Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review
Joint Authors
Quiroga-Carrillo, Manuela
Correa-Arrieta, Cristian
Ortiz-Corredor, Fernando
Suarez-Obando, Fernando
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-10-16
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia.
It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of inheritance.
We report the case of a 39-year-old patient with a picture with onset at six years of age, consisting of episodes of weakness caused by physical activity and intercurrent infectious processes, in whom a point mutation was found in the SCNA4 gene, not previously reported in the literature.
American Psychological Association (APA)
Quiroga-Carrillo, Manuela& Correa-Arrieta, Cristian& Ortiz-Corredor, Fernando& Suarez-Obando, Fernando. 2020. Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review. Case Reports in Genetics،Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1147282
Modern Language Association (MLA)
Quiroga-Carrillo, Manuela…[et al.]. Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review. Case Reports in Genetics No. 2020 (2020), pp.1-4.
https://search.emarefa.net/detail/BIM-1147282
American Medical Association (AMA)
Quiroga-Carrillo, Manuela& Correa-Arrieta, Cristian& Ortiz-Corredor, Fernando& Suarez-Obando, Fernando. Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review. Case Reports in Genetics. 2020. Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1147282
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1147282