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Article

Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.

Orphanet journal of rare diseases - 12 Apr 2024

Zhao Xuechao, Ning Haofeng, Liu Lina, Zhu Chaofeng, Zhang Yinghui, Sun Guifang, Ren Huanan, Kong Xiangdong

Abstract excerpt

BACKGROUND: Primary periodic paralysis (PPP) is an inherited disorders of ion channel dysfunction characterized by recurrent episodes of flaccid muscle weakness, which can classified as hypokalemic (HypoPP), normokalemic (NormoPP), or hyperkalemic (HyperPP) according to the potassium level during the paralytic attacks. However, PPP is charactered by remarkable clinical and genetic heterogeneity, and the diagnosis...

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Identifiers

PMID: 38609989
DOI: 10.1186/s13023-024-03170-5
PMCID: PMC11015673

Genes

SCN4A
CACNA1S

Provenance

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