Biallelic mutations in ABCB1 display recurrent reversible encephalopathy
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 w...
Main Authors: | Jieun Seo, Cho‐Rong Lee, Jin Chul Paeng, Hyun W. Kwon, Duckgue Lee, Soon‐Chan Kim, Jaeseok Han, Ja‐Lok Ku, Jong Hee Chae, Byung Chan Lim, Murim Choi |
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Format: | Article |
Language: | English |
Published: |
Wiley
2020-08-01
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Series: | Annals of Clinical and Translational Neurology |
Online Access: | https://doi.org/10.1002/acn3.51125 |
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