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Revista Ecuatoriana de Neurología
versão On-line ISSN 2631-2581versão impressa ISSN 1019-8113
Resumo
REYES-TOLEDO, Raúl; MEDINAN-MUR, Ramón e CULMA-ROA, Laura. Hypokalemic periodic paralysis: case report and review of literature. Rev Ecuat Neurol [online]. 2020, vol.29, n.3, pp.97-101. ISSN 2631-2581. https://doi.org/10.46997/revecuatneurol29300097.
Hypokalemic periodic paralysis is a disease grouped among skeletal muscle channelopathies characterized by attacks of muscle weakness caused by dysfunction of Cav1.1 calcium or Nav1.4 sodium channels. We present the case of a patient with a diagnosis confirmed by a genetic study of episodic hypokalemic paralysis and a brief discussion regarding the importance of genetic analysis, its clinical and therapeutic implications.
Palavras-chave : hypokalemic periodic paralysis; muscle weakness; voltage-gated sodium channels; voltage-dependent calcium channels; muscle excitability; channelopathies..