Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency.

Yun-Lu LiJingjing LinXuejing HuangRui-Huang ZengGuangyu ZhangJie-Ni XuKai-Jun LinXin-Shuo ChenMing-Feng HeJing-Da QiaoXuewen ChengDengna ZhuZhi-Qi XiongWan-Jin Chen

Published in: Annals of neurology (2024)

Our study established haploinsufficiency resulting from heterozygous variants in KCNJ10 can be understood as a previously unrecognized genetic cause for PKD and provided evidence of glial involvement in the pathophysiology of PKD. ANN NEUROL 2024.

Keyphrases

copy number
early onset
polycystic kidney disease
genome wide
neuropathic pain
dna methylation
gene expression
spinal cord injury