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

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

BackgroundHypokalemic 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 app...

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Bibliographic Details
Main Authors: Evgenii P. Nuzhnyi, Alina S. Arestova, Alexey V. Rossokhin, Anna O. Protopopova, Nataliya Yu Abramycheva, Natalia A. Suponeva, Sergey N. Illarioshkin
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Neurology
Subjects:
hypokalemic periodic paralysis
HypoKPP
CACNA1S
mutation
molecular modeling
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1267426/full

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https://www.frontiersin.org/articles/10.3389/fneur.2023.1267426/full

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