Ontology highlight
ABSTRACT:
SUBMITTER: Seo J
PROVIDER: S-EPMC7448192 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Annals of clinical and translational neurology 20200705 8
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 ...[more]