Case report: A novel CACNA1S mutation associated with hypokalemic periodic paralysis.
| Autor: | Nuzhnyi EP; Research Center of Neurology, Moscow, Russia., Arestova AS; Research Center of Neurology, Moscow, Russia., Rossokhin AV; Research Center of Neurology, Moscow, Russia., Protopopova AO; Research Center of Neurology, Moscow, Russia., Abramycheva NY; Research Center of Neurology, Moscow, Russia., Suponeva NA; Research Center of Neurology, Moscow, Russia., Illarioshkin SN; Research Center of Neurology, Moscow, Russia. |
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| Jazyk: | angličtina |
| Zdroj: | Frontiers in neurology [Front Neurol] 2023 Sep 29; Vol. 14, pp. 1267426. Date of Electronic Publication: 2023 Sep 29 (Print Publication: 2023). |
| DOI: | 10.3389/fneur.2023.1267426 |
| Abstrakt: | 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 Results: 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. Conclusion: Novel CACNA1S mutation, associated with HypoKPP was identified. Monte-Carlo energy minimization of the Ca Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2023 Nuzhnyi, Arestova, Rossokhin, Protopopova, Abramycheva, Suponeva and Illarioshkin.) |
| Databáze: | MEDLINE |
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