{"id":"https://openalex.org/W2909591822","doi":"https://doi.org/10.1055/s-0038-1677489","title":"A De novo Loss-of-Function Mutation in PAFAH1B1 Identified in a Single Case with Agyria\u2013Pachygyria Complex","display_name":"A De novo Loss-of-Function Mutation in PAFAH1B1 Identified in a Single Case with Agyria\u2013Pachygyria Complex","publication_year":2019,"publication_date":"2019-01-07","ids":{"openalex":"https://openalex.org/W2909591822","doi":"https://doi.org/10.1055/s-0038-1677489","mag":"2909591822"},"language":"en","primary_location":{"id":"doi:10.1055/s-0038-1677489","doi":"https://doi.org/10.1055/s-0038-1677489","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-0038-1677489","pdf_url":null,"source":{"id":"https://openalex.org/S2764819133","display_name":"Journal of Pediatric Neurology","issn_l":"1304-2580","issn":["1304-2580","1875-9041"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","jufo-1","norway-1","poland-20","russia-white-list-4"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Pediatric Neurology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"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/A5033062302","display_name":"Yali Ou","orcid":"https://orcid.org/0000-0001-6226-5512","observed_orcids":["https://orcid.org/0000-0001-6226-5512"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I139660479","display_name":"Central South University","ror":"https://ror.org/00f1zfq44","country_code":"CN","type":"education","lineage":["https://openalex.org/I139660479"]},{"id":"https://openalex.org/I4210088259","display_name":"National Institute of Dental and Craniofacial Research","ror":"https://ror.org/004a2wv92","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210088259"]},{"id":"https://openalex.org/I4210159865","display_name":"Xiangya Hospital Central South University","ror":"https://ror.org/05c1yfj14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210159865"]}],"countries":["CN","US"],"is_corresponding":false,"raw_author_name":"Yali Ou","raw_affiliation_strings":["Department of Cardiology, First Xiangya Hospital, Central South University, Changsha, Hunan, China","Experimental Medicine Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, First Xiangya Hospital, Central South University, Changsha, Hunan, China","institution_ids":["https://openalex.org/I139660479","https://openalex.org/I4210159865"]},{"raw_affiliation_string":"Experimental Medicine Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, United States","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210088259"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064642234","display_name":"Bingwu Xiang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210099512","display_name":"Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University","ror":"https://ror.org/0156rhd17","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210099512"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Bingwu Xiang","raw_affiliation_strings":["Physical Medicine and Rehabilitation Center, The Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University, Zhejiang, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Physical Medicine and Rehabilitation Center, The Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University, Zhejiang, China","institution_ids":["https://openalex.org/I4210099512"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020790702","display_name":"Liu Yang","orcid":"https://orcid.org/0000-0002-4179-8587","observed_orcids":["https://orcid.org/0000-0002-4179-8587"]},"institutions":[{"id":"https://openalex.org/I4210099512","display_name":"Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University","ror":"https://ror.org/0156rhd17","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210099512"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Liu Yang","raw_affiliation_strings":["Physical Medicine and Rehabilitation Center, The Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University, Zhejiang, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Physical Medicine and Rehabilitation Center, The Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University, Zhejiang, China","institution_ids":["https://openalex.org/I4210099512"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100344430","display_name":"Wei Chen","orcid":"https://orcid.org/0000-0002-4040-6721","observed_orcids":["https://orcid.org/0000-0002-4040-6721"]},"institutions":[{"id":"https://openalex.org/I27781120","display_name":"Wenzhou Medical University","ror":"https://ror.org/00rd5t069","country_code":"CN","type":"education","lineage":["https://openalex.org/I27781120"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Wei Chen","raw_affiliation_strings":["Department of Radiology, The Second Affiliated Hospital of Wenzhou Medical University, Zhejiang, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Radiology, The Second Affiliated Hospital of Wenzhou Medical University, Zhejiang, China","institution_ids":["https://openalex.org/I27781120"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100441917","display_name":"Xiang 'Anthony' Chen","orcid":"https://orcid.org/0000-0002-2499-8261","observed_orcids":["https://orcid.org/0000-0002-2499-8261"]},"institutions":[{"id":"https://openalex.org/I4210099512","display_name":"Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University","ror":"https://ror.org/0156rhd17","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210099512"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiang Chen","raw_affiliation_strings":["Physical Medicine and Rehabilitation Center, The Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University, Zhejiang, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Physical Medicine and Rehabilitation Center, The Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University, Zhejiang, China","institution_ids":["https://openalex.org/I4210099512"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5059643162","display_name":"Tao Cai","orcid":"https://orcid.org/0000-0002-2877-8637","observed_orcids":["https://orcid.org/0000-0002-2877-8637","https://orcid.org/0000-0003-0064-2225"]},"institutions":[{"id":"https://openalex.org/I1299303238","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88","country_code":"US","type":"government","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238"]},{"id":"https://openalex.org/I4210088259","display_name":"National Institute of Dental and Craniofacial Research","ror":"https://ror.org/004a2wv92","country_code":"US","type":"facility","lineage":["https://openalex.org/I1299022934","https://openalex.org/I1299303238","https://openalex.org/I4210088259"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Tao Cai","raw_affiliation_strings":["Experimental Medicine Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, United States"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Experimental Medicine Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, United States","institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210088259"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5059643162"],"corresponding_institution_ids":["https://openalex.org/I1299303238","https://openalex.org/I4210088259"],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.00775638,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":93},"biblio":{"volume":"18","issue":"01","first_page":"033","last_page":"038"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.9667999744415283,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.9667999744415283,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.013899999670684338,"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"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.012500000186264515,"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/pafah1b1","display_name":"PAFAH1B1","score":0.9990000128746033},{"id":"https://openalex.org/keywords/de-novo-nonsense-mutation","display_name":"de novo nonsense mutation","score":0.7429999709129333},{"id":"https://openalex.org/keywords/loss-of-function-alleles","display_name":"loss-of-function alleles","score":0.8949999809265137},{"id":"https://openalex.org/keywords/malformations-of-cortical-development","display_name":"malformations of cortical development","score":0.878000020980835},{"id":"https://openalex.org/keywords/lissencephaly","display_name":"lissencephaly","score":0.9520000219345093},{"id":"https://openalex.org/keywords/pachygyria","display_name":"pachygyria","score":0.9150000214576721},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.9070000052452087},{"id":"https://openalex.org/keywords/speech-disorders","display_name":"speech disorders","score":0.8539999723434448},{"id":"https://openalex.org/keywords/cerebral-palsy","display_name":"cerebral palsy","score":0.9990000128746033},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8019999861717224},{"id":"https://openalex.org/keywords/chinese-population","display_name":"Chinese population","score":0.6309999823570251}],"concepts":[{"id":"https://openalex.org/C2781152150","wikidata":"https://www.wikidata.org/wiki/Q17163513","display_name":"Pachygyria","level":4,"score":0.9060218334197998},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.8176745772361755},{"id":"https://openalex.org/C2780698589","wikidata":"https://www.wikidata.org/wiki/Q1544416","display_name":"Lissencephaly","level":3,"score":0.6717830896377563},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.61109459400177},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5949840545654297},{"id":"https://openalex.org/C2776212519","wikidata":"https://www.wikidata.org/wiki/Q17146272","display_name":"Ventriculomegaly","level":4,"score":0.5569020509719849},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5051208138465881},{"id":"https://openalex.org/C2778186239","wikidata":"https://www.wikidata.org/wiki/Q41571","display_name":"Epilepsy","level":2,"score":0.4847795367240906},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4695369005203247},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4449552595615387},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.4367886185646057},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.4240038990974426},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.41173994541168213},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.2680191397666931},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1958015263080597},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1727755069732666},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.08304145932197571},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.0},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1055/s-0038-1677489","doi":"https://doi.org/10.1055/s-0038-1677489","is_oa":false,"landing_page_url":"https://doi.org/10.1055/s-0038-1677489","pdf_url":null,"source":{"id":"https://openalex.org/S2764819133","display_name":"Journal of Pediatric Neurology","issn_l":"1304-2580","issn":["1304-2580","1875-9041"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","jufo-1","norway-1","poland-20","russia-white-list-4"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Pediatric Neurology","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":29,"referenced_works":["https://openalex.org/W1738533803","https://openalex.org/W1885245943","https://openalex.org/W1908360402","https://openalex.org/W1983487070","https://openalex.org/W1989529963","https://openalex.org/W2003786147","https://openalex.org/W2011726225","https://openalex.org/W2017951377","https://openalex.org/W2017983301","https://openalex.org/W2050544865","https://openalex.org/W2065735956","https://openalex.org/W2070664595","https://openalex.org/W2095680775","https://openalex.org/W2098621846","https://openalex.org/W2098876907","https://openalex.org/W2120282622","https://openalex.org/W2129708696","https://openalex.org/W2130471430","https://openalex.org/W2164459568","https://openalex.org/W2256016639","https://openalex.org/W2426076391","https://openalex.org/W2463482797","https://openalex.org/W2608180135","https://openalex.org/W2751495121","https://openalex.org/W2886800768","https://openalex.org/W2887417422","https://openalex.org/W2888674680","https://openalex.org/W2889007313","https://openalex.org/W3015757943"],"related_works":["https://openalex.org/W2886800768","https://openalex.org/W4206956850","https://openalex.org/W4405586114","https://openalex.org/W4312524132","https://openalex.org/W7212003822","https://openalex.org/W2790939640","https://openalex.org/W2219978123","https://openalex.org/W3082746892","https://openalex.org/W4388373497","https://openalex.org/W4402147352"],"abstract_inverted_index":{"Abstract":[0],"To":[1],"identify":[2,49],"genetic":[3],"causes":[4],"in":[5,78,103,130,147],"affected":[6,20,46,80,132],"infants":[7,21],"with":[8,82,139],"abnormalities":[9],"of":[10,15,74,115],"brain":[11,117],"development,":[12],"including":[13],"malformations":[14],"cortical":[16],"development\u2013associated":[17],"neuropsychological":[18],"disorders,":[19],"were":[22,42],"recruited":[23],"based":[24],"on":[25],"their":[26],"clinical":[27],"examination":[28],"and":[29,39,86,105,121],"cranial":[30],"imaging":[31,114],"studies.":[32],"Trio":[33],"whole-exome":[34],"sequencing":[35,55],"(WES),":[36],"bioinformatic":[37],"analysis,":[38],"genotype\u2013phenotype":[40],"correlations":[41],"performed":[43],"for":[44,56],"20":[45],"subjects":[47],"to":[48,93,143],"candidate":[50],"mutations,":[51],"followed":[52],"by":[53,152],"Sanger":[54],"further":[57],"verification.":[58],"In":[59],"the":[60,75,79,106,116,131,136,148],"present":[61],"study,":[62],"we":[63],"identified":[64,151],"a":[65,95,144,153],"de":[66],"novo":[67],"heterozygous":[68],"mutation":[69,90,146],"(c.265C":[70],">":[71],"T,":[72],"p.R89*)":[73],"PAFAH1B1":[76],"gene":[77],"child":[81],"epilepsy,":[83],"speech":[84],"impairment,":[85],"cerebral":[87],"palsy.":[88],"The":[89],"was":[91,100],"predicted":[92],"be":[94],"null":[96],"loss-of-function":[97],"allele,":[98],"which":[99],"not":[101],"found":[102],"ExAC":[104],"Chinse":[107],"Han":[108],"Exome":[109],"Sequences":[110],"databases.":[111],"Magnetic":[112],"resonance":[113],"demonstrated":[118],"bilateral":[119],"parieto-occipital":[120],"temporal":[122],"lissencephaly":[123],"as":[124,126],"well":[125],"frontal":[127],"partial":[128],"pachygyria":[129],"child.":[133],"This":[134],"is":[135],"first":[137],"case":[138],"agyria\u2013pachygyria":[140],"complex":[141],"due":[142],"nonsense":[145],"Chinese":[149],"population":[150],"trio":[154],"WES":[155],"approach.":[156]},"counts_by_year":[{"year":2023,"cited_by_count":1}],"updated_date":"2026-09-29T14:09:16.559479","created_date":"2019-01-25T00:00:00"}
