{"id":"https://openalex.org/W2486577052","doi":"https://doi.org/10.1212/wnl.86.16_supplement.p5.023","title":"Clinical and Genetic Assessment in Korean Patients with Congenital Insensitivity to Pain with Anhidrosis (P5.023)","display_name":"Clinical and Genetic Assessment in Korean Patients with Congenital Insensitivity to Pain with Anhidrosis (P5.023)","publication_year":2016,"publication_date":"2016-04-05","ids":{"openalex":"https://openalex.org/W2486577052","doi":"https://doi.org/10.1212/wnl.86.16_supplement.p5.023","mag":"2486577052"},"language":"en","primary_location":{"id":"doi:10.1212/wnl.86.16_supplement.p5.023","doi":"https://doi.org/10.1212/wnl.86.16_supplement.p5.023","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.86.16_supplement.p5.023","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5025024863","display_name":"Tai\u2010Seung Nam","orcid":"https://orcid.org/0000-0003-2771-8728","observed_orcids":["https://orcid.org/0000-0003-2771-8728"]},"institutions":[{"id":"https://openalex.org/I4210148121","display_name":"Chonnam National University Hwasun Hospital","ror":"https://ror.org/054gh2b75","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I111277659","https://openalex.org/I4210092150","https://openalex.org/I4210148121"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Tai-Seung Nam","raw_affiliation_strings":["Neurology Chonnam National University Hwasun Hospital Hwasun-gun  Korea, Republic of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurology Chonnam National University Hwasun Hospital Hwasun-gun  Korea, Republic of","institution_ids":["https://openalex.org/I4210148121"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089813579","display_name":"Seung\u2010Han Lee","orcid":"https://orcid.org/0000-0002-4410-646X","observed_orcids":["https://orcid.org/0000-0002-4410-646X"]},"institutions":[{"id":"https://openalex.org/I4210092150","display_name":"Chonnam National University Hospital","ror":"https://ror.org/00f200z37","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I111277659","https://openalex.org/I4210092150"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Seung-Han Lee","raw_affiliation_strings":["Chonnam National University Hospital Gwangju  Korea, Republic of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Chonnam National University Hospital Gwangju  Korea, Republic of","institution_ids":["https://openalex.org/I4210092150"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100690664","display_name":"Sang-Jun Park","orcid":"https://orcid.org/0009-0006-8229-0882","observed_orcids":["https://orcid.org/0009-0006-8229-0882"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sang-Jun Park","raw_affiliation_strings":["Neurology Cheomdan Medical Center Gwangju  Korea, Republic of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurology Cheomdan Medical Center Gwangju  Korea, Republic of","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072043213","display_name":"Jae\u2010Hwan Choi","orcid":"https://orcid.org/0000-0002-4120-9228","observed_orcids":["https://orcid.org/0000-0002-4120-9228"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Jae-Hwan Choi","raw_affiliation_strings":["Busan  Korea, Republic of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Busan  Korea, Republic of","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013153642","display_name":"Myeong\u2010Kyu Kim","orcid":"https://orcid.org/0000-0001-8673-7561","observed_orcids":["https://orcid.org/0000-0001-8673-7561"]},"institutions":[{"id":"https://openalex.org/I4210092150","display_name":"Chonnam National University Hospital","ror":"https://ror.org/00f200z37","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I111277659","https://openalex.org/I4210092150"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Myeong-Kyu Kim","raw_affiliation_strings":["Neurology Chonnam National University Hospital Gwangju  Korea, Republic of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurology Chonnam National University Hospital Gwangju  Korea, Republic of","institution_ids":["https://openalex.org/I4210092150"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070752672","display_name":"Sung Taek Jung","orcid":"https://orcid.org/0000-0003-3936-9799","observed_orcids":["https://orcid.org/0000-0003-3936-9799"]},"institutions":[{"id":"https://openalex.org/I4210092150","display_name":"Chonnam National University Hospital","ror":"https://ror.org/00f200z37","country_code":"KR","type":"healthcare","lineage":["https://openalex.org/I111277659","https://openalex.org/I4210092150"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Sung-Taek Jung","raw_affiliation_strings":["Orthopedics Chonnam National University Hospital Gwangju  Korea, Republic of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Orthopedics Chonnam National University Hospital Gwangju  Korea, Republic of","institution_ids":["https://openalex.org/I4210092150"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5090003158","display_name":"Seok\u2010Yong Choi","orcid":"https://orcid.org/0000-0001-7193-292X","observed_orcids":["https://orcid.org/0000-0001-7193-292X"]},"institutions":[{"id":"https://openalex.org/I111277659","display_name":"Chonnam National University","ror":"https://ror.org/05kzjxq56","country_code":"KR","type":"education","lineage":["https://openalex.org/I111277659"]}],"countries":["KR"],"is_corresponding":false,"raw_author_name":"Seok-Yong Choi","raw_affiliation_strings":["Biomedical Sciences Chonnam National University Medical School Gwangju  Korea, Republic of"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biomedical Sciences Chonnam National University Medical School Gwangju  Korea, Republic of","institution_ids":["https://openalex.org/I111277659"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"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":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"86","issue":"16_supplement","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.9940999746322632,"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":0.9940999746322632,"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/T10196","display_name":"Pain Mechanisms and Treatments","score":0.0015999999595806003,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology (medical)"},"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/T11204","display_name":"Ion Channels and Receptors","score":0.0010000000474974513,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/congenital-insensitivity-to-pain-with-anhidrosis","display_name":"congenital insensitivity to pain with anhidrosis","score":0.9990000128746033},{"id":"https://openalex.org/keywords/cipa","display_name":"CIPA","score":0.7950000166893005},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.972000002861023},{"id":"https://openalex.org/keywords/korean-patients","display_name":"Korean patients","score":0.6690000295639038},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.6449999809265137},{"id":"https://openalex.org/keywords/anhidrosis","display_name":"anhidrosis","score":0.6859999895095825},{"id":"https://openalex.org/keywords/insensitivity-to-pain","display_name":"pain insensitivity","score":0.5149999856948853},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.7350000143051147},{"id":"https://openalex.org/keywords/fracture-risk","display_name":"fracture risk","score":0.5950000286102295},{"id":"https://openalex.org/keywords/heat-intolerance","display_name":"heat intolerance","score":0.7799999713897705}],"concepts":[{"id":"https://openalex.org/C2779203496","wikidata":"https://www.wikidata.org/wiki/Q545408","display_name":"Anhidrosis","level":2,"score":0.8878073692321777},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.6913139820098877},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.37972044944763184},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.3009185194969177}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1212/wnl.86.16_supplement.p5.023","doi":"https://doi.org/10.1212/wnl.86.16_supplement.p5.023","is_oa":false,"landing_page_url":"https://doi.org/10.1212/wnl.86.16_supplement.p5.023","pdf_url":null,"source":{"id":"https://openalex.org/S79704628","display_name":"Neurology","issn_l":"0028-3878","issn":["0028-3878","1526-632X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315671","host_organization_name":"Lippincott Williams & Wilkins","host_organization_lineage":["https://openalex.org/P4310315671","https://openalex.org/P4310318547"],"host_organization_lineage_names":["Lippincott Williams & Wilkins","Wolters Kluwer"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Neurology","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9940000176429749,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2035818505","https://openalex.org/W2325029957","https://openalex.org/W4240689838","https://openalex.org/W4394012792","https://openalex.org/W3193635443","https://openalex.org/W2804985331","https://openalex.org/W2587576711","https://openalex.org/W2587334848","https://openalex.org/W2889924713","https://openalex.org/W2597811061"],"abstract_inverted_index":{"Objective:":[0],"To":[1],"identify":[2],"the":[3,91,145,186,215],"causative":[4,216],"mutations":[5,161,180,196,201],"and":[6,38,70,104,119,128,147,153,168,170,175,218],"clinical":[7,92,209],"characteristics":[8],"in":[9,47,144,151,181,197,221],"patients":[10,46,103,184,199],"with":[11,16],"congenital":[12],"insensitivity":[13],"to":[14,23,126,130],"pain":[15,36],"anhidrosis":[17],"(CIPA).":[18],"Background:":[19],"CIPA":[20,53,183,198],"is":[21,32],"known":[22,172],"be":[24],"an":[25],"extremely":[26],"rare":[27],"recessively-inherited":[28],"neurological":[29],"disease,":[30],"which":[31],"characterized":[33],"by":[34,200],"decreased":[35],"sensation,":[37],"absence":[39],"of":[40,52,110,115],"sweating":[41,143],"response.":[42],"Methods:":[43],"Eight":[44],"Korean":[45,80],"5":[48],"unrelated":[49,125],"family":[50,106,188],"suggestive":[51],"were":[54,87,189],"enrolled":[55],"for":[56,90,97,102,213],"this":[57],"study.":[58],"Electrophysiological":[59],"studies":[60,212],"including":[61],"nerve":[62],"conduction":[63],"study":[64],"(NCS),":[65],"somatosensory":[66],"evoked":[67],"potential":[68],"(SEP),":[69],"quantitative":[71],"sudomotor":[72],"axon":[73],"reflex":[74],"test":[75,86],"(QSART)":[76],"as":[77,79,205,207],"well":[78,206],"Wechsler":[81],"Adult":[82],"Intelligence":[83],"Scale":[84],"(K-WAIS)":[85],"carried":[88],"out":[89],"evaluation.":[93],"Direct":[94],"sequencing":[95,157],"analysis":[96],"NTRK1":[98,155,179,203],"gene":[99,156,204],"was":[100],"performed":[101],"their":[105,208,219],"members.":[107],"Results:":[108],"All":[109],"them":[111],"revealed":[112,158],"several":[113],"episodes":[114],"repeated":[116],"bony":[117],"fracture,":[118],"heat":[120],"intolerance":[121],"or":[122,140],"high":[123],"fever":[124],"infection,":[127],"mild":[129],"severe":[131],"mental":[132],"retardation":[133],"on":[134],"K-WAIS":[135],"test.":[136],"QSART":[137],"showed":[138],"absent":[139],"significantly":[141],"reduced":[142],"foot":[146],"forearm,":[148],"but":[149,177],"unremarkable":[150],"NCS":[152],"SEP.":[154],"4":[159,194],"novel":[160,195],"(c.704C>G":[162],"{p.Ser235Stop},":[163],"c.1786G>A":[164],"{p.Asp596Asn},":[165],"c.2350_2363del":[166],"{p.Leu784fsx79},":[167],"IVS14+3A>T),":[169],"2":[171,182],"(c.2020G>T":[173],"{p.Asp674Tyr},":[174],"IVS-33T>A),":[176],"no":[178],"within":[185,202],"same":[187],"found.":[190],"Conclusions:":[191],"We":[192],"reported":[193],"characteristics.":[210],"Further":[211],"verifying":[214],"genes":[217],"pathomechanism":[220],"CIPA.":[222]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-08-23T00:00:00"}
