Articles with "novel cacna1s" as a keyword



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Novel CACNA1S mutation in hypokalaemic periodic paralysis

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Published in 2022 at "BMJ Case Reports"

DOI: 10.1136/bcr-2021-245952

Abstract: A 15-year-old girl was admitted to emergency department with an acute flaccid tetraparesis with no other symptoms. A history of recurrent similar episodes with spontaneous recovery was reported and no family history was known. Laboratory… read more here.

Keywords: novel cacna1s; cacna1s mutation; hypokalaemic periodic; paralysis ... See more keywords