Biallelic mutations in ABCB1 display recurrent reversible encephalopathy
DC Field | Value | Language |
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dc.contributor.author | Seo, Jieun | - |
dc.contributor.author | Lee, Cho-Rong | - |
dc.contributor.author | Paeng, Jin Chul | - |
dc.contributor.author | Kwon, Hyun W. | - |
dc.contributor.author | Lee, Duckgue | - |
dc.contributor.author | Kim, Soon-Chan | - |
dc.contributor.author | Han, Jaeseok | - |
dc.contributor.author | Ku, Ja-Lok | - |
dc.contributor.author | Chae, Jong Hee | - |
dc.contributor.author | Lim, Byung Chan | - |
dc.contributor.author | Choi, Murim | - |
dc.date.accessioned | 2021-08-11T08:34:08Z | - |
dc.date.available | 2021-08-11T08:34:08Z | - |
dc.date.issued | 2020-08 | - |
dc.identifier.issn | 2328-9503 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/sch/handle/2021.sw.sch/2619 | - |
dc.description.abstract | The clinical phenotype linked with mutations in ABCB1, encoding P-glycoprotein, has never been reported. Here, we describe twin sisters with biallelic mutations in ABCB1 who showed recurrent reversible encephalopathy accompanied by acute febrile or afebrile illness. Whole-exome sequencing was performed on one of the twin and her healthy parents, and revealed compound heterozygous loss-of-function variants in ABCB1. The patient brains displayed substantial loss of xenobiotic clearance ability, as demonstrated by [C-11]verapamil positron emission tomography (PET) study, linking this phenotype with ABCB1 function. The endogenous cytokine clearance from the brain was also decreased in LPS-treated ABCB1 knockout mice compared to controls. The results provide insights into the physiological requirement of ABCB1 in maintaining homeostasis of various compounds for normal brain function. | - |
dc.format.extent | 7 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | John Wiley and Sons Ltd | - |
dc.title | Biallelic mutations in ABCB1 display recurrent reversible encephalopathy | - |
dc.type | Article | - |
dc.publisher.location | 미국 | - |
dc.identifier.doi | 10.1002/acn3.51125 | - |
dc.identifier.scopusid | 2-s2.0-85087464994 | - |
dc.identifier.wosid | 000545263600001 | - |
dc.identifier.bibliographicCitation | Annals of Clinical and Translational Neurology, v.7, no.8, pp 1443 - 1449 | - |
dc.citation.title | Annals of Clinical and Translational Neurology | - |
dc.citation.volume | 7 | - |
dc.citation.number | 8 | - |
dc.citation.startPage | 1443 | - |
dc.citation.endPage | 1449 | - |
dc.type.docType | Article | - |
dc.description.isOpenAccess | Y | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Neurosciences & Neurology | - |
dc.relation.journalWebOfScienceCategory | Clinical Neurology | - |
dc.relation.journalWebOfScienceCategory | Neurosciences | - |
dc.subject.keywordPlus | P-GLYCOPROTEIN | - |
dc.subject.keywordPlus | MULTIDRUG-RESISTANCE | - |
dc.subject.keywordPlus | EPILEPSY | - |
dc.subject.keywordPlus | POLYMORPHISM | - |
dc.subject.keywordPlus | PHARMACORESISTANCE | - |
dc.subject.keywordPlus | ASSOCIATION | - |
dc.subject.keywordPlus | EXPRESSION | - |
dc.subject.keywordAuthor | ABCB1 | - |
dc.subject.keywordAuthor | Encepahalophathy | - |
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