Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency - 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; et al. (Annals of neurology, 2024)
Keywords: Adolescent; Adult; Animals; Cell migration; Child; Complementation; Drosophila; Drosophila - genetics; Dyskinesia; Dystonia; Dystonia - genetics; Excitability; Exome Sequencing; Female; Fruit flies; Gene sequencing; Genetic diversity; Genetic variance; Haploinsufficiency; Haploinsufficiency - genetics; HEK293 Cells; Heterozygote; Homozygotes; Humans; Insects; Male; Mutation - genetics; Neuronal-glial interactions; Paroxysmal kinesigenic dyskinesia; Pathogenesis; Patients; Pedigree; Phenotypes; Potassium channels (inwardly-rectifying); Potassium Channels, Inwardly Rectifying - genetics; Potassium currents; Whole genome sequencing; Young Adult