Case report: A novel CACNA1S mutation associated with hypokalemic periodic paralysis.

ABSTRACT:

Background

Hypokalemic periodic paralysis (HypoKPP) is a rare neuromuscular genetic disorder causing recurrent episodes of flaccid paralysis. Most cases are associated with CACNA1S mutation, causing defect of calcium channel and subsequent impairment of muscle functions. Due to defined management approaches early diagnosis is crucial for promptly treatment and prevention new attacks.

Materials and methods

We report a case of HypoKPP associated with previously unreported mutation in CACNA1S gene (p.R900M). Molecular modeling of Ca_V1.1 was applied to evaluate its pathogenicity.

Results

As a patient referred between attacks neurological status, laboratory and neurophysiological examination were unremarkable. Molecular modeling predicted that the

SUBMITTER: Nuzhnyi EP 

PROVIDER: S-EPMC10570449 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature