AUTHOR=Nuzhnyi Evgenii P. , Arestova Alina S. , Rossokhin Alexey V. , Protopopova Anna O. , Abramycheva Nataliya Yu , Suponeva Natalia A. , Illarioshkin Sergey N. 

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

JOURNAL=Frontiers in Neurology

VOLUME=14

YEAR=2023

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2023.1267426

DOI=10.3389/fneur.2023.1267426

ISSN=1664-2295

ABSTRACT=<sec id="sec1"><title>Background</title><p>Hypokalemic periodic paralysis (HypoKPP) is a rare neuromuscular genetic disorder causing recurrent episodes of flaccid paralysis. Most cases are associated with <italic>CACNA1S</italic> 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.</p></sec><sec id="sec2"><title>Materials and methods</title><p>We report a case of HypoKPP associated with previously unreported mutation in <italic>CACNA1S</italic> gene (p.R900M). Molecular modeling of Ca<sub>V</sub>1.1 was applied to evaluate its pathogenicity.</p></sec><sec id="sec3"><title>Results</title><p>As a patient referred between attacks neurological status, laboratory and neurophysiological examination were unremarkable. Molecular modeling predicted that the p.R900M mutation affects the process of calcium channels activation.</p></sec><sec id="sec4"><title>Conclusion</title><p>Novel <italic>CACNA1S</italic> mutation, associated with HypoKPP was identified. Monte-Carlo energy minimization of the Ca<sub>V</sub>1.1 model supported the association of this mutation with this disease.</p></sec>