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Article

Novel CACNA1S mutation in hypokalaemic periodic paralysis.

BMJ case reports - 17 Jan 2022

Luís Telma, Linhares Maria Inês, Silva Sónia Regina, Rodrigues Filipa

Abstract excerpt

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 tests revealed severe hypokalaemia and hypokaluria. Symptoms resolution occurred after potassium replacement. The diagnosis of hypokalaemic periodic paralysis (HPP) was confirmed...

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Identifiers

PMID: 35039355
DOI: 10.1136/bcr-2021-245952
PMCID: PMC8768461

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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