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Article

Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia.

Journal of genetics and genomics = Yi chuan xue bao - 1 Aug 2024

Sun Wan-Bing, Fu Jing-Xin, Chen Yu-Lan, Li Hong-Fu, Wu Zhi-Ying, Chen Dian-Fu

Abstract excerpt

KCNA1 is the coding gene for Kv1.1 voltage-gated potassium-channel α subunit. Three variants of KCNA1 have been reported to manifest as paroxysmal kinesigenic dyskinesia (PKD), but the correlation between them remains unclear due to the phenotypic complexity of KCNA1 variants as well as the rarity of PKD cases. Using the whole exome sequencing followed by Sanger sequencing, we screen for potential pathogenic...

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Identifiers

PMID: 38570113
DOI: 10.1016/j.jgg.2024.03.013

Genes

KCNA1

Variants

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