Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.
Wen WeiXiu-Fen ZhengDan-Dan RuanYu-Mian GanYan-Ping ZhangYing ChenXin-Fu LinFa-Qiang TangJie-Wei LuoYun-Fei LiPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2021)
Family genotype-phenotype correlation analysis revealed that the phenotype and gene mutation were co-segregated, suggesting that it may be a pathogenic mutation.