{"id":"https://openalex.org/W3031106951","doi":"https://doi.org/10.3760/cma.j.issn.2095-428x.2018.16.015","title":"Analysis of clinical characteristics and gene mutations of megalencephalic leukoencephalopathy with subcortical cysts in a family","display_name":"Analysis of clinical characteristics and gene mutations of megalencephalic leukoencephalopathy with subcortical cysts in a family","publication_year":2018,"publication_date":"2018-08-20","ids":{"openalex":"https://openalex.org/W3031106951","doi":"https://doi.org/10.3760/cma.j.issn.2095-428x.2018.16.015","mag":"3031106951"},"language":"en","primary_location":{"id":"mag:3031106951","doi":"https://doi.org/10.3760/cma.j.issn.2095-428x.2018.16.015","is_oa":false,"landing_page_url":"http://rs.yiigle.com/CN101070201816/1062484.htm","pdf_url":null,"source":{"id":"https://openalex.org/S3012608218","display_name":"Zhonghua shiyong erke linchuang zazhi","issn_l":"2095-428X","issn":["2095-428X"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["poland-20","russia-white-list-4"],"host_organization":"https://openalex.org/P4320800525","host_organization_name":"Chinese Medical Association","host_organization_lineage":["https://openalex.org/P4320800525"],"host_organization_lineage_names":["Chinese Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Zhonghua shiyong erke linchuang zazhi","raw_type":null},"volume":null,"type":"article","indexed_in":[],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5004695739","display_name":"Yanli Zhu","orcid":"https://orcid.org/0000-0001-8490-8478","observed_orcids":["https://orcid.org/0000-0001-8490-8478"]},"institutions":[{"id":"https://openalex.org/I4210105514","display_name":"Capital Institute of Pediatrics","ror":"https://ror.org/00zw6et16","country_code":"CN","type":"facility","lineage":["https://openalex.org/I4210105514"]},{"id":"https://openalex.org/I4210160553","display_name":"Children's Hospital of Capital Institute of Pediatrics","ror":"https://ror.org/05hyj7861","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210105514","https://openalex.org/I4210160553"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yanli Zhu","raw_affiliation_strings":["Department of Neurology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China"],"raw_orcid":"https://orcid.org/0000-0001-8490-8478","affiliations":[{"raw_affiliation_string":"Department of Neurology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China","institution_ids":["https://openalex.org/I4210105514","https://openalex.org/I4210160553"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069822596","display_name":"Xiaoyin Peng","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210105514","display_name":"Capital Institute of Pediatrics","ror":"https://ror.org/00zw6et16","country_code":"CN","type":"facility","lineage":["https://openalex.org/I4210105514"]},{"id":"https://openalex.org/I4210160553","display_name":"Children's Hospital of Capital Institute of Pediatrics","ror":"https://ror.org/05hyj7861","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210105514","https://openalex.org/I4210160553"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiaoyin Peng","raw_affiliation_strings":["Department of Neurology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China","institution_ids":["https://openalex.org/I4210105514","https://openalex.org/I4210160553"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Liwen Wang","orcid":"https://orcid.org/0000-0002-0297-9553","observed_orcids":["https://orcid.org/0000-0002-0297-9553"]},"institutions":[{"id":"https://openalex.org/I4210105514","display_name":"Capital Institute of Pediatrics","ror":"https://ror.org/00zw6et16","country_code":"CN","type":"facility","lineage":["https://openalex.org/I4210105514"]},{"id":"https://openalex.org/I4210160553","display_name":"Children's Hospital of Capital Institute of Pediatrics","ror":"https://ror.org/05hyj7861","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210105514","https://openalex.org/I4210160553"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Liwen Wang","raw_affiliation_strings":["Department of Neurology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China"],"raw_orcid":"https://orcid.org/0000-0002-0297-9553","affiliations":[{"raw_affiliation_string":"Department of Neurology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China","institution_ids":["https://openalex.org/I4210105514","https://openalex.org/I4210160553"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088715510","display_name":"Xiaoli Yi","orcid":"https://orcid.org/0000-0002-6104-8687","observed_orcids":["https://orcid.org/0000-0002-6104-8687"]},"institutions":[{"id":"https://openalex.org/I4210105514","display_name":"Capital Institute of Pediatrics","ror":"https://ror.org/00zw6et16","country_code":"CN","type":"facility","lineage":["https://openalex.org/I4210105514"]},{"id":"https://openalex.org/I4210160553","display_name":"Children's Hospital of Capital Institute of Pediatrics","ror":"https://ror.org/05hyj7861","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210105514","https://openalex.org/I4210160553"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiaoli Yi","raw_affiliation_strings":["Department of Radiology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China"],"raw_orcid":"https://orcid.org/0000-0002-6104-8687","affiliations":[{"raw_affiliation_string":"Department of Radiology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China","institution_ids":["https://openalex.org/I4210105514","https://openalex.org/I4210160553"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5101736091","display_name":"Jian Tao Yang","orcid":"https://orcid.org/0000-0002-2273-4510","observed_orcids":["https://orcid.org/0000-0002-2273-4510"]},"institutions":[{"id":"https://openalex.org/I4210105514","display_name":"Capital Institute of Pediatrics","ror":"https://ror.org/00zw6et16","country_code":"CN","type":"facility","lineage":["https://openalex.org/I4210105514"]},{"id":"https://openalex.org/I4210160553","display_name":"Children's Hospital of Capital Institute of Pediatrics","ror":"https://ror.org/05hyj7861","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210105514","https://openalex.org/I4210160553"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Jian Yang","raw_affiliation_strings":["Department of Neurology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China"],"raw_orcid":"https://orcid.org/0000-0002-2273-4510","affiliations":[{"raw_affiliation_string":"Department of Neurology, Children's Hospital, Capital Institute of Pediatrics, Beijing 100020, China","institution_ids":["https://openalex.org/I4210105514","https://openalex.org/I4210160553"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.19816,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"33","issue":"16","first_page":"1263","last_page":"1266"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.8295999765396118,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.8295999765396118,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.06989999860525131,"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"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.027499999850988388,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/megalencephalic-leukoencephalopathy-with-subcortical-cysts","display_name":"megalencephalic leukoencephalopathy with subcortical cysts","score":0.9990000128746033},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.5879999995231628},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.906000018119812},{"id":"https://openalex.org/keywords/brain-atrophy","display_name":"brain atrophy","score":0.6819999814033508},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.7639999985694885},{"id":"https://openalex.org/keywords/family-pedigree","display_name":"family pedigree","score":0.3330000042915344}],"concepts":[{"id":"https://openalex.org/C2778583010","wikidata":"https://www.wikidata.org/wiki/Q3237081","display_name":"Leukoencephalopathy","level":3,"score":0.6480014324188232},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.6125093102455139},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.5799318552017212},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.5231719613075256},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4971909821033478},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4753175377845764},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.4442330002784729},{"id":"https://openalex.org/C2780623815","wikidata":"https://www.wikidata.org/wiki/Q1255956","display_name":"Dravet syndrome","level":3,"score":0.43152570724487305},{"id":"https://openalex.org/C2781192897","wikidata":"https://www.wikidata.org/wiki/Q822050","display_name":"White matter","level":3,"score":0.4212813973426819},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.41981589794158936},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3593575954437256},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.34321272373199463},{"id":"https://openalex.org/C143409427","wikidata":"https://www.wikidata.org/wiki/Q161238","display_name":"Magnetic resonance imaging","level":2,"score":0.3256877064704895},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.32501089572906494},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3003586530685425},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.24541017413139343},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.09224086999893188},{"id":"https://openalex.org/C126838900","wikidata":"https://www.wikidata.org/wiki/Q77604","display_name":"Radiology","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:3031106951","doi":"https://doi.org/10.3760/cma.j.issn.2095-428x.2018.16.015","is_oa":false,"landing_page_url":"http://rs.yiigle.com/CN101070201816/1062484.htm","pdf_url":null,"source":{"id":"https://openalex.org/S3012608218","display_name":"Zhonghua shiyong erke linchuang zazhi","issn_l":"2095-428X","issn":["2095-428X"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":["poland-20","russia-white-list-4"],"host_organization":"https://openalex.org/P4320800525","host_organization_name":"Chinese Medical Association","host_organization_lineage":["https://openalex.org/P4320800525"],"host_organization_lineage_names":["Chinese Medical Association"],"type":"journal"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"Zhonghua shiyong erke linchuang zazhi","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2362903123","https://openalex.org/W2392205899","https://openalex.org/W2465781276","https://openalex.org/W2015116194","https://openalex.org/W2011752532","https://openalex.org/W1975162799","https://openalex.org/W2028113381","https://openalex.org/W4391722804","https://openalex.org/W2047295364","https://openalex.org/W2426408619"],"abstract_inverted_index":{"Objective\r\nTo":[0],"analyze":[1],"the":[2,17,32,41,46,53,58,64,83,100,133,145,165,178,210],"clinical":[3,29,87],"characteristics":[4,19],"and":[5,34,40,48,71,104,136,155,170,202,223],"genetic":[6,18,27],"variation":[7],"of":[8,31,45,95,187,195,206],"megalencephalic":[9],"leukoencephalopathy":[10,232],"with":[11,127,148,233],"subcortical":[12,234],"cysts(MCL),":[13],"then":[14,99,137],"to":[15,22],"explore":[16],"so":[20],"as":[21,82],"help":[23],"families":[24],"by":[25,62],"providing":[26],"counseling.\r\n\r\n\r\nMethods\r\nThe":[28],"data":[30],"children":[33,47,59,201],"their":[35],"family":[36,49],"members":[37,50],"were":[38,51,89,189],"collected,":[39],"peripheral":[42],"blood":[43],"DNA":[44],"extracted.Then,":[52],"MLC1":[54,166,213],"gene":[55,141,214],"mutation":[56,220],"in":[57,80,91,110,120,132,164,197,200],"was":[60,108],"detected":[61],"using":[63],"target":[65],"sequence":[66],"capture":[67],"high-throughput":[68],"sequencing":[69,73],"technology":[70],"Sanger":[72],"technology.\r\n\r\n\r\nResults\r\n(1)MCL":[74],"often":[75],"presented":[76],"abnormal":[77,125,203],"head":[78,113,204],"circumference":[79,205],"infants":[81,207],"first":[84,211],"symptom.The":[85,212],"main":[86],"manifestations":[88],"hypoevolutism":[90,196],"motor":[92,198],"development,":[93],"retrogression":[94],"early":[96,111,134],"school":[97],"age,":[98],"movement":[101],"disorder":[102],"progressed":[103],"finally":[105],"paralyzed;":[106],"epilepsy":[107],"common":[109],"childhood;":[112],"magnetic":[114],"resonance":[115],"imaging":[116],"showed":[117,138,143],"white":[118],"matter":[119],"bilateral":[121],"cerebral":[122],"hemisphere":[123],"diffusing":[124],"signal":[126],"temporal":[128],"lobe":[129],"cystic":[130],"change":[131],"stage,":[135],"brain":[139],"atrophy.(2)The":[140],"results":[142],"that":[144],"2":[146],"girls":[147],"MLC":[149],"had":[150],"both":[151],"c.":[152,156,174,181,215],"368C>T":[153,175],"(p.Thr123Ile)":[154],"353C>T":[157,182],"(p.Thr118Met)":[158,183],"complex":[159],"heterozygous":[160,184],"variation,":[161,185],"which":[162],"existed":[163],"gene.The":[167],"girls\u2032":[168],"father":[169],"a":[171,218],"sister":[172],"carried":[173,180],"(p.Thr123Ile),":[176],"while":[177],"mother":[179],"all":[186],"whom":[188],"normal":[190],"phenotypes.\r\n\r\n\r\nConclusions\r\nMCL":[191],"is":[192,208,217],"one":[193],"cause":[194],"development":[199],"usually":[209],"368C>T(p.Thr123Ile)":[216],"pathogenic":[219],"for":[221],"MLC,":[222],"may":[224],"be":[225],"another":[226],"new":[227],"pa-thogenic":[228],"mutation.\r\n\r\n\r\nKey":[229],"words:":[230],"\r\nMegalencephalic":[231],"cysts;\u00a0MLC1":[235],"gene;\u00a0Mutation":[236]},"counts_by_year":[],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2020-06-05T00:00:00"}
