Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients
Orphanet Journal of Rare Diseases(2024)
摘要
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 of suspected patients is based on the characteristic clinical presentation then confirmed by genetic testing. At present, there are only limited cohort studies on PPP in the Chinese population. We included 37 patients with a clinical diagnosis of PPP. Eleven (29.7
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关键词
Primary periodic paralysis,Hypokalemic periodic paralysis,CACNA1S and SCN4A genes,Panel and WES,Minigene
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