of Medicine, Seoul, South Korea","institution_ids":["https://openalex.org/I193775966","https://openalex.org/I4210160791"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073041653","display_name":"Jihoon Na","orcid":"https://orcid.org/0000-0002-3051-2010","observed_orcids":["https://orcid.org/0000-0002-3051-2010"]},"institutions":[{"id":"https://openalex.org/I193775966","display_name":"Yonsei University","ror":"https://ror.org/01wjejq96","country_code":"KR","type":"education","lineage":["https://openalex.org/I193775966"]},{"id":"https://openalex.org/I4210160791","display_name":"Yonsei University Health System","ror":"https://ror.org/04sze3c15","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I193775966","https://openalex.org/I4210160791"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Ji-Hoon Na","raw_affiliation_strings":["Departments of Pediatrics, Yonsei University College of Medicine, Seoul, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics, Yonsei University College of Medicine, Seoul, South Korea","institution_ids":["https://openalex.org/I193775966","https://openalex.org/I4210160791"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5016661138","display_name":"Young\u2010Mock Lee","orcid":"https://orcid.org/0000-0002-5838-249X","observed_orcids":["https://orcid.org/0000-0002-5838-249X","https://orcid.org/0000-0002-7780-159X"]},"institutions":[{"id":"https://openalex.org/I193775966","display_name":"Yonsei University","ror":"https://ror.org/01wjejq96","country_code":"KR","type":"education","lineage":["https://openalex.org/I193775966"]},{"id":"https://openalex.org/I4210160791","display_name":"Yonsei University Health System","ror":"https://ror.org/04sze3c15","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I193775966","https://openalex.org/I4210160791"]}],"countries":["KR"],"is_corresponding":true,"raw_author_name":"Young-Mock Lee","raw_affiliation_strings":["Departments of Pediatrics, Yonsei University College of Medicine, Seoul, South Korea","Epilepsy Research Institute, Yonsei University College of Medicine, Seoul, South Korea"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics, Yonsei University College of Medicine, Seoul, South Korea","institution_ids":["https://openalex.org/I193775966","https://openalex.org/I4210160791"]},{"raw_affiliation_string":"Epilepsy Research Institute, Yonsei University College of Medicine, Seoul, South Korea","institution_ids":["https://openalex.org/I193775966","https://openalex.org/I4210160791"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5016661138"],"corresponding_institution_ids":["https://openalex.org/I193775966","https://openalex.org/I4210160791"],"apc_list":{"value":2950,"currency":"USD","value_usd":2950},"apc_paid":{"value":2950,"currency":"USD","value_usd":2950},"fwci":1.264,"has_fulltext":true,"cited_by_count":39,"citation_normalized_percentile":{"value":0.78157832,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"10","issue":null,"first_page":"496","last_page":"496"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.7627000212669373,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.7627000212669373,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10094","display_name":"Epilepsy research and treatment","score":0.14830000698566437,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.06920000165700912,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/leigh-syndrome","display_name":"Leigh syndrome","score":1.0},{"id":"https://openalex.org/keywords/mtdna-mutations","display_name":"mitochondrial DNA mutations","score":0.8429999947547913},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.9559999704360962},{"id":"https://openalex.org/keywords/mitochondrial-disease","display_name":"mitochondrial disease","score":0.8479999899864197},{"id":"https://openalex.org/keywords/focal-seizures","display_name":"focal seizures","score":0.9430000185966492},{"id":"https://openalex.org/keywords/eeg-abnormalities","display_name":"EEG abnormalities","score":0.7110000252723694},{"id":"https://openalex.org/keywords/gastrointestinal-symptoms","display_name":"gastrointestinal symptoms","score":0.8069999814033508},{"id":"https://openalex.org/keywords/brain-atrophy","display_name":"brain atrophy","score":0.9049999713897705},{"id":"https://openalex.org/keywords/brain-mri-findings","display_name":"brain MRI findings","score":0.46399998664855957},{"id":"https://openalex.org/keywords/neurodegeneration","display_name":"neurodegeneration","score":0.6600000262260437}],"concepts":[{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.8201876282691956},{"id":"https://openalex.org/C2778461778","wikidata":"https://www.wikidata.org/wiki/Q1815019","display_name":"Leigh disease","level":4,"score":0.6716609001159668},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.6244420409202576},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.6236911416053772},{"id":"https://openalex.org/C2777614518","wikidata":"https://www.wikidata.org/wiki/Q935710","display_name":"Mitochondrial disease","level":4,"score":0.5817728042602539},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.562712550163269},{"id":"https://openalex.org/C522805319","wikidata":"https://www.wikidata.org/wiki/Q179965","display_name":"Electroencephalography","level":2,"score":0.5414824485778809},{"id":"https://openalex.org/C2778734009","wikidata":"https://www.wikidata.org/wiki/Q55785625","display_name":"Epilepsy syndromes","level":3,"score":0.4675869941711426},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4538312554359436},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4366168975830078},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3786327540874481},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3310416042804718},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2346833348274231},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.1961269974708557},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.17195948958396912},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.3389/fneur.2019.00496","doi":"https://doi.org/10.3389/fneur.2019.00496","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fneur.2019.00496","pdf_url":"https://www.frontiersin.org/articles/10.3389/fneur.2019.00496/pdf","source":{"id":"https://openalex.org/S96975567","display_name":"Frontiers in Neurology","issn_l":"1664-2295","issn":["1664-2295"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Neurology","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:6518976","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6518976","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Front Neurol","raw_type":"Text"},{"id":"pmid:31139141","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31139141","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in neurology","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:fe10a4b89e494f1d851adde9314792b5","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/fe10a4b89e494f1d851adde9314792b5","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Frontiers in Neurology, Vol 10 (2019)","raw_type":"article"},{"id":"pmh:oai:ir.ymlib.yonsei.ac.kr:22282913/170918","doi":null,"is_oa":true,"landing_page_url":"https://ir.ymlib.yonsei.ac.kr/handle/22282913/170918","pdf_url":null,"source":{"id":"https://openalex.org/S4306400691","display_name":"YUHSpace (Yonsei University Medical Library)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I193775966","host_organization_name":"Yonsei University","host_organization_lineage":["https://openalex.org/I193775966"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article"}],"best_oa_location":{"id":"doi:10.3389/fneur.2019.00496","doi":"https://doi.org/10.3389/fneur.2019.00496","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fneur.2019.00496","pdf_url":"https://www.frontiersin.org/articles/10.3389/fneur.2019.00496/pdf","source":{"id":"https://openalex.org/S96975567","display_name":"Frontiers in Neurology","issn_l":"1664-2295","issn":["1664-2295"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Neurology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320322107","display_name":"Korea Health Industry Development Institute","ror":"https://ror.org/00fdzyk40"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2943882201.pdf","grobid_xml":"https://content.openalex.org/works/W2943882201.grobid-xml"},"referenced_works_count":36,"referenced_works":["https://openalex.org/W139161857","https://openalex.org/W1964229860","https://openalex.org/W1972264688","https://openalex.org/W1974411703","https://openalex.org/W1979675367","https://openalex.org/W1996323411","https://openalex.org/W1996980926","https://openalex.org/W1997641635","https://openalex.org/W2002504262","https://openalex.org/W2027909374","https://openalex.org/W2028278441","https://openalex.org/W2031723973","https://openalex.org/W2033964905","https://openalex.org/W2047243054","https://openalex.org/W2050515353","https://openalex.org/W2064653349","https://openalex.org/W2078714232","https://openalex.org/W2086339280","https://openalex.org/W2088910807","https://openalex.org/W2092105468","https://openalex.org/W2095626761","https://openalex.org/W2096119909","https://openalex.org/W2105729009","https://openalex.org/W2127614651","https://openalex.org/W2148403822","https://openalex.org/W2151617054","https://openalex.org/W2157229754","https://openalex.org/W2167627444","https://openalex.org/W2187203641","https://openalex.org/W2227296816","https://openalex.org/W2308924937","https://openalex.org/W2311842636","https://openalex.org/W2512341683","https://openalex.org/W2593873339","https://openalex.org/W2608202352","https://openalex.org/W2802032692"],"related_works":["https://openalex.org/W2970183116","https://openalex.org/W4200325219","https://openalex.org/W2148403822","https://openalex.org/W2001691274","https://openalex.org/W2885232243","https://openalex.org/W1992338727","https://openalex.org/W2042655038","https://openalex.org/W2280986261","https://openalex.org/W2792710174","https://openalex.org/W2055680623"],"abstract_inverted_index":{"Background:":[0],"Leigh":[1,42,62,75,103,170,216,255,278],"syndrome":[2,43,104,171,217,279],"is":[3],"a":[4,10,46,163,223],"mitochondrial":[5,47,52,72,219,265],"cytopathy":[6],"that":[7],"presents":[8],"as":[9],"neurodegenerative":[11],"disease":[12],"with":[13,102,124,172,215,254,280],"apparent":[14],"manifestation":[15],"in":[16,41,100,116,162,183,209,236,252],"the":[17,24,107,128,184,210,232,274],"central":[18,227],"nervous":[19,228],"system.":[20],"The":[21,174],"aim":[22],"of":[23,61,109,119,167,169,176,226,234,245,277],"present":[25],"study":[26],"was":[27,54,179,193,239],"to":[28,39,70,138,271],"describe":[29],"its":[30],"dominant":[31],"neurological":[32],"clinical":[33],"features":[34,99],"and":[35,84,97,141,158,199,218,247,263],"analyze":[36],"data":[37],"related":[38],"epilepsy":[40,185,211,235],"accompanied":[44],"by":[45],"DNA":[48,73,220,266],"mutation.":[49],"Methods:":[50],"Whole":[51],"sequencing":[53],"performed":[55],"on":[56,106,151],"125":[57],"patients":[58,67,101,122,135,168,262],"clinically":[59],"suspected":[60],"syndrome.":[63,76,256],"Among":[64],"them,":[65],"25":[66,120],"were":[68,87,114,136,160,203],"identified":[69],"have":[71,139],"associated":[74],"Electroencephalography":[77],"(EEG)":[78],"findings,":[79,83],"semiology,":[80],"brain":[81,92],"imaging":[82,95,258],"biochemical":[85,98],"results,":[86],"evaluated.":[88],"We":[89],"also":[90,204],"compared":[91],"magnetic":[93],"resonance":[94],"findings":[96,249],"based":[105],"presence":[108,175],"epilepsy.":[110,173,281],"Results:":[111],"Clinical":[112],"seizures":[113,126],"observed":[115],"14":[117],"out":[118],"enrolled":[121],"(56%),":[123],"focal":[125],"being":[127],"most":[129],"common":[130,251],"type":[131],"(6/14,":[132],"42.8%).":[133],"All":[134],"found":[137],"slow":[140],"disorganized":[142],"background":[143],"neural":[144],"activity":[145],"while":[146],"eight":[147],"exhibited":[148],"epileptic":[149],"discharges":[150],"EEG.":[152],"Mutations":[153],"at":[154],"base":[155],"pairs":[156],"10191":[157],"8993":[159],"revealed":[161],"relatively":[164],"larger":[165],"number":[166],"gastrointestinal":[177],"symptoms":[178],"significantly":[180,194],"more":[181,261],"frequent":[182],"group":[186],"(P":[187,196,206],"=":[188,197,207],"0.042).":[189],"Diffuse":[190],"cerebral":[191],"atrophy":[192],"increased":[195,205],"0.042)":[198],"cortex":[200],"signal":[201],"abnormalities":[202],"0.033)":[208],"group.":[212],"Conclusions:":[213],"Patients":[214],"mutations":[221],"had":[222],"high":[224],"proportion":[225],"system":[229],"comorbidities,":[230],"though":[231],"prevalence":[233],"this":[237],"population":[238],"not":[240],"particularly":[241],"high.":[242],"Various":[243],"types":[244],"seizure":[246],"EEG":[248],"are":[250,269],"those":[253],"Future":[257],"studies":[259],"involving":[260],"proper":[264],"mutation":[267],"analyses":[268],"needed":[270],"further":[272],"evaluate":[273],"natural":[275],"course":[276]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":9},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":6},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2019-05-16T00:00:00"}