Biallelic mutations in ABCB1 display recurrent reversible encephalopathy

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 perfor...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7448192/
https://www.ncbi.nlm.nih.gov/pubmed/32627353
http://dx.doi.org/10.1002/acn3.51125

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