Article
Biallelic mutations in ABCB1 display recurrent reversible encephalopathy.
Annals of clinical and translational neurology - 1 Aug 2020
Seo Jieun, Lee Cho-Rong, Paeng Jin Chul, Kwon Hyun W, Lee Duckgue, Kim Soon-Chan, Han Jaeseok, Ku Ja-Lok, Chae Jong Hee, Lim Byung Chan, Choi Murim
Abstract excerpt
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...
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