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Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency.

Annals of neurology - 1 Oct 2024

Li Yun-Lu, Lin Jingjing, Huang Xuejing, Zeng Rui-Huang, Zhang Guangyu, Xu Jie-Ni, Lin Kai-Jun, Chen Xin-Shuo, He Ming-Feng, Qiao Jing-Da, Cheng Xuewen, Zhu Dengna, Xiong Zhi-Qi, Chen Wan-Jin

Abstract excerpt

OBJECTIVE: Most paroxysmal kinesigenic dyskinesia (PKD) cases are hereditary, yet approximately 60% of patients remain genetically undiagnosed. We undertook the present study to uncover the genetic basis for undiagnosed PKD patients. METHODS: Whole-exome sequencing was performed for 106 PRRT2-negative PKD probands. The functional impact of the genetic variants was investigated in HEK293T cells and Drosophila....

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Identifiers

PMID: 38979912
DOI: 10.1002/ana.27018

Genes

KCNJ10
PRRT2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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