Heterozygous Loss-of-Function Variants of KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia.

Wan-Bing Sun; Jiao-Jiao Xu; Yulan Chen; Zhong-Chen Feng; Hongxia Li; Dian-Fu Chen; Zhi-Ying Wu

doi:10.1002/mds.70247

March 2, 2026

Heterozygous Loss-of-Function Variants of KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia.

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Key Points

To investigate the connection between KCNJ10 variants and paroxysmal kinesigenic dyskinesia (PKD).
Analyzed individuals with paroxysmal kinesigenic dyskinesia
Identified heterozygous loss-of-function variants in KCNJ10
Examined distribution bias of KCNJ10 variants in affected individuals
Confirmed that KCNJ10 variants lead to loss-of-function associated with PKD
Noted a male predominance among affected individuals
Provided insights into the underlying mechanisms of this type of PKD

Implication

Study confirms KCNJ10 variants cause paroxysmal kinesigenic dyskinesia, suggesting new understanding of this disorder.

Abstract

The study confirmed the correlation between PKD and the loss-of-function of Kir4.1 resulted from heterozygous KCNJ10 variants. The distribution bias of PKD-related KCNJ10 variants as well as the male predominance in affected individuals shed light on the mechanism investigation of this subtype of PKD.

Discussion

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Cite This Study

Sun et al. (2026) studied this question.

synapsesocial.com/papers/69a91de0d6127c7a504c122f https://doi.org/10.1002/mds.70247

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Heterozygous Loss-of-Function Variants of KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia.

Key Points

Implication

Abstract

Discussion

Cite This Study

Heterozygous Loss-of-Function Variants of KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia.

Key Points

Implication

Abstract

Discussion

Cite This Study

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